MCID: KRB001
MIFTS: 69

Krabbe Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Krabbe Disease

MalaCards integrated aliases for Krabbe Disease:

Name: Krabbe Disease 57 38 12 76 53 25 54 59 75 37 13 55 15
Galactosylceramide Beta-Galactosidase Deficiency 57 12 53 75 29 6 40
Globoid Cell Leukodystrophy 57 12 53 54 59 73
Galc Deficiency 57 53 25 59 75
Globoid Cell Leukoencephalopathy 57 12 53 75
Gld 57 53 25 75
Galactocerebrosidase Deficiency 57 53 59
Leukodystrophy, Globoid Cell 76 75 44
Gcl 53 25 75
Diffuse Globoid Body Sclerosis 12 25
Krabbe Leukodystrophy 76 53
Galactosylceramidase Deficiency Disease 25
Globoid Cell Leukodystrophy; Gld; Gcl 57
Infantile Globoid Cell Leukodystrophy 73
Beta Galactocerebrosidase Deficiency 12
Galactosylcerebrosidase Deficiency 25
Galactosylsphingosine Lipidosis 25
Galactosylceramidase Deficiency 59
Galactosylceramide Lipidosis 25
Krabbe's Leukodystrophy 12
Psychosine Lipidosis 25
Krabbe's Disease 12

Characteristics:

Orphanet epidemiological data:

59
krabbe disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/100000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Miscellaneous:
episodic fever
four clinical forms of krabbe disease
infantile form has onset within first 6 months of life
infantile form accounts for 90% of cases
infantile form usually leads to death by age 2 years
late infantile form has onset between 19 months and 4 years
juvenile form has onset between 4 and 19 years
adult form onset has after 20 years
incidence of 1 in 100,000

Inheritance:
autosomal recessive


HPO:

32
krabbe disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Krabbe Disease

NIH Rare Diseases : 53 Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability; failure to thrive; slowed development; unexplained fevers; and progressive muscle weakness, hearing loss and vision loss. People affected by the late-onset forms may not develop symptoms until later in childhood, early adolescence or even into adulthood. Signs and symptoms of these forms are extremely variable but may include muscle weakness and rigidity; walking difficulties; vision loss; intellectual regression; and/or seizures. Krabbe disease is caused by changes (mutations) in the GALC gene and is inherited in an autosomal recessive manner. Treatment is generally based on the signs and symptoms present in each person; however, preliminary studies suggest that it may be beneficial to use hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) as a treatment for patients in the early stages of infantile Krabbe disease and older people with mild symptoms.

MalaCards based summary : Krabbe Disease, also known as galactosylceramide beta-galactosidase deficiency, is related to infantile krabbe disease and sphingolipidosis, and has symptoms including seizures, vomiting and hyperirritability. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related phenotypes are seizures and ataxia

OMIM : 57 Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010). (245200)

UniProtKB/Swiss-Prot : 75 Leukodystrophy, globoid cell: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.

NINDS : 54 Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells.  Krabbe disease, also called globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  Symptoms include: severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), spasticity (involuntary and awkward movement), unexplained fever, blindness, difficulty with swallowing, deafness.  

Genetics Home Reference : 25 Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.

Wikipedia : 76 Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a... more...

Related Diseases for Krabbe Disease

Diseases in the Krabbe Disease family:

Infantile Krabbe Disease Late-Infantile/juvenile Krabbe Disease
Adult Krabbe Disease

Diseases related to Krabbe Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 55, show less)
# Related Disease Score Top Affiliating Genes
1 infantile krabbe disease 34.2 GALC PSAP
2 sphingolipidosis 31.2 ARSA GALC PSAP
3 leukodystrophy 30.4 ARSA GALC PSAP
4 metachromatic leukodystrophy 29.9 ARSA GALC PSAP
5 gaucher's disease 29.3 ARSA CHIT1 PSAP
6 lysosomal storage disease 29.0 ARSA GAA GALC
7 krabbe disease, atypical, due to saposin a deficiency 12.4
8 adult krabbe disease 12.1
9 late-infantile/juvenile krabbe disease 12.0
10 lymphedema, hereditary, iii 11.0
11 congenital generalized lipodystrophy 10.9
12 sturge-weber syndrome 10.9
13 cerebral atrophy 10.9
14 spasticity 10.9
15 gaucher disease, type i 10.5 CHIT1 PSAP
16 metachromatic leukodystrophy, adult form 10.2 ARSA PSAP
17 metachromatic leukodystrophy, late infantile form 10.2 ARSA PSAP
18 metachromatic leukodystrophy, juvenile form 10.2 ARSA PSAP
19 inclusion-cell disease 10.2 ARSA PSAP
20 peripheral nervous system disease 10.1
21 endotheliitis 10.1
22 hematopoietic stem cell transplantation 10.1
23 neuronitis 10.1
24 neuropathy 10.1
25 niemann-pick disease 10.0 CHIT1 PSAP
26 spinocerebellar degeneration 10.0
27 depression 9.9
28 systemic lupus erythematosus 9.9
29 lupus erythematosus 9.9
30 multiple sclerosis 9.9
31 aging 9.9
32 cerebritis 9.9
33 tay-sachs disease 9.9 ARSA PSAP
34 niemann-pick disease, type a 9.9 CHIT1 MBP
35 mucopolysaccharidosis, type ii 9.8 ARSA GAA
36 lipid storage disease 9.8 ARSA GALC PSAP
37 mucopolysaccharidosis type vi 9.8 ARSA GAA
38 occlusion precerebral artery 9.8 CASP3 MBP
39 intussusception 9.8
40 ceroid lipofuscinosis, neuronal, 1 9.8
41 adrenoleukodystrophy 9.8
42 rett syndrome 9.8
43 aceruloplasminemia 9.8
44 ataxia-oculomotor apraxia 3 9.8
45 motor neuron disease 9.8
46 neuronal ceroid lipofuscinosis 9.8
47 conjunctivitis 9.8
48 nervous system disease 9.8
49 glioma 9.8
50 myoclonus 9.8
51 traumatic brain injury 9.7 CASP3 MBP
52 brain injury 9.6 CASP3 MBP
53 neuronal ceroid-lipofuscinoses 9.6 MBP PSAP
54 mannosidosis, beta a, lysosomal 9.6 GAA MBP
55 inherited metabolic disorder 9.2 ARSA GAA

Graphical network of the top 20 diseases related to Krabbe Disease:



Diseases related to Krabbe Disease

Symptoms & Phenotypes for Krabbe Disease

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
developmental regression
motor deterioration
neurodegeneration
more
Growth Other:
failure to thrive

Head And Neck Ears:
deafness
abnormal brainstem auditory evoked potentials (baep)

Laboratory Abnormalities:
elevated cerebrospinal fluid (csf) protein
galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

Head And Neck Eyes:
nystagmus
optic atrophy
blindness
abnormal flash visual evoked potentials (vep)

Abdomen Gastrointestinal:
vomiting

Neurologic Peripheral Nervous System:
sensorimotor peripheral neuropathy
diffuse demyelinating neuropathy
decreased nerve conduction velocities


Clinical features from OMIM:

245200

Human phenotypes related to Krabbe Disease:

59 32 (showing 47, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 Frequent (79-30%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
5 hearing impairment 59 32 Very frequent (99-80%) HP:0000365
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
10 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
11 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
12 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
13 sensory neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000763
14 abnormality of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001172
15 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
16 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
17 cloverleaf skull 59 32 hallmark (90%) Very frequent (99-80%) HP:0002676
18 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
19 aplasia/hypoplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0010318
20 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
21 hydrocephalus 32 HP:0000238
22 nystagmus 32 HP:0000639
23 muscular hypotonia 32 HP:0001252
24 failure to thrive 32 HP:0001508
25 eeg abnormality 32 HP:0002353
26 developmental regression 32 HP:0002376
27 behavioral abnormality 59 Very frequent (99-80%)
28 optic atrophy 32 HP:0000648
29 blindness 32 HP:0000618
30 hypertonia 32 HP:0001276
31 vomiting 32 HP:0002013
32 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
33 peripheral neuropathy 59 Very frequent (99-80%)
34 decreased nerve conduction velocity 32 HP:0000762
35 motor deterioration 32 HP:0002333
36 neurodegeneration 32 HP:0002180
37 progressive spasticity 32 HP:0002191
38 sensorimotor neuropathy 32 HP:0007141
39 peripheral demyelination 32 HP:0011096
40 increased csf protein 32 HP:0002922
41 autoimmune thrombocytopenia 32 HP:0001973
42 episodic fever 32 HP:0001954
43 hyperactive deep tendon reflexes 32 HP:0006801
44 diffuse cerebral atrophy 32 HP:0002506
45 decerebrate rigidity 32 HP:0025013
46 abnormal flash visual evoked potentials 32 HP:0007928
47 cns demyelination 32 HP:0007305

UMLS symptoms related to Krabbe Disease:


seizures, vomiting, hyperirritability

GenomeRNAi Phenotypes related to Krabbe Disease according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 GAA GALC PLA2G2A PLA2G4A PSAP

MGI Mouse Phenotypes related to Krabbe Disease:

46 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.08 ARSA CASP3 GAA GALC MBP PLA2G4A
2 cellular MP:0005384 10 PSAP CASP3 GAA GALC MBP PLA2G4A
3 growth/size/body region MP:0005378 9.98 GAA GALC MBP PLA2G4A PLA2G6 PSAP
4 homeostasis/metabolism MP:0005376 9.92 ARSA CASP3 GAA GALC MBP PLA2G4A
5 hematopoietic system MP:0005397 9.91 ARSA CASP3 GALC MBP PLA2G4A PLA2G6
6 immune system MP:0005387 9.86 ARSA CASP3 CHIT1 GALC MBP PLA2G4A
7 hearing/vestibular/ear MP:0005377 9.71 ARSA CASP3 MBP PSAP
8 muscle MP:0005369 9.63 CASP3 GAA GALC PLA2G4A PLA2G6 PSAP
9 nervous system MP:0003631 9.5 ARSA CASP3 GALC MBP PLA2G4A PLA2G6
10 vision/eye MP:0005391 9.02 MBP PLA2G6 PSAP CASP3 GALC

Drugs & Therapeutics for Krabbe Disease

Drugs for Krabbe Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 49, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Alkylating Agents Phase 2, Phase 3,Not Applicable
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
8 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
9 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
10 Methylprednisolone acetate Phase 2, Phase 3
11 Methylprednisolone Hemisuccinate Phase 2, Phase 3
12 Prednisolone acetate Phase 2, Phase 3
13 Prednisolone hemisuccinate Phase 2, Phase 3
14 Prednisolone phosphate Phase 2, Phase 3
15
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
16
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
20
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
21
Mesna Approved, Investigational Phase 2 3375-50-6 598
22
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
23
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
24
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
29 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
30
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Antifungal Agents Phase 2,Not Applicable
33 Anti-Infective Agents Phase 2,Not Applicable
34 Antimetabolites Phase 2,Not Applicable
35 Antimetabolites, Antineoplastic Phase 2,Not Applicable
36 Calcineurin Inhibitors Phase 2,Not Applicable
37 Cyclosporins Phase 2,Not Applicable
38 Dermatologic Agents Phase 2,Not Applicable
39 Nucleic Acid Synthesis Inhibitors Phase 2
40 Anti-Bacterial Agents Phase 2,Not Applicable
41 Antibiotics, Antitubercular Phase 2,Not Applicable
42 Antitubercular Agents Phase 2,Not Applicable
43 N-monoacetylcystine Phase 2
44 Thioctic Acid Phase 2
45 Tocopherols Phase 2
46 Tocotrienols Phase 2
47 Vitamins Phase 2
48 Alpha-lipoic Acid Nutraceutical Phase 2
49 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(showing 22, show less)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
4 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
7 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
13 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
14 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
17 Krabbe Disease Global Patient Registry Recruiting NCT02993796
18 Biomarker for Krabbe Disease Recruiting NCT01425489
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Active, not recruiting NCT00787865
22 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105

Search NIH Clinical Center for Krabbe Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Krabbe Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: leukodystrophy, globoid cell

Genetic Tests for Krabbe Disease

Genetic tests related to Krabbe Disease:

# Genetic test Affiliating Genes
1 Galactosylceramide Beta-Galactosidase Deficiency 29 GALC

Anatomical Context for Krabbe Disease

MalaCards organs/tissues related to Krabbe Disease:

41
Brain, Bone, Eye, Bone Marrow, Skin, Testes, Spinal Cord

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(showing 251, show less)
# Title Authors Year
1
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. ( 29391017 )
2018
2
Adult-onset Krabbe disease in two generations of a Chinese family. ( 29951496 )
2018
3
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. ( 29479774 )
2018
4
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). ( 29316812 )
2018
5
Heterozygous carriers of galactocerebrosidase mutations that cause Krabbe disease have impaired microglial function and defective repair of myelin damage. ( 29623914 )
2018
6
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. ( 29615819 )
2018
7
Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages. ( 29350082 )
2018
8
Long-Term Functional Outcomes following Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease. ( 29933067 )
2018
9
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ( 28168127 )
2017
10
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. ( 28170189 )
2017
11
Stem cell transplantation in Krabbe disease: New truths discovered and opinions change. ( 28855407 )
2017
12
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study. ( 28855403 )
2017
13
WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease. ( 28552323 )
2017
14
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity inA vitro. ( 28109651 )
2017
15
Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease. ( 28598007 )
2017
16
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. ( 28592445 )
2017
17
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. ( 27126738 )
2016
18
Insights into the Pathogenesis and Treatment of Krabbe Disease. ( 27491217 )
2016
19
Thickening of the cauda equina roots: a common finding in Krabbe disease. ( 27137647 )
2016
20
Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging. ( 27423612 )
2016
21
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 27920424 )
2016
22
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves. ( 27040675 )
2016
23
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 28442746 )
2016
24
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. ( 26915362 )
2016
25
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
26
Clinical management of Krabbe disease. ( 27638597 )
2016
27
Challenge of phenotype estimation for optimal treatment of Krabbe disease. ( 27638587 )
2016
28
Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. ( 26840509 )
2016
29
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. ( 27559102 )
2016
30
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. ( 27638604 )
2016
31
Krabbe disease: One Hundred years from the bedside to the bench to the bedside. ( 27638583 )
2016
32
A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. ( 28000364 )
2016
33
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ( 27679535 )
2016
34
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. ( 27545315 )
2016
35
Chaperones as potential therapeutics for Krabbe disease. ( 27638605 )
2016
36
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. ( 27638595 )
2016
37
Newborn screening for Krabbe disease in New York State: the first eight years' experience. ( 26795590 )
2016
38
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. ( 27638581 )
2016
39
Should states adopt newborn screening for early infantile Krabbe disease? ( 26845105 )
2016
40
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. ( 27171547 )
2016
41
Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease. ( 27677296 )
2016
42
Gene therapy for CNS diseases - Krabbe disease. ( 27525222 )
2016
43
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. ( 27780934 )
2016
44
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. ( 27785412 )
2016
45
Brain angioarchitecture and intussusceptive microvascular growth in a murine model of Krabbe disease. ( 26310512 )
2015
46
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. ( 25236689 )
2015
47
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. ( 26108143 )
2015
48
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease. ( 25762404 )
2015
49
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. ( 26567009 )
2015
50
Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors. ( 26459425 )
2015
51
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. ( 26108647 )
2015
52
Azasugar inhibitors as pharmacological chaperones for Krabbe disease. ( 26029356 )
2015
53
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. ( 25844309 )
2015
54
Mechanism of neuromuscular dysfunction in Krabbe disease. ( 25632136 )
2015
55
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). ( 27442402 )
2015
56
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation. ( 26396125 )
2015
57
Midbrain morphology reflects extent of brain damage in Krabbe disease. ( 25859833 )
2015
58
Neuronal inclusions of I+-synuclein contribute to the pathogenesis of Krabbe disease. ( 24415155 )
2014
59
Phenotypic variability of krabbe disease across the lifespan. ( 24384330 )
2014
60
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. ( 24252386 )
2014
61
History, genetic, and recent advances on Krabbe disease. ( 25260228 )
2014
62
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype. ( 24262341 )
2014
63
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. ( 25193740 )
2014
64
The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3I^ and deregulation of molecular motors. ( 23761900 )
2013
65
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. ( 23620143 )
2013
66
Novel diffusion tensor imaging findings in Krabbe disease. ( 24149099 )
2013
67
Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. ( 22959700 )
2013
68
A high-throughput screening assay using Krabbe disease patient cells. ( 23138179 )
2013
69
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. ( 23419961 )
2013
70
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy. ( 23622382 )
2013
71
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. ( 23197103 )
2013
72
Role of endogenous psychosine accumulation in oligodendrocyte differentiation and survival: implication for Krabbe disease. ( 23438514 )
2013
73
Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? ( 24388568 )
2013
74
Structural snapshots illustrate the catalytic cycle of I^-galactocerebrosidase, the defective enzyme in Krabbe disease. ( 24297913 )
2013
75
Stem cell transplantation for adult-onset krabbe disease: report of a case. ( 23430802 )
2013
76
Characterization of adipose-derived stromal/stem cells from the Twitcher mouse model of Krabbe disease. ( 23590629 )
2013
77
Four novel GALC gene mutations in two Chinese patients with Krabbe disease. ( 23462331 )
2013
78
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. ( 23276707 )
2013
79
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. ( 22274816 )
2013
80
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. ( 23319190 )
2012
81
Krabbe disease: the importance of early diagnosis for prognosis. ( 23052461 )
2012
82
Detection of the neurotoxin psychosine in samples of peripheral blood: application in diagnostics and follow-up of Krabbe disease. ( 22742542 )
2012
83
Later onset phenotypes of Krabbe disease: results of the world-wide registry. ( 22520351 )
2012
84
Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease. ( 22850681 )
2012
85
Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique. ( 22381022 )
2012
86
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. ( 22115770 )
2012
87
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. ( 22704718 )
2012
88
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. ( 22150413 )
2012
89
Intracranial optic nerve enlargement in infantile Krabbe disease. ( 22585439 )
2012
90
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )
2012
91
Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. ( 22964446 )
2012
92
Child Neurology: Krabbe disease: a potentially treatable white matter disorder. ( 23128445 )
2012
93
Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease. ( 21259322 )
2011
94
Insights into Krabbe disease from structures of galactocerebrosidase. ( 21876145 )
2011
95
Effect of psychosine on inducible nitric-oxide synthase expression under different culture conditions: implications for Krabbe disease. ( 22195360 )
2011
96
Predominant corticospinal tract involvement in early-onset Krabbe disease. ( 21215920 )
2011
97
Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease. ( 22153408 )
2011
98
Normal neuroimaging in early-onset Krabbe disease. ( 21481747 )
2011
99
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease. ( 21373782 )
2011
100
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. ( 21479982 )
2011
101
Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective. ( 21285037 )
2011
102
Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. ( 22447750 )
2011
103
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. ( 21824559 )
2011
104
Genetic screening for Krabbe disease: learning from the past and looking to the future. ( 21344630 )
2011
105
DTI registration in atlas based fiber analysis of infantile Krabbe disease. ( 21256236 )
2011
106
Effect of intrastriatal mesenchymal stromal cell injection on progression of a murine model of Krabbe disease. ( 21840342 )
2011
107
Selective corticospinal tract involvement in late-onset Krabbe disease. ( 21768595 )
2011
108
Unilateral white matter involvement in Krabbe disease. ( 21220686 )
2011
109
Patient with unilateral white matter involvement does not have Krabbe disease. ( 21987556 )
2011
110
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). ( 20839990 )
2010
111
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease. ( 21049202 )
2010
112
Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease. ( 20441793 )
2010
113
Weighing the evidence for newborn screening for early-infantile Krabbe disease. ( 20601893 )
2010
114
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. ( 20886637 )
2010
115
Newborn screening for Krabbe disease: a model of cooperation. ( 19302936 )
2009
116
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. ( 19346954 )
2009
117
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. ( 20446225 )
2009
118
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. ( 19185028 )
2009
119
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. ( 19386732 )
2009
120
Intracranial calcification after cord blood neonatal transplantation for krabbe disease. ( 20135576 )
2009
121
Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. ( 19332366 )
2009
122
Newborn screening for Krabbe disease: the New York State model. ( 19302934 )
2009
123
Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York". ( 19436215 )
2009
124
Implementation of newborn screening for Krabbe disease: population study and cutoff determination. ( 19318021 )
2009
125
Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study. ( 19141067 )
2009
126
Krabbe disease: an overview. ( 20040316 )
2009
127
Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. ( 18246117 )
2008
128
Gene symbol: GALC. Disease: Krabbe disease. ( 18846620 )
2008
129
Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. ( 18438656 )
2008
130
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. ( 18265968 )
2008
131
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. ( 18248608 )
2008
132
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. ( 18077684 )
2007
133
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. ( 17824908 )
2007
134
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. ( 17291472 )
2007
135
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. ( 17579360 )
2007
136
Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. ( 16864819 )
2006
137
Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. ( 16876017 )
2006
138
Krabbe disease: unusual MRI findings. ( 16247616 )
2006
139
Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. ( 16864820 )
2006
140
Diagnosis of Krabbe disease by use of a natural substrate. ( 17072020 )
2006
141
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. ( 16923928 )
2006
142
Neurophysiologic studies in Krabbe disease. ( 16893123 )
2006
143
Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. ( 16864808 )
2006
144
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. ( 16607461 )
2006
145
Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death. ( 16645197 )
2006
146
Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. ( 16394159 )
2005
147
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. ( 16435193 )
2005
148
Serial electrophysiologic studies in rhesus monkeys with Krabbe disease. ( 15937878 )
2005
149
Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. ( 15987975 )
2005
150
Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease. ( 15685691 )
2005
151
Krabbe disease--a case report. ( 16498763 )
2005
152
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. ( 16417879 )
2005
153
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. ( 16042308 )
2005
154
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. ( 15773042 )
2005
155
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]. ( 15141649 )
2004
156
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. ( 14981030 )
2004
157
Familial infantile globoid cell leukodystrophy (Krabbes disease). ( 15123879 )
2004
158
Krabbe disease: neurophysiologic studies and MRI correlations. ( 15326231 )
2004
159
Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells. ( 15534764 )
2004
160
Brain-stem auditory and visual evoked potentials in children with Krabbe disease. ( 15203066 )
2004
161
Transgenic rescue of Krabbe disease in the twitcher mouse. ( 15164096 )
2004
162
Adult onset Krabbe disease may mimic motor neurone disease. ( 12948479 )
2003
163
Early peripheral nervous system manifestations of infantile Krabbe disease. ( 12699861 )
2003
164
Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. ( 12629240 )
2003
165
Infantile Krabbe disease. ( 14623741 )
2003
166
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. ( 11814461 )
2002
167
Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe disease. ( 11978730 )
2002
168
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). ( 11461188 )
2001
169
Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. ( 11230660 )
2001
170
Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease. ( 10787123 )
2000
171
Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing. ( 10913522 )
2000
172
Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. ( 10752900 )
2000
173
MR imaging and proton MR spectroscopy in adult Krabbe disease. ( 11003282 )
2000
174
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. ( 11151421 )
2000
175
Krabbe disease--clinical profile. ( 10992329 )
2000
176
Krabbe disease: genetic aspects and progress toward therapy. ( 10833326 )
2000
177
Murine, canine and non-human primate models of Krabbe disease. ( 11074371 )
2000
178
Molecular heterogeneity of Krabbe disease. ( 10234611 )
1999
179
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. ( 10448809 )
1999
180
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). ( 10090061 )
1998
181
MRI nerve root enhancement in Krabbe disease. ( 9744639 )
1998
182
[Krabbe disease (globoid cell leukodystrophy): a case report] ( 14685352 )
1998
183
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. ( 9272171 )
1997
184
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. ( 9408597 )
1997
185
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. ( 9266397 )
1997
186
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. ( 9192853 )
1997
187
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. ( 9338580 )
1997
188
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. ( 10464649 )
1997
189
Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves. ( 9595850 )
1997
190
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. ( 9371928 )
1997
191
Serial MRI and neurophysiological studies in late-infantile Krabbe disease. ( 8916164 )
1996
192
Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease. ( 8677024 )
1996
193
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. ( 8687180 )
1996
194
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). ( 8723112 )
1996
195
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. ( 8786069 )
1996
196
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. ( 7581365 )
1995
197
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. ( 7572154 )
1995
198
The twitcher mouse: a model for Krabbe disease and for experimental therapies. ( 8520724 )
1995
199
[Krabbe disease (globoid cell leukodystrophy)]. ( 8577041 )
1995
200
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. ( 8634707 )
1995
201
Molecular defects in Krabbe disease. ( 8595408 )
1995
202
Early infantile form of Krabbe disease with optic hypertrophy: serial MR examinations and autopsy correlation. ( 7985562 )
1994
203
Pathological and biochemical studies of fetal Krabbe disease. ( 7695000 )
1994
204
Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. ( 7985561 )
1994
205
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. ( 8297359 )
1994
206
Deceptively normal MR in early infantile Krabbe disease. ( 8141050 )
1994
207
Auditory evoked responses in Krabbe disease. ( 8292214 )
1993
208
Infantile Krabbe disease: complementary CT and MR findings. ( 8237697 )
1993
209
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. ( 8311994 )
1993
210
Krabbe Disease ( 20301416 )
1993
211
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. ( 8250040 )
1993
212
Serial MRI and CT findings in infantile Krabbe disease. ( 1476576 )
1992
213
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. ( 1521344 )
1992
214
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. ( 1817026 )
1991
215
Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. ( 1654028 )
1991
216
Use of a fluorogenic substrate, 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside, in the diagnosis of Krabbe disease. ( 1779655 )
1991
217
Palatal myoclonus in Krabbe disease. ( 1785660 )
1991
218
Krabbe disease in monozygotic triplets. ( 1778346 )
1991
219
MRI and CT findings in Krabbe disease. ( 1930420 )
1991
220
Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids. ( 2079710 )
1990
221
Krabbe disease locus mapped to chromosome 14 by genetic linkage. ( 1971996 )
1990
222
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi. ( 2606482 )
1989
223
A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase. ( 3369670 )
1988
224
Krabbe disease and protruding ears. ( 3425640 )
1987
225
Detection of Krabbe disease using tritiated galactosylceramides with medium-chain fatty acids. ( 3681116 )
1987
226
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. ( 2907603 )
1986
227
Krabbe disease: specific MRI and CT findings. ( 3941765 )
1986
228
Use of mixed dispersion of fluorescent galactosylceramide and sodium dodecylsulfate for assaying galactosylceramide-beta-galactosidase and diagnosing Krabbe disease. ( 4054076 )
1985
229
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. ( 3895053 )
1985
230
Krabbe disease: increased incidence in a highly inbred community. ( 4025402 )
1985
231
Computed tomography and magnetic resonance imaging in late-onset globoid cell leukodystrophy (Krabbe disease). ( 3880410 )
1985
232
Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide. ( 6488564 )
1984
233
Specific CT findings in Krabbe disease. ( 6331756 )
1984
234
Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease. ( 6850275 )
1983
235
Prenatal diagnosis of Krabbe disease: galactosylceramide metabolism in cultured amniotic fluid cells. ( 7131154 )
1982
236
The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease. ( 7151275 )
1982
237
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. ( 6806321 )
1982
238
Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease . ( 7094344 )
1982
239
Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. ( 6811701 )
1982
240
Use of leukocytes in diagnosis of Krabbe disease and detection of carriers. ( 7237832 )
1981
241
Prenatal diagnosis of Krabbe disease. ( 7307314 )
1981
242
The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). ( 7437911 )
1980
243
The interrelations between high- and low-molecular weight forms of normal and mutant (Krabbe-disease) galactocerebrosidase. ( 7458907 )
1980
244
Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. ( 7354254 )
1980
245
Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme. ( 507819 )
1979
246
Sphingolipid beta-D-galactosidases in globoid cell leukodystrophy (Krabbe disease). ( 103589 )
1978
247
The nature of mutation in Krabbe disease. ( 85413 )
1978
248
Possible misdiagnosis of Krabbe disease. ( 1245944 )
1976
249
Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids. ( 937104 )
1976
250
Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination. ( 4728185 )
1973
251
Remarks on the Sturge-Kalischer-Weber-Dimitri-Krabbe disease. ( 13301888 )
1955

Variations for Krabbe Disease

UniProtKB/Swiss-Prot genetic disease variations for Krabbe Disease:

75 (showing 44, show less)
# Symbol AA change Variation ID SNP ID
1 GALC p.Gly111Asp VAR_003380 rs746487628
2 GALC p.Gly111Ser VAR_003381 rs756690487
3 GALC p.Thr112Ala VAR_003382 rs147313927
4 GALC p.Met117Leu VAR_003383
5 GALC p.Asp187Val VAR_003384 rs997021099
6 GALC p.Gly194Ala VAR_003385 rs963756824
7 GALC p.Ile250Thr VAR_003387 rs886039569
8 GALC p.Ala263Thr VAR_003388
9 GALC p.Gly284Ser VAR_003389 rs377274761
10 GALC p.Gly286Asp VAR_003390 rs199847983
11 GALC p.Asn295Thr VAR_003391 rs746922378
12 GALC p.Ser303Phe VAR_003392 rs756352952
13 GALC p.Pro318Ala VAR_003393 rs1057516642Leukodystrophy,
14 GALC p.Arg396Trp VAR_003394 rs770485731
15 GALC p.Pro400Leu VAR_003395
16 GALC p.Phe514Ser VAR_003397 rs375867319
17 GALC p.Thr529Met VAR_003398 rs200960659
18 GALC p.Arg531Cys VAR_003399 rs749893889
19 GALC p.Asp544Asn VAR_003400 rs387906952
20 GALC p.Val566Gly VAR_003402
21 GALC p.Tyr567Ser VAR_003403 rs752537626
22 GALC p.Ala592Ser VAR_003404
23 GALC p.Ile599Ser VAR_003405 rs387906953
24 GALC p.Leu645Arg VAR_003407 rs780593419
25 GALC p.Gly59Arg VAR_013956
26 GALC p.Ser68Phe VAR_013957
27 GALC p.Arg79His VAR_013958 rs370117160
28 GALC p.Ile82Met VAR_013959
29 GALC p.Thr278Ile VAR_013961
30 GALC p.Tyr314Cys VAR_013963
31 GALC p.Tyr335Cys VAR_013964 rs757407613
32 GALC p.Trp426Gly VAR_013965
33 GALC p.Arg531His VAR_013966 rs200378205
34 GALC p.Gly553Arg VAR_013967 rs748573754
35 GALC p.Leu634Ser VAR_013968 rs138577661
36 GALC p.Thr668Arg VAR_013969
37 GALC p.Gly41Ser VAR_064431 rs387906955
38 GALC p.Glu130Lys VAR_064432 rs374635469
39 GALC p.Pro318Arg VAR_064433 rs387906954
40 GALC p.Gly323Arg VAR_064434
41 GALC p.Ile384Thr VAR_064435
42 GALC p.Arg396Leu VAR_064436
43 GALC p.Tyr490Asn VAR_064437 rs202135871
44 GALC p.Val681Met VAR_069512 rs200607029

ClinVar genetic disease variations for Krabbe Disease:

6
(showing 396, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh37 Chromosome 14, 88429736: 88429736
2 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh38 Chromosome 14, 87963392: 87963392
3 GALC GALC, 30-KB DEL, IVS10 deletion Pathogenic
4 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh37 Chromosome 14, 88411937: 88411937
5 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh38 Chromosome 14, 87945593: 87945593
6 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh37 Chromosome 14, 88407777: 88407777
7 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh38 Chromosome 14, 87941433: 87941433
8 GALC GALC, GLY553ARG single nucleotide variant Pathogenic
9 GALC GALC, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
10 GALC GALC, 1-BP DEL, 1901T deletion Pathogenic
11 GALC NM_000153.3(GALC): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic/Likely pathogenic rs199847983 GRCh37 Chromosome 14, 88434730: 88434730
12 GALC NM_000153.3(GALC): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic/Likely pathogenic rs199847983 GRCh38 Chromosome 14, 87968386: 87968386
13 GALC NM_000153.3(GALC): c.953C> G (p.Pro318Arg) single nucleotide variant Pathogenic rs387906954 GRCh37 Chromosome 14, 88431929: 88431929
14 GALC NM_000153.3(GALC): c.953C> G (p.Pro318Arg) single nucleotide variant Pathogenic rs387906954 GRCh38 Chromosome 14, 87965585: 87965585
15 GALC NM_000153.3(GALC): c.121G> A (p.Gly41Ser) single nucleotide variant Pathogenic rs387906955 GRCh37 Chromosome 14, 88459388: 88459388
16 GALC NM_000153.3(GALC): c.121G> A (p.Gly41Ser) single nucleotide variant Pathogenic rs387906955 GRCh38 Chromosome 14, 87993044: 87993044
17 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh37 Chromosome 14, 88429726: 88429726
18 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh38 Chromosome 14, 87963382: 87963382
19 GALC NM_000153.3(GALC): c.862T> C (p.Trp288Arg) single nucleotide variant Likely pathogenic rs398123177 GRCh37 Chromosome 14, 88434725: 88434725
20 GALC NM_000153.3(GALC): c.862T> C (p.Trp288Arg) single nucleotide variant Likely pathogenic rs398123177 GRCh38 Chromosome 14, 87968381: 87968381
21 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh37 Chromosome 10, 73572379: 73572379
22 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh38 Chromosome 10, 71812622: 71812622
23 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh37 Chromosome 10, 73572643: 73572643
24 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh38 Chromosome 10, 71812886: 71812886
25 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh37 Chromosome 10, 73574996: 73574996
26 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh38 Chromosome 10, 71815239: 71815239
27 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh37 Chromosome 14, 88411975: 88411975
28 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh38 Chromosome 14, 87945631: 87945631
29 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh37 Chromosome 14, 88407873: 88407873
30 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh38 Chromosome 14, 87941529: 87941529
31 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh37 Chromosome 14, 88411910: 88411910
32 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh38 Chromosome 14, 87945566: 87945566
33 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh37 Chromosome 14, 88411976: 88411976
34 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh38 Chromosome 14, 87945632: 87945632
35 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh37 Chromosome 14, 88414089: 88414089
36 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh38 Chromosome 14, 87947745: 87947745
37 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh37 Chromosome 14, 88431927: 88431927
38 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh38 Chromosome 14, 87965583: 87965583
39 GALC NM_000153.3(GALC): c.908+1G> A single nucleotide variant Likely pathogenic rs750524447 GRCh37 Chromosome 14, 88434678: 88434678
40 GALC NM_000153.3(GALC): c.908+1G> A single nucleotide variant Likely pathogenic rs750524447 GRCh38 Chromosome 14, 87968334: 87968334
41 GALC NM_000153.3(GALC): c.658C> T (p.Arg220Ter) single nucleotide variant Likely pathogenic rs766310671 GRCh37 Chromosome 14, 88442796: 88442796
42 GALC NM_000153.3(GALC): c.658C> T (p.Arg220Ter) single nucleotide variant Likely pathogenic rs766310671 GRCh38 Chromosome 14, 87976452: 87976452
43 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Likely pathogenic rs786204618 GRCh37 Chromosome 14, 88448571: 88448571
44 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Likely pathogenic rs786204618 GRCh38 Chromosome 14, 87982227: 87982227
45 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh38 Chromosome 14, 87984487: 87984487
46 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh37 Chromosome 14, 88450831: 88450831
47 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh37 Chromosome 14, 88452887: 88452887
48 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh38 Chromosome 14, 87986543: 87986543
49 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh37 Chromosome 14, 88459340: 88459340
50 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh38 Chromosome 14, 87992996: 87992996
51 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Likely pathogenic rs794727116 GRCh37 Chromosome 14, 88412024: 88412024
52 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Likely pathogenic rs794727116 GRCh38 Chromosome 14, 87945680: 87945680
53 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh37 Chromosome 14, 88454858: 88454858
54 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh38 Chromosome 14, 87988514: 87988514
55 GALC NM_000153.3(GALC): c.430delA (p.Ile144Leufs) deletion Pathogenic rs775277935 GRCh37 Chromosome 14, 88452845: 88452845
56 GALC NM_000153.3(GALC): c.430delA (p.Ile144Leufs) deletion Pathogenic rs775277935 GRCh38 Chromosome 14, 87986501: 87986501
57 GALC NM_000153.3(GALC): c.913A> G (p.Ile305Val) single nucleotide variant Benign/Likely benign rs74887188 GRCh37 Chromosome 14, 88431969: 88431969
58 GALC NM_000153.3(GALC): c.913A> G (p.Ile305Val) single nucleotide variant Benign/Likely benign rs74887188 GRCh38 Chromosome 14, 87965625: 87965625
59 GALC NM_000153.3(GALC): c.2041G> A (p.Val681Met) single nucleotide variant Likely pathogenic rs200607029 GRCh38 Chromosome 14, 87934749: 87934749
60 GALC NM_000153.3(GALC): c.2041G> A (p.Val681Met) single nucleotide variant Likely pathogenic rs200607029 GRCh37 Chromosome 14, 88401093: 88401093
61 GALC NM_000153.3(GALC): c.659G> A (p.Arg220Gln) single nucleotide variant Uncertain significance rs199967869 GRCh38 Chromosome 14, 87976451: 87976451
62 GALC NM_000153.3(GALC): c.659G> A (p.Arg220Gln) single nucleotide variant Uncertain significance rs199967869 GRCh37 Chromosome 14, 88442795: 88442795
63 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh38 Chromosome 14, 87986600: 87986600
64 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh37 Chromosome 14, 88452944: 88452944
65 GALC NM_000153.3(GALC): c.1901T> C (p.Leu634Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138577661 GRCh37 Chromosome 14, 88406259: 88406259
66 GALC NM_000153.3(GALC): c.1901T> C (p.Leu634Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138577661 GRCh38 Chromosome 14, 87939915: 87939915
67 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Likely benign rs1049882 GRCh38 Chromosome 10, 71819082: 71819082
68 PSAP NM_002778.3(PSAP): c.1380C> T (p.Pro460=) single nucleotide variant Likely benign rs1049882 GRCh37 Chromosome 10, 73578839: 73578839
69 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh38 Chromosome 10, 71819460: 71819460
70 CDH23; PSAP NM_002778.3(PSAP): c.1350+5G> A single nucleotide variant Benign/Likely benign rs11000016 GRCh37 Chromosome 10, 73579217: 73579217
71 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh38 Chromosome 10, 71851225: 71851225
72 PSAP NM_002778.3(PSAP): c.-4C> T single nucleotide variant Benign rs2070188 GRCh37 Chromosome 10, 73610982: 73610982
73 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Likely benign rs76455588 GRCh38 Chromosome 10, 71851231: 71851231
74 PSAP NM_002778.3(PSAP): c.-10A> G single nucleotide variant Likely benign rs76455588 GRCh37 Chromosome 10, 73610988: 73610988
75 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh38 Chromosome 10, 71851249: 71851249
76 PSAP NM_002778.3(PSAP): c.-28A> C single nucleotide variant Likely benign rs375720661 GRCh37 Chromosome 10, 73611006: 73611006
77 GALC NM_000153.3(GALC): c.1302C> T (p.Ser434=) single nucleotide variant Benign/Likely benign rs3213918 GRCh38 Chromosome 14, 87949881: 87949881
78 GALC NM_000153.3(GALC): c.1302C> T (p.Ser434=) single nucleotide variant Benign/Likely benign rs3213918 GRCh37 Chromosome 14, 88416225: 88416225
79 GALC NM_000153.3(GALC): c.397T> C (p.Leu133=) single nucleotide variant Benign/Likely benign rs56194647 GRCh37 Chromosome 14, 88452878: 88452878
80 GALC NM_000153.3(GALC): c.397T> C (p.Leu133=) single nucleotide variant Benign/Likely benign rs56194647 GRCh38 Chromosome 14, 87986534: 87986534
81 GALC NM_000153.3(GALC): c.18C> G (p.Leu6=) single nucleotide variant Uncertain significance rs886038260 GRCh37 Chromosome 14, 88459491: 88459491
82 GALC NM_000153.3(GALC): c.18C> G (p.Leu6=) single nucleotide variant Uncertain significance rs886038260 GRCh38 Chromosome 14, 87993147: 87993147
83 GALC NM_000153.3(GALC): c.956A> G (p.Tyr319Cys) single nucleotide variant Pathogenic rs183105855 GRCh37 Chromosome 14, 88431926: 88431926
84 GALC NM_000153.3(GALC): c.956A> G (p.Tyr319Cys) single nucleotide variant Pathogenic rs183105855 GRCh38 Chromosome 14, 87965582: 87965582
85 GALC NM_000153.3(GALC): c.908C> T (p.Ser303Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs756352952 GRCh37 Chromosome 14, 88434679: 88434679
86 GALC NM_000153.3(GALC): c.908C> T (p.Ser303Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs756352952 GRCh38 Chromosome 14, 87968335: 87968335
87 GALC NM_000153.3(GALC): c.195G> C (p.Gly65=) single nucleotide variant Pathogenic/Likely pathogenic rs886042057 GRCh38 Chromosome 14, 87992970: 87992970
88 GALC NM_000153.3(GALC): c.195G> C (p.Gly65=) single nucleotide variant Pathogenic/Likely pathogenic rs886042057 GRCh37 Chromosome 14, 88459314: 88459314
89 GALC NM_000153.3(GALC): c.243_244insAG (p.Ile82Argfs) insertion Pathogenic rs886043419 GRCh37 Chromosome 14, 88454819: 88454820
90 GALC NM_000153.3(GALC): c.243_244insAG (p.Ile82Argfs) insertion Pathogenic rs886043419 GRCh38 Chromosome 14, 87988475: 87988476
91 GALC NM_000153.3(GALC): c.1541T> C (p.Phe514Ser) single nucleotide variant Likely pathogenic rs375867319 GRCh37 Chromosome 14, 88412026: 88412026
92 GALC NM_000153.3(GALC): c.1541T> C (p.Phe514Ser) single nucleotide variant Likely pathogenic rs375867319 GRCh38 Chromosome 14, 87945682: 87945682
93 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh38 Chromosome 10, 71814940: 71814940
94 CDH23; PSAP NM_022124.5(CDH23): c.9739-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200638595 GRCh37 Chromosome 10, 73574697: 73574697
95 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh37 Chromosome 10, 73575103: 73575103
96 CDH23; PSAP NM_022124.5(CDH23): c.*68G> C single nucleotide variant Conflicting interpretations of pathogenicity rs527311705 GRCh38 Chromosome 10, 71815346: 71815346
97 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh37 Chromosome 10, 73576922: 73576922
98 PSAP NM_002778.3(PSAP): c.*276G> A single nucleotide variant Likely benign rs547409137 GRCh38 Chromosome 10, 71817165: 71817165
99 PSAP NM_002778.3(PSAP): c.*122C> G single nucleotide variant Likely benign rs113284884 GRCh37 Chromosome 10, 73577076: 73577076
100 PSAP NM_002778.3(PSAP): c.*122C> G single nucleotide variant Likely benign rs113284884 GRCh38 Chromosome 10, 71817319: 71817319
101 PSAP NM_002778.3(PSAP): c.*113C> T single nucleotide variant Uncertain significance rs544214520 GRCh37 Chromosome 10, 73577085: 73577085
102 PSAP NM_002778.3(PSAP): c.*113C> T single nucleotide variant Uncertain significance rs544214520 GRCh38 Chromosome 10, 71817328: 71817328
103 PSAP NM_002778.3(PSAP): c.*73C> T single nucleotide variant Likely benign rs541692197 GRCh37 Chromosome 10, 73577125: 73577125
104 PSAP NM_002778.3(PSAP): c.*73C> T single nucleotide variant Likely benign rs541692197 GRCh38 Chromosome 10, 71817368: 71817368
105 PSAP NM_002778.3(PSAP): c.1476T> C (p.Thr492=) single nucleotide variant Likely benign rs139178900 GRCh37 Chromosome 10, 73578437: 73578437
106 PSAP NM_002778.3(PSAP): c.1476T> C (p.Thr492=) single nucleotide variant Likely benign rs139178900 GRCh38 Chromosome 10, 71818680: 71818680
107 PSAP NM_002778.3(PSAP): c.1432-4A> G single nucleotide variant Uncertain significance rs775086571 GRCh37 Chromosome 10, 73578485: 73578485
108 PSAP NM_002778.3(PSAP): c.1432-4A> G single nucleotide variant Uncertain significance rs775086571 GRCh38 Chromosome 10, 71818728: 71818728
109 PSAP NM_002778.3(PSAP): c.1172C> T (p.Thr391Met) single nucleotide variant Uncertain significance rs202125074 GRCh37 Chromosome 10, 73579491: 73579491
110 PSAP NM_002778.3(PSAP): c.1172C> T (p.Thr391Met) single nucleotide variant Uncertain significance rs202125074 GRCh38 Chromosome 10, 71819734: 71819734
111 PSAP NM_002778.3(PSAP): c.1056C> T (p.Ser352=) single nucleotide variant Likely benign rs138328594 GRCh37 Chromosome 10, 73579607: 73579607
112 PSAP NM_002778.3(PSAP): c.1056C> T (p.Ser352=) single nucleotide variant Likely benign rs138328594 GRCh38 Chromosome 10, 71819850: 71819850
113 PSAP NM_002778.3(PSAP): c.911A> G (p.Lys304Arg) single nucleotide variant Uncertain significance rs757553906 GRCh37 Chromosome 10, 73580091: 73580091
114 PSAP NM_002778.3(PSAP): c.911A> G (p.Lys304Arg) single nucleotide variant Uncertain significance rs757553906 GRCh38 Chromosome 10, 71820334: 71820334
115 PSAP NM_002778.3(PSAP): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs886047151 GRCh38 Chromosome 10, 71829073: 71829073
116 PSAP NM_002778.3(PSAP): c.380G> A (p.Arg127His) single nucleotide variant Uncertain significance rs886047151 GRCh37 Chromosome 10, 73588830: 73588830
117 PSAP NM_002778.3(PSAP): c.336C> T (p.Ser112=) single nucleotide variant Likely benign rs370977178 GRCh38 Chromosome 10, 71831165: 71831165
118 PSAP NM_002778.3(PSAP): c.336C> T (p.Ser112=) single nucleotide variant Likely benign rs370977178 GRCh37 Chromosome 10, 73590922: 73590922
119 PSAP NM_002778.3(PSAP): c.174+9C> T single nucleotide variant Likely benign rs141133813 GRCh37 Chromosome 10, 73594120: 73594120
120 PSAP NM_002778.3(PSAP): c.174+9C> T single nucleotide variant Likely benign rs141133813 GRCh38 Chromosome 10, 71834363: 71834363
121 PSAP NM_002778.3(PSAP): c.94T> G (p.Trp32Gly) single nucleotide variant Uncertain significance rs200008050 GRCh38 Chromosome 10, 71834452: 71834452
122 PSAP NM_002778.3(PSAP): c.94T> G (p.Trp32Gly) single nucleotide variant Uncertain significance rs200008050 GRCh37 Chromosome 10, 73594209: 73594209
123 PSAP NM_002778.3(PSAP): c.88G> T (p.Ala30Ser) single nucleotide variant Likely benign rs144942998 GRCh38 Chromosome 10, 71834458: 71834458
124 PSAP NM_002778.3(PSAP): c.88G> T (p.Ala30Ser) single nucleotide variant Likely benign rs144942998 GRCh37 Chromosome 10, 73594215: 73594215
125 PSAP NM_002778.3(PSAP): c.41-13G> C single nucleotide variant Likely benign rs138010978 GRCh38 Chromosome 10, 71834518: 71834518
126 PSAP NM_002778.3(PSAP): c.41-13G> C single nucleotide variant Likely benign rs138010978 GRCh37 Chromosome 10, 73594275: 73594275
127 PSAP NM_002778.3(PSAP): c.-22G> C single nucleotide variant Likely benign rs569841336 GRCh38 Chromosome 10, 71851243: 71851243
128 PSAP NM_002778.3(PSAP): c.-22G> C single nucleotide variant Likely benign rs569841336 GRCh37 Chromosome 10, 73611000: 73611000
129 PSAP NM_002778.3(PSAP): c.-33T> C single nucleotide variant Likely benign rs143987544 GRCh38 Chromosome 10, 71851254: 71851254
130 PSAP NM_002778.3(PSAP): c.-33T> C single nucleotide variant Likely benign rs143987544 GRCh37 Chromosome 10, 73611011: 73611011
131 PSAP NM_002778.3(PSAP): c.-65C> T single nucleotide variant Likely benign rs145948209 GRCh37 Chromosome 10, 73611043: 73611043
132 PSAP NM_002778.3(PSAP): c.-65C> T single nucleotide variant Likely benign rs145948209 GRCh38 Chromosome 10, 71851286: 71851286
133 PSAP NM_002778.3(PSAP): c.-99T> G single nucleotide variant Uncertain significance rs886047156 GRCh37 Chromosome 10, 73611077: 73611077
134 PSAP NM_002778.3(PSAP): c.-99T> G single nucleotide variant Uncertain significance rs886047156 GRCh38 Chromosome 10, 71851320: 71851320
135 CDH23; PSAP NM_022124.5(CDH23): c.9291G> T (p.Lys3097Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs368441850 GRCh37 Chromosome 10, 73571482: 73571482
136 CDH23; PSAP NM_022124.5(CDH23): c.9291G> T (p.Lys3097Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs368441850 GRCh38 Chromosome 10, 71811725: 71811725
137 CDH23; PSAP NM_022124.5(CDH23): c.9860G> A (p.Gly3287Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs562590210 GRCh37 Chromosome 10, 73574830: 73574830
138 CDH23; PSAP NM_022124.5(CDH23): c.9860G> A (p.Gly3287Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs562590210 GRCh38 Chromosome 10, 71815073: 71815073
139 CDH23; PSAP NM_022124.5(CDH23): c.*349A> G single nucleotide variant Benign/Likely benign rs1867978 GRCh37 Chromosome 10, 73575384: 73575384
140 CDH23; PSAP NM_022124.5(CDH23): c.*349A> G single nucleotide variant Benign/Likely benign rs1867978 GRCh38 Chromosome 10, 71815627: 71815627
141 CDH23; PSAP NM_022124.5(CDH23): c.*515C> A single nucleotide variant Conflicting interpretations of pathogenicity rs16929375 GRCh38 Chromosome 10, 71815793: 71815793
142 CDH23; PSAP NM_022124.5(CDH23): c.*515C> A single nucleotide variant Conflicting interpretations of pathogenicity rs16929375 GRCh37 Chromosome 10, 73575550: 73575550
143 CDH23; PSAP NM_002778.3(PSAP): c.*891G> A single nucleotide variant Benign/Likely benign rs7869 GRCh38 Chromosome 10, 71816550: 71816550
144 CDH23; PSAP NM_002778.3(PSAP): c.*891G> A single nucleotide variant Benign/Likely benign rs7869 GRCh37 Chromosome 10, 73576307: 73576307
145 PSAP NM_002778.3(PSAP): c.*859C> T single nucleotide variant Uncertain significance rs886047149 GRCh38 Chromosome 10, 71816582: 71816582
146 PSAP NM_002778.3(PSAP): c.*859C> T single nucleotide variant Uncertain significance rs886047149 GRCh37 Chromosome 10, 73576339: 73576339
147 PSAP NM_001042465.2(PSAP): c.*574G> C single nucleotide variant Likely benign rs549402343 GRCh37 Chromosome 10, 73576624: 73576624
148 PSAP NM_001042465.2(PSAP): c.*574G> C single nucleotide variant Likely benign rs549402343 GRCh38 Chromosome 10, 71816867: 71816867
149 PSAP NM_002778.3(PSAP): c.1456C> T (p.His486Tyr) single nucleotide variant Uncertain significance rs749660716 GRCh37 Chromosome 10, 73578457: 73578457
150 PSAP NM_002778.3(PSAP): c.1456C> T (p.His486Tyr) single nucleotide variant Uncertain significance rs749660716 GRCh38 Chromosome 10, 71818700: 71818700
151 PSAP NM_002778.3(PSAP): c.1000A> T (p.Thr334Ser) single nucleotide variant Uncertain significance rs749663645 GRCh37 Chromosome 10, 73580002: 73580002
152 PSAP NM_002778.3(PSAP): c.1000A> T (p.Thr334Ser) single nucleotide variant Uncertain significance rs749663645 GRCh38 Chromosome 10, 71820245: 71820245
153 PSAP NM_002778.3(PSAP): c.577-10T> C single nucleotide variant Likely benign rs185892516 GRCh37 Chromosome 10, 73587924: 73587924
154 PSAP NM_002778.3(PSAP): c.577-10T> C single nucleotide variant Likely benign rs185892516 GRCh38 Chromosome 10, 71828167: 71828167
155 PSAP NM_002778.3(PSAP): c.227T> A (p.Met76Lys) single nucleotide variant Likely benign rs377024801 GRCh38 Chromosome 10, 71831868: 71831868
156 PSAP NM_002778.3(PSAP): c.227T> A (p.Met76Lys) single nucleotide variant Likely benign rs377024801 GRCh37 Chromosome 10, 73591625: 73591625
157 PSAP NM_002778.3(PSAP): c.204C> T (p.Asp68=) single nucleotide variant Likely benign rs143981174 GRCh38 Chromosome 10, 71831891: 71831891
158 PSAP NM_002778.3(PSAP): c.204C> T (p.Asp68=) single nucleotide variant Likely benign rs143981174 GRCh37 Chromosome 10, 73591648: 73591648
159 PSAP NM_002778.3(PSAP): c.-29C> T single nucleotide variant Likely benign rs201780377 GRCh38 Chromosome 10, 71851250: 71851250
160 PSAP NM_002778.3(PSAP): c.-29C> T single nucleotide variant Likely benign rs201780377 GRCh37 Chromosome 10, 73611007: 73611007
161 PSAP NM_002778.3(PSAP): c.-50G> T single nucleotide variant Uncertain significance rs886047154 GRCh37 Chromosome 10, 73611028: 73611028
162 PSAP NM_002778.3(PSAP): c.-50G> T single nucleotide variant Uncertain significance rs886047154 GRCh38 Chromosome 10, 71851271: 71851271
163 GALC NM_000153.3(GALC): c.*801A> T single nucleotide variant Likely benign rs114174103 GRCh38 Chromosome 14, 87933931: 87933931
164 GALC NM_000153.3(GALC): c.*801A> T single nucleotide variant Likely benign rs114174103 GRCh37 Chromosome 14, 88400275: 88400275
165 GALC NM_000153.3(GALC): c.*709A> C single nucleotide variant Likely benign rs45572135 GRCh37 Chromosome 14, 88400367: 88400367
166 GALC NM_000153.3(GALC): c.*709A> C single nucleotide variant Likely benign rs45572135 GRCh38 Chromosome 14, 87934023: 87934023
167 GALC NM_000153.3(GALC): c.*627A> G single nucleotide variant Benign rs413750 GRCh38 Chromosome 14, 87934105: 87934105
168 GALC NM_000153.3(GALC): c.*627A> G single nucleotide variant Benign rs413750 GRCh37 Chromosome 14, 88400449: 88400449
169 GALC NM_000153.3(GALC): c.1072C> T (p.Leu358=) single nucleotide variant Benign/Likely benign rs74073730 GRCh38 Chromosome 14, 87963473: 87963473
170 GALC NM_000153.3(GALC): c.1072C> T (p.Leu358=) single nucleotide variant Benign/Likely benign rs74073730 GRCh37 Chromosome 14, 88429817: 88429817
171 GALC NM_000153.3(GALC): c.997G> A (p.Gly333Arg) single nucleotide variant Uncertain significance rs190921137 GRCh38 Chromosome 14, 87965541: 87965541
172 GALC NM_000153.3(GALC): c.997G> A (p.Gly333Arg) single nucleotide variant Uncertain significance rs190921137 GRCh37 Chromosome 14, 88431885: 88431885
173 GALC NM_000153.3(GALC): c.583-11T> C single nucleotide variant Uncertain significance rs886050865 GRCh37 Chromosome 14, 88448598: 88448598
174 GALC NM_000153.3(GALC): c.583-11T> C single nucleotide variant Uncertain significance rs886050865 GRCh38 Chromosome 14, 87982254: 87982254
175 GALC NM_000153.3(GALC): c.318G> A (p.Gly106=) single nucleotide variant Uncertain significance rs886050867 GRCh37 Chromosome 14, 88454498: 88454498
176 GALC NM_000153.3(GALC): c.318G> A (p.Gly106=) single nucleotide variant Uncertain significance rs886050867 GRCh38 Chromosome 14, 87988154: 87988154
177 GALC NM_000153.3(GALC): c.41C> G (p.Ala14Gly) single nucleotide variant Uncertain significance rs373587692 GRCh38 Chromosome 14, 87993124: 87993124
178 GALC NM_000153.3(GALC): c.41C> G (p.Ala14Gly) single nucleotide variant Uncertain significance rs373587692 GRCh37 Chromosome 14, 88459468: 88459468
179 GALC NM_000153.3(GALC): c.-17G> A single nucleotide variant Uncertain significance rs886050868 GRCh38 Chromosome 14, 87993181: 87993181
180 GALC NM_000153.3(GALC): c.-17G> A single nucleotide variant Uncertain significance rs886050868 GRCh37 Chromosome 14, 88459525: 88459525
181 GALC NM_000153.3(GALC): c.-85T> A single nucleotide variant Uncertain significance rs886050870 GRCh38 Chromosome 14, 87993249: 87993249
182 GALC NM_000153.3(GALC): c.-85T> A single nucleotide variant Uncertain significance rs886050870 GRCh37 Chromosome 14, 88459593: 88459593
183 CDH23; PSAP NM_022124.5(CDH23): c.9942G> A (p.Thr3314=) single nucleotide variant Conflicting interpretations of pathogenicity rs376804660 GRCh37 Chromosome 10, 73574912: 73574912
184 CDH23; PSAP NM_022124.5(CDH23): c.9942G> A (p.Thr3314=) single nucleotide variant Conflicting interpretations of pathogenicity rs376804660 GRCh38 Chromosome 10, 71815155: 71815155
185 CDH23; PSAP NM_022124.5(CDH23): c.*361C> A single nucleotide variant Conflicting interpretations of pathogenicity rs115033851 GRCh37 Chromosome 10, 73575396: 73575396
186 CDH23; PSAP NM_022124.5(CDH23): c.*361C> A single nucleotide variant Conflicting interpretations of pathogenicity rs115033851 GRCh38 Chromosome 10, 71815639: 71815639
187 CDH23; PSAP NM_022124.5(CDH23): c.*430A> T single nucleotide variant Conflicting interpretations of pathogenicity rs562268606 GRCh37 Chromosome 10, 73575465: 73575465
188 CDH23; PSAP NM_022124.5(CDH23): c.*430A> T single nucleotide variant Conflicting interpretations of pathogenicity rs562268606 GRCh38 Chromosome 10, 71815708: 71815708
189 CDH23; PSAP NM_022124.5(CDH23): c.*434G> A single nucleotide variant Conflicting interpretations of pathogenicity rs529522213 GRCh38 Chromosome 10, 71815712: 71815712
190 CDH23; PSAP NM_022124.5(CDH23): c.*434G> A single nucleotide variant Conflicting interpretations of pathogenicity rs529522213 GRCh37 Chromosome 10, 73575469: 73575469
191 CDH23; PSAP NM_022124.5(CDH23): c.*510G> A single nucleotide variant Benign/Likely benign rs1054635 GRCh38 Chromosome 10, 71815788: 71815788
192 CDH23; PSAP NM_022124.5(CDH23): c.*510G> A single nucleotide variant Benign/Likely benign rs1054635 GRCh37 Chromosome 10, 73575545: 73575545
193 CDH23; PSAP NM_022124.5(CDH23): c.*588delA deletion Conflicting interpretations of pathogenicity rs148667421 GRCh38 Chromosome 10, 71815866: 71815866
194 CDH23; PSAP NM_022124.5(CDH23): c.*588delA deletion Conflicting interpretations of pathogenicity rs148667421 GRCh37 Chromosome 10, 73575623: 73575623
195 PSAP NM_002778.3(PSAP): c.*775G> A single nucleotide variant Likely benign rs79662404 GRCh37 Chromosome 10, 73576423: 73576423
196 PSAP NM_002778.3(PSAP): c.*775G> A single nucleotide variant Likely benign rs79662404 GRCh38 Chromosome 10, 71816666: 71816666
197 PSAP NM_002778.3(PSAP): c.1278C> T (p.Asn426=) single nucleotide variant Uncertain significance rs777227555 GRCh37 Chromosome 10, 73579294: 73579294
198 PSAP NM_002778.3(PSAP): c.1278C> T (p.Asn426=) single nucleotide variant Uncertain significance rs777227555 GRCh38 Chromosome 10, 71819537: 71819537
199 PSAP NM_002778.3(PSAP): c.1088C> T (p.Thr363Met) single nucleotide variant Uncertain significance rs140066253 GRCh37 Chromosome 10, 73579575: 73579575
200 PSAP NM_002778.3(PSAP): c.1088C> T (p.Thr363Met) single nucleotide variant Uncertain significance rs140066253 GRCh38 Chromosome 10, 71819818: 71819818
201 PSAP NM_002778.3(PSAP): c.1012A> G (p.Ile338Val) single nucleotide variant Likely benign rs544300820 GRCh37 Chromosome 10, 73579651: 73579651
202 PSAP NM_002778.3(PSAP): c.1012A> G (p.Ile338Val) single nucleotide variant Likely benign rs544300820 GRCh38 Chromosome 10, 71819894: 71819894
203 PSAP NM_002778.3(PSAP): c.923C> T (p.Pro308Leu) single nucleotide variant Uncertain significance rs886047150 GRCh37 Chromosome 10, 73580079: 73580079
204 PSAP NM_002778.3(PSAP): c.923C> T (p.Pro308Leu) single nucleotide variant Uncertain significance rs886047150 GRCh38 Chromosome 10, 71820322: 71820322
205 PSAP NM_002778.3(PSAP): c.798G> A (p.Ala266=) single nucleotide variant Uncertain significance rs199672678 GRCh37 Chromosome 10, 73581744: 73581744
206 PSAP NM_002778.3(PSAP): c.798G> A (p.Ala266=) single nucleotide variant Uncertain significance rs199672678 GRCh38 Chromosome 10, 71821987: 71821987
207 PSAP NM_002778.3(PSAP): c.570G> T (p.Gln190His) single nucleotide variant Likely benign rs142272618 GRCh37 Chromosome 10, 73588640: 73588640
208 PSAP NM_002778.3(PSAP): c.570G> T (p.Gln190His) single nucleotide variant Likely benign rs142272618 GRCh38 Chromosome 10, 71828883: 71828883
209 PSAP NM_002778.3(PSAP): c.189C> T (p.Cys63=) single nucleotide variant Likely benign rs111369573 GRCh38 Chromosome 10, 71831906: 71831906
210 PSAP NM_002778.3(PSAP): c.189C> T (p.Cys63=) single nucleotide variant Likely benign rs111369573 GRCh37 Chromosome 10, 73591663: 73591663
211 PSAP NM_002778.3(PSAP): c.-56A> G single nucleotide variant Uncertain significance rs534586960 GRCh37 Chromosome 10, 73611034: 73611034
212 PSAP NM_002778.3(PSAP): c.-56A> G single nucleotide variant Uncertain significance rs534586960 GRCh38 Chromosome 10, 71851277: 71851277
213 PSAP NM_002778.3(PSAP): c.-62A> G single nucleotide variant Uncertain significance rs886047155 GRCh37 Chromosome 10, 73611040: 73611040
214 PSAP NM_002778.3(PSAP): c.-62A> G single nucleotide variant Uncertain significance rs886047155 GRCh38 Chromosome 10, 71851283: 71851283
215 CDH23; PSAP NM_022124.5(CDH23): c.9799C> T (p.Arg3267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201727938 GRCh37 Chromosome 10, 73574769: 73574769
216 CDH23; PSAP NM_022124.5(CDH23): c.9799C> T (p.Arg3267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201727938 GRCh38 Chromosome 10, 71815012: 71815012
217 CDH23; PSAP NM_022124.5(CDH23): c.*104G> C single nucleotide variant Conflicting interpretations of pathogenicity rs377312107 GRCh37 Chromosome 10, 73575139: 73575139
218 CDH23; PSAP NM_022124.5(CDH23): c.*104G> C single nucleotide variant Conflicting interpretations of pathogenicity rs377312107 GRCh38 Chromosome 10, 71815382: 71815382
219 CDH23; PSAP NM_022124.5(CDH23): c.*141G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535544696 GRCh37 Chromosome 10, 73575176: 73575176
220 CDH23; PSAP NM_022124.5(CDH23): c.*141G> A single nucleotide variant Conflicting interpretations of pathogenicity rs535544696 GRCh38 Chromosome 10, 71815419: 71815419
221 CDH23; PSAP NM_022124.5(CDH23): c.*204A> G single nucleotide variant Benign/Likely benign rs2290022 GRCh37 Chromosome 10, 73575239: 73575239
222 CDH23; PSAP NM_022124.5(CDH23): c.*204A> G single nucleotide variant Benign/Likely benign rs2290022 GRCh38 Chromosome 10, 71815482: 71815482
223 PSAP NM_002778.3(PSAP): c.*935A> G single nucleotide variant Uncertain significance rs886047148 GRCh38 Chromosome 10, 71816506: 71816506
224 PSAP NM_002778.3(PSAP): c.*935A> G single nucleotide variant Uncertain significance rs886047148 GRCh37 Chromosome 10, 73576263: 73576263
225 PSAP NM_002778.3(PSAP): c.*9A> G single nucleotide variant Uncertain significance rs376628499 GRCh37 Chromosome 10, 73577189: 73577189
226 PSAP NM_002778.3(PSAP): c.*9A> G single nucleotide variant Uncertain significance rs376628499 GRCh38 Chromosome 10, 71817432: 71817432
227 PSAP NM_002778.3(PSAP): c.1452G> A (p.Ser484=) single nucleotide variant Likely benign rs114389264 GRCh37 Chromosome 10, 73578461: 73578461
228 PSAP NM_002778.3(PSAP): c.1452G> A (p.Ser484=) single nucleotide variant Likely benign rs114389264 GRCh38 Chromosome 10, 71818704: 71818704
229 PSAP NM_002778.3(PSAP): c.1261C> T (p.Arg421Cys) single nucleotide variant Likely benign rs529719024 GRCh37 Chromosome 10, 73579311: 73579311
230 PSAP NM_002778.3(PSAP): c.1261C> T (p.Arg421Cys) single nucleotide variant Likely benign rs529719024 GRCh38 Chromosome 10, 71819554: 71819554
231 PSAP NM_002778.3(PSAP): c.1258G> A (p.Asp420Asn) single nucleotide variant Uncertain significance rs760621775 GRCh37 Chromosome 10, 73579314: 73579314
232 PSAP NM_002778.3(PSAP): c.1258G> A (p.Asp420Asn) single nucleotide variant Uncertain significance rs760621775 GRCh38 Chromosome 10, 71819557: 71819557
233 PSAP NM_002778.3(PSAP): c.714C> G (p.Ala238=) single nucleotide variant Likely benign rs141199649 GRCh37 Chromosome 10, 73587777: 73587777
234 PSAP NM_002778.3(PSAP): c.714C> G (p.Ala238=) single nucleotide variant Likely benign rs141199649 GRCh38 Chromosome 10, 71828020: 71828020
235 PSAP NM_002778.3(PSAP): c.557G> A (p.Arg186His) single nucleotide variant Uncertain significance rs138880818 GRCh38 Chromosome 10, 71828896: 71828896
236 PSAP NM_002778.3(PSAP): c.557G> A (p.Arg186His) single nucleotide variant Uncertain significance rs138880818 GRCh37 Chromosome 10, 73588653: 73588653
237 PSAP NM_002778.3(PSAP): c.250-12G> A single nucleotide variant Uncertain significance rs886047152 GRCh38 Chromosome 10, 71831263: 71831263
238 PSAP NM_002778.3(PSAP): c.250-12G> A single nucleotide variant Uncertain significance rs886047152 GRCh37 Chromosome 10, 73591020: 73591020
239 PSAP NM_002778.3(PSAP): c.167C> G (p.Pro56Arg) single nucleotide variant Likely benign rs571773332 GRCh38 Chromosome 10, 71834379: 71834379
240 PSAP NM_002778.3(PSAP): c.167C> G (p.Pro56Arg) single nucleotide variant Likely benign rs571773332 GRCh37 Chromosome 10, 73594136: 73594136
241 PSAP NM_002778.3(PSAP): c.112A> T (p.Thr38Ser) single nucleotide variant Uncertain significance rs535525554 GRCh38 Chromosome 10, 71834434: 71834434
242 PSAP NM_002778.3(PSAP): c.112A> T (p.Thr38Ser) single nucleotide variant Uncertain significance rs535525554 GRCh37 Chromosome 10, 73594191: 73594191
243 PSAP NM_002778.3(PSAP): c.78C> T (p.Thr26=) single nucleotide variant Likely benign rs74145688 GRCh38 Chromosome 10, 71834468: 71834468
244 PSAP NM_002778.3(PSAP): c.78C> T (p.Thr26=) single nucleotide variant Likely benign rs74145688 GRCh37 Chromosome 10, 73594225: 73594225
245 PSAP NM_002778.3(PSAP): c.40+12G> A single nucleotide variant Uncertain significance rs886047153 GRCh38 Chromosome 10, 71851170: 71851170
246 PSAP NM_002778.3(PSAP): c.40+12G> A single nucleotide variant Uncertain significance rs886047153 GRCh37 Chromosome 10, 73610927: 73610927
247 GALC NM_000153.3(GALC): c.*1186_*1188delGAT deletion Benign rs141199615 GRCh38 Chromosome 14, 87933544: 87933546
248 GALC NM_000153.3(GALC): c.*1186_*1188delGAT deletion Benign rs141199615 GRCh37 Chromosome 14, 88399888: 88399890
249 GALC NM_000153.3(GALC): c.*1126G> A single nucleotide variant Likely benign rs1042035 GRCh38 Chromosome 14, 87933606: 87933606
250 GALC NM_000153.3(GALC): c.*1126G> A single nucleotide variant Likely benign rs1042035 GRCh37 Chromosome 14, 88399950: 88399950
251 GALC NM_000153.3(GALC): c.*626C> T single nucleotide variant Benign rs432946 GRCh38 Chromosome 14, 87934106: 87934106
252 GALC NM_000153.3(GALC): c.*626C> T single nucleotide variant Benign rs432946 GRCh37 Chromosome 14, 88400450: 88400450
253 GALC NM_000153.3(GALC): c.2001A> C (p.Gly667=) single nucleotide variant Uncertain significance rs769902280 GRCh38 Chromosome 14, 87934789: 87934789
254 GALC NM_000153.3(GALC): c.2001A> C (p.Gly667=) single nucleotide variant Uncertain significance rs769902280 GRCh37 Chromosome 14, 88401133: 88401133
255 GALC NM_000153.3(GALC): c.1573G> A (p.Glu525Lys) single nucleotide variant Uncertain significance rs146286491 GRCh38 Chromosome 14, 87945650: 87945650
256 GALC NM_000153.3(GALC): c.1573G> A (p.Glu525Lys) single nucleotide variant Uncertain significance rs146286491 GRCh37 Chromosome 14, 88411994: 88411994
257 GALC NM_000153.3(GALC): c.1418G> A (p.Arg473His) single nucleotide variant Uncertain significance rs374868151 GRCh38 Chromosome 14, 87947799: 87947799
258 GALC NM_000153.3(GALC): c.1418G> A (p.Arg473His) single nucleotide variant Uncertain significance rs374868151 GRCh37 Chromosome 14, 88414143: 88414143
259 GALC NM_000153.3(GALC): c.1376A> G (p.His459Arg) single nucleotide variant Uncertain significance rs755193670 GRCh38 Chromosome 14, 87947841: 87947841
260 GALC NM_000153.3(GALC): c.1376A> G (p.His459Arg) single nucleotide variant Uncertain significance rs755193670 GRCh37 Chromosome 14, 88414185: 88414185
261 GALC NM_000153.3(GALC): c.53C> T (p.Thr18Ile) single nucleotide variant Uncertain significance rs755139799 GRCh38 Chromosome 14, 87993112: 87993112
262 GALC NM_000153.3(GALC): c.53C> T (p.Thr18Ile) single nucleotide variant Uncertain significance rs755139799 GRCh37 Chromosome 14, 88459456: 88459456
263 GALC NM_000153.3(GALC): c.28T> C (p.Trp10Arg) single nucleotide variant Uncertain significance rs767913083 GRCh38 Chromosome 14, 87993137: 87993137
264 GALC NM_000153.3(GALC): c.28T> C (p.Trp10Arg) single nucleotide variant Uncertain significance rs767913083 GRCh37 Chromosome 14, 88459481: 88459481
265 GALC NM_000153.3(GALC): c.*1458T> C single nucleotide variant Uncertain significance rs757918900 GRCh38 Chromosome 14, 87933274: 87933274
266 GALC NM_000153.3(GALC): c.*1458T> C single nucleotide variant Uncertain significance rs757918900 GRCh37 Chromosome 14, 88399618: 88399618
267 GALC NM_000153.3(GALC): c.*1453A> G single nucleotide variant Benign rs405567 GRCh38 Chromosome 14, 87933279: 87933279
268 GALC NM_000153.3(GALC): c.*1453A> G single nucleotide variant Benign rs405567 GRCh37 Chromosome 14, 88399623: 88399623
269 GALC NM_000153.3(GALC): c.*1275G> A single nucleotide variant Benign rs1042042 GRCh38 Chromosome 14, 87933457: 87933457
270 GALC NM_000153.3(GALC): c.*1275G> A single nucleotide variant Benign rs1042042 GRCh37 Chromosome 14, 88399801: 88399801
271 GALC NM_000153.3(GALC): c.2053C> A (p.Arg685Ser) single nucleotide variant Uncertain significance rs756141815 GRCh38 Chromosome 14, 87934737: 87934737
272 GALC NM_000153.3(GALC): c.2053C> A (p.Arg685Ser) single nucleotide variant Uncertain significance rs756141815 GRCh37 Chromosome 14, 88401081: 88401081
273 GALC NM_000153.3(GALC): c.1731C> T (p.Phe577=) single nucleotide variant Uncertain significance rs201560122 GRCh38 Chromosome 14, 87941498: 87941498
274 GALC NM_000153.3(GALC): c.1731C> T (p.Phe577=) single nucleotide variant Uncertain significance rs201560122 GRCh37 Chromosome 14, 88407842: 88407842
275 GALC NM_000153.3(GALC): c.1642A> G (p.Thr548Ala) single nucleotide variant Uncertain significance rs886050864 GRCh38 Chromosome 14, 87945581: 87945581
276 GALC NM_000153.3(GALC): c.1642A> G (p.Thr548Ala) single nucleotide variant Uncertain significance rs886050864 GRCh37 Chromosome 14, 88411925: 88411925
277 GALC NM_000153.3(GALC): c.1162-4dupT duplication Uncertain significance rs751373579 GRCh38 Chromosome 14, 87950752: 87950752
278 GALC NM_000153.3(GALC): c.1162-4dupT duplication Uncertain significance rs751373579 GRCh37 Chromosome 14, 88417096: 88417096
279 GALC NM_000153.3(GALC): c.329-10_329-8delCTC deletion Conflicting interpretations of pathogenicity rs770389075 GRCh37 Chromosome 14, 88452954: 88452956
280 GALC NM_000153.3(GALC): c.329-10_329-8delCTC deletion Conflicting interpretations of pathogenicity rs770389075 GRCh38 Chromosome 14, 87986610: 87986612
281 GALC NM_000153.3(GALC): c.195+15G> A single nucleotide variant Uncertain significance rs748140458 GRCh37 Chromosome 14, 88459299: 88459299
282 GALC NM_000153.3(GALC): c.195+15G> A single nucleotide variant Uncertain significance rs748140458 GRCh38 Chromosome 14, 87992955: 87992955
283 GALC NM_000153.3(GALC): c.-21C> T single nucleotide variant Uncertain significance rs768255795 GRCh38 Chromosome 14, 87993185: 87993185
284 GALC NM_000153.3(GALC): c.-21C> T single nucleotide variant Uncertain significance rs768255795 GRCh37 Chromosome 14, 88459529: 88459529
285 GALC NM_000153.3(GALC): c.-29delC deletion Uncertain significance rs886050869 GRCh38 Chromosome 14, 87993193: 87993193
286 GALC NM_000153.3(GALC): c.-29delC deletion Uncertain significance rs886050869 GRCh37 Chromosome 14, 88459537: 88459537
287 GALC NM_000153.3(GALC): c.*1588T> G single nucleotide variant Benign rs17198 GRCh38 Chromosome 14, 87933144: 87933144
288 GALC NM_000153.3(GALC): c.*1588T> G single nucleotide variant Benign rs17198 GRCh37 Chromosome 14, 88399488: 88399488
289 GALC NM_000153.3(GALC): c.*1451C> A single nucleotide variant Uncertain significance rs138919458 GRCh38 Chromosome 14, 87933281: 87933281
290 GALC NM_000153.3(GALC): c.*1451C> A single nucleotide variant Uncertain significance rs138919458 GRCh37 Chromosome 14, 88399625: 88399625
291 GALC NM_000153.3(GALC): c.*989G> A single nucleotide variant Benign rs370559 GRCh38 Chromosome 14, 87933743: 87933743
292 GALC NM_000153.3(GALC): c.*989G> A single nucleotide variant Benign rs370559 GRCh37 Chromosome 14, 88400087: 88400087
293 GALC NM_000153.3(GALC): c.*723G> A single nucleotide variant Benign rs412915 GRCh38 Chromosome 14, 87934009: 87934009
294 GALC NM_000153.3(GALC): c.*723G> A single nucleotide variant Benign rs412915 GRCh37 Chromosome 14, 88400353: 88400353
295 GALC NM_000153.3(GALC): c.*591G> A single nucleotide variant Uncertain significance rs886050863 GRCh38 Chromosome 14, 87934141: 87934141
296 GALC NM_000153.3(GALC): c.*591G> A single nucleotide variant Uncertain significance rs886050863 GRCh37 Chromosome 14, 88400485: 88400485
297 GALC NM_000153.3(GALC): c.*590T> C single nucleotide variant Benign rs1042029 GRCh38 Chromosome 14, 87934142: 87934142
298 GALC NM_000153.3(GALC): c.*590T> C single nucleotide variant Benign rs1042029 GRCh37 Chromosome 14, 88400486: 88400486
299 GALC NM_000153.3(GALC): c.*395C> T single nucleotide variant Likely benign rs3850376 GRCh38 Chromosome 14, 87934337: 87934337
300 GALC NM_000153.3(GALC): c.*395C> T single nucleotide variant Likely benign rs3850376 GRCh37 Chromosome 14, 88400681: 88400681
301 GALC NM_000153.3(GALC): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs185073540 GRCh38 Chromosome 14, 87965532: 87965532
302 GALC NM_000153.3(GALC): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs185073540 GRCh37 Chromosome 14, 88431876: 88431876
303 GALC NM_000153.3(GALC): c.450A> T (p.Pro150=) single nucleotide variant Uncertain significance rs886050866 GRCh37 Chromosome 14, 88450870: 88450870
304 GALC NM_000153.3(GALC): c.450A> T (p.Pro150=) single nucleotide variant Uncertain significance rs886050866 GRCh38 Chromosome 14, 87984526: 87984526
305 GALC NM_000153.3(GALC): c.328+6A> G single nucleotide variant Uncertain significance rs201977747 GRCh37 Chromosome 14, 88454482: 88454482
306 GALC NM_000153.3(GALC): c.328+6A> G single nucleotide variant Uncertain significance rs201977747 GRCh38 Chromosome 14, 87988138: 87988138
307 GALC NM_000153.3(GALC): c.96G> T (p.Leu32=) single nucleotide variant Conflicting interpretations of pathogenicity rs113719127 GRCh37 Chromosome 14, 88459413: 88459413
308 GALC NM_000153.3(GALC): c.96G> T (p.Leu32=) single nucleotide variant Conflicting interpretations of pathogenicity rs113719127 GRCh38 Chromosome 14, 87993069: 87993069
309 GALC NM_000153.3(GALC): c.81C> T (p.Ala27=) single nucleotide variant Uncertain significance rs759433028 GRCh38 Chromosome 14, 87993084: 87993084
310 GALC NM_000153.3(GALC): c.81C> T (p.Ala27=) single nucleotide variant Uncertain significance rs759433028 GRCh37 Chromosome 14, 88459428: 88459428
311 GALC NM_000153.3(GALC): c.-67T> G single nucleotide variant Uncertain significance rs571945132 GRCh38 Chromosome 14, 87993231: 87993231
312 GALC NM_000153.3(GALC): c.-67T> G single nucleotide variant Uncertain significance rs571945132 GRCh37 Chromosome 14, 88459575: 88459575
313 GALC NM_000153.3(GALC): c.-68C> T single nucleotide variant Uncertain significance rs369469562 GRCh38 Chromosome 14, 87993232: 87993232
314 GALC NM_000153.3(GALC): c.-68C> T single nucleotide variant Uncertain significance rs369469562 GRCh37 Chromosome 14, 88459576: 88459576
315 CDH23; PSAP NM_022124.5(CDH23): c.9983G> A (p.Arg3328His) single nucleotide variant Conflicting interpretations of pathogenicity rs148475933 GRCh38 Chromosome 10, 71815196: 71815196
316 CDH23; PSAP NM_022124.5(CDH23): c.9983G> A (p.Arg3328His) single nucleotide variant Conflicting interpretations of pathogenicity rs148475933 GRCh37 Chromosome 10, 73574953: 73574953
317 PSAP NG_009301.1: g.40968C> T single nucleotide variant Likely benign rs75715348 GRCh38 Chromosome 10, 71815358: 71815358
318 PSAP NG_009301.1: g.40968C> T single nucleotide variant Likely benign rs75715348 GRCh37 Chromosome 10, 73575115: 73575115
319 PSAP NG_009301.1: g.40609G> A single nucleotide variant Likely benign rs140312023 GRCh38 Chromosome 10, 71815717: 71815717
320 PSAP NG_009301.1: g.40609G> A single nucleotide variant Likely benign rs140312023 GRCh37 Chromosome 10, 73575474: 73575474
321 PSAP NG_009301.1: g.40570C> G single nucleotide variant Likely benign rs564392413 GRCh38 Chromosome 10, 71815756: 71815756
322 PSAP NG_009301.1: g.40570C> G single nucleotide variant Likely benign rs564392413 GRCh37 Chromosome 10, 73575513: 73575513
323 PSAP NM_001042465.2(PSAP): c.-118G> A single nucleotide variant Likely benign rs28365838 GRCh38 Chromosome 10, 71851339: 71851339
324 PSAP NM_001042465.2(PSAP): c.-118G> A single nucleotide variant Likely benign rs28365838 GRCh37 Chromosome 10, 73611096: 73611096
325 GALC NM_000153.3(GALC): c.628A> T (p.Arg210Ter) single nucleotide variant Pathogenic rs202131052 GRCh37 Chromosome 14, 88442826: 88442826
326 GALC NM_000153.3(GALC): c.628A> T (p.Arg210Ter) single nucleotide variant Pathogenic rs202131052 GRCh38 Chromosome 14, 87976482: 87976482
327 GALC NM_000153.3(GALC): c.1890T> A (p.Tyr630Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057516453 GRCh38 Chromosome 14, 87939926: 87939926
328 GALC NM_000153.3(GALC): c.1890T> A (p.Tyr630Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057516453 GRCh37 Chromosome 14, 88406270: 88406270
329 GALC NM_000153.3(GALC): c.1851delT (p.Tyr617Terfs) deletion Likely pathogenic rs1057516433 GRCh37 Chromosome 14, 88406309: 88406309
330 GALC NM_000153.3(GALC): c.1851delT (p.Tyr617Terfs) deletion Likely pathogenic rs1057516433 GRCh38 Chromosome 14, 87939965: 87939965
331 GALC NM_000153.3(GALC): c.1837G> T (p.Gly613Ter) single nucleotide variant Likely pathogenic rs1057517033 GRCh37 Chromosome 14, 88406323: 88406323
332 GALC NM_000153.3(GALC): c.1837G> T (p.Gly613Ter) single nucleotide variant Likely pathogenic rs1057517033 GRCh38 Chromosome 14, 87939979: 87939979
333 GALC NM_000153.3(GALC): c.1670+1G> A single nucleotide variant Likely pathogenic rs749597090 GRCh38 Chromosome 14, 87945552: 87945552
334 GALC NM_000153.3(GALC): c.1670+1G> A single nucleotide variant Likely pathogenic rs749597090 GRCh37 Chromosome 14, 88411896: 88411896
335 GALC NM_000153.3(GALC): c.1586C> T (p.Thr529Met) single nucleotide variant Pathogenic/Likely pathogenic rs200960659 GRCh38 Chromosome 14, 87945637: 87945637
336 GALC NM_000153.3(GALC): c.1586C> T (p.Thr529Met) single nucleotide variant Pathogenic/Likely pathogenic rs200960659 GRCh37 Chromosome 14, 88411981: 88411981
337 GALC NM_000153.3(GALC): c.1426dupA (p.Ser476Lysfs) duplication Likely pathogenic rs1057517082 GRCh38 Chromosome 14, 87947791: 87947791
338 GALC NM_000153.3(GALC): c.1426dupA (p.Ser476Lysfs) duplication Likely pathogenic rs1057517082 GRCh37 Chromosome 14, 88414135: 88414135
339 GALC NM_000153.3(GALC): c.1272_1273insTAG (p.Val425_Arg685del) insertion Likely pathogenic rs1057517372 GRCh37 Chromosome 14, 88416254: 88416255
340 GALC NM_000153.3(GALC): c.1272_1273insTAG (p.Val425_Arg685del) insertion Likely pathogenic rs1057517372 GRCh38 Chromosome 14, 87949910: 87949911
341 GALC NM_000153.3(GALC): c.1273delG (p.Val425Tyrfs) deletion Likely pathogenic rs1057516394 GRCh37 Chromosome 14, 88416254: 88416254
342 GALC NM_000153.3(GALC): c.1273delG (p.Val425Tyrfs) deletion Likely pathogenic rs1057516394 GRCh38 Chromosome 14, 87949910: 87949910
343 GALC NM_000153.3(GALC): c.1065G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs1057516270 GRCh38 Chromosome 14, 87963480: 87963480
344 GALC NM_000153.3(GALC): c.1065G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs1057516270 GRCh37 Chromosome 14, 88429824: 88429824
345 GALC NM_000153.3(GALC): c.1021delG (p.Val341Serfs) deletion Likely pathogenic rs1057517382 GRCh38 Chromosome 14, 87965517: 87965517
346 GALC NM_000153.3(GALC): c.1021delG (p.Val341Serfs) deletion Likely pathogenic rs1057517382 GRCh37 Chromosome 14, 88431861: 88431861
347 GALC NM_000153.3(GALC): c.1012delG (p.Glu338Asnfs) deletion Likely pathogenic rs1057516469 GRCh38 Chromosome 14, 87965526: 87965526
348 GALC NM_000153.3(GALC): c.1012delG (p.Glu338Asnfs) deletion Likely pathogenic rs1057516469 GRCh37 Chromosome 14, 88431870: 88431870
349 GALC NM_000153.3(GALC): c.972delG (p.Met325Terfs) deletion Likely pathogenic rs1057516808 GRCh37 Chromosome 14, 88431910: 88431910
350 GALC NM_000153.3(GALC): c.972delG (p.Met325Terfs) deletion Likely pathogenic rs1057516808 GRCh38 Chromosome 14, 87965566: 87965566
351 GALC NM_000153.3(GALC): c.952C> G (p.Pro318Ala) single nucleotide variant Likely pathogenic rs1057516642 GRCh38 Chromosome 14, 87965586: 87965586
352 GALC NM_000153.3(GALC): c.952C> G (p.Pro318Ala) single nucleotide variant Likely pathogenic rs1057516642 GRCh37 Chromosome 14, 88431930: 88431930
353 GALC NM_000153.3(GALC): c.946C> T (p.Gln316Ter) single nucleotide variant Likely pathogenic rs776368825 GRCh38 Chromosome 14, 87965592: 87965592
354 GALC NM_000153.3(GALC): c.946C> T (p.Gln316Ter) single nucleotide variant Likely pathogenic rs776368825 GRCh37 Chromosome 14, 88431936: 88431936
355 GALC NM_000153.3(GALC): c.533G> A (p.Trp178Ter) single nucleotide variant Likely pathogenic rs968905231 GRCh37 Chromosome 14, 88450787: 88450787
356 GALC NM_000153.3(GALC): c.533G> A (p.Trp178Ter) single nucleotide variant Likely pathogenic rs968905231 GRCh38 Chromosome 14, 87984443: 87984443
357 GALC NM_000153.3(GALC): c.467_468dupGG (p.Leu157Glyfs) duplication Likely pathogenic rs1057517185 GRCh37 Chromosome 14, 88450852: 88450853
358 GALC NM_000153.3(GALC): c.467_468dupGG (p.Leu157Glyfs) duplication Likely pathogenic rs1057517185 GRCh38 Chromosome 14, 87984508: 87984509
359 GALC NM_000153.3(GALC): c.442+2T> G single nucleotide variant Likely pathogenic rs1057516632 GRCh38 Chromosome 14, 87986487: 87986487
360 GALC NM_000153.3(GALC): c.442+2T> G single nucleotide variant Likely pathogenic rs1057516632 GRCh37 Chromosome 14, 88452831: 88452831
361 GALC NM_000153.3(GALC): c.415A> T (p.Lys139Ter) single nucleotide variant Likely pathogenic rs1057516673 GRCh38 Chromosome 14, 87986516: 87986516
362 GALC NM_000153.3(GALC): c.415A> T (p.Lys139Ter) single nucleotide variant Likely pathogenic rs1057516673 GRCh37 Chromosome 14, 88452860: 88452860
363 GALC NM_000153.3(GALC): c.328+1G> T single nucleotide variant Likely pathogenic rs779701490 GRCh38 Chromosome 14, 87988143: 87988143
364 GALC NM_000153.3(GALC): c.328+1G> T single nucleotide variant Likely pathogenic rs779701490 GRCh37 Chromosome 14, 88454487: 88454487
365 GALC NM_000153.3(GALC): c.190_195+9del15 deletion Likely pathogenic rs1057517187 GRCh37 Chromosome 14, 88459305: 88459319
366 GALC NM_000153.3(GALC): c.190_195+9del15 deletion Likely pathogenic rs1057517187 GRCh38 Chromosome 14, 87992961: 87992975
367 GALC NM_000153.3(GALC): c.129C> G (p.Tyr43Ter) single nucleotide variant Likely pathogenic rs1057516816 GRCh37 Chromosome 14, 88459380: 88459380
368 GALC NM_000153.3(GALC): c.129C> G (p.Tyr43Ter) single nucleotide variant Likely pathogenic rs1057516816 GRCh38 Chromosome 14, 87993036: 87993036
369 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
370 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
371 GALC NM_000153.3(GALC): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs200532368 GRCh37 Chromosome 14, 88452896: 88452896
372 GALC NM_000153.3(GALC): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs200532368 GRCh38 Chromosome 14, 87986552: 87986552
373 GALC NM_001201401.1(GALC): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 88459315: 88459315
374 GALC NM_001201401.1(GALC): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 87992971: 87992971
375 GALC NM_000153.3(GALC): c.1158_1161+6delCATGGTAAAC deletion Pathogenic rs759068540 GRCh37 Chromosome 14, 88429722: 88429731
376 GALC NM_000153.3(GALC): c.1158_1161+6delCATGGTAAAC deletion Pathogenic rs759068540 GRCh38 Chromosome 14, 87963378: 87963387
377 GALC NC_000014.9: g.(?_87934712)_(87950768_?)del deletion Pathogenic GRCh38 Chromosome 14, 87934712: 87950768
378 GALC NC_000014.9: g.(?_87934712)_(87950768_?)del deletion Pathogenic GRCh37 Chromosome 14, 88401056: 88417112
379 GALC NM_000153.3(GALC): c.1788C> T (p.Phe596=) single nucleotide variant Benign rs115018138 GRCh38 Chromosome 14, 87941441: 87941441
380 GALC NM_000153.3(GALC): c.1788C> T (p.Phe596=) single nucleotide variant Benign rs115018138 GRCh37 Chromosome 14, 88407785: 88407785
381 GALC NM_000153.3(GALC): c.1236T> A (p.Val412=) single nucleotide variant Benign rs112531377 GRCh38 Chromosome 14, 87950674: 87950674
382 GALC NM_000153.3(GALC): c.1236T> A (p.Val412=) single nucleotide variant Benign rs112531377 GRCh37 Chromosome 14, 88417018: 88417018
383 GALC NM_000153.3(GALC): c.1161+1delG deletion Likely pathogenic GRCh37 Chromosome 14, 88429727: 88429727
384 GALC NM_000153.3(GALC): c.1161+1delG deletion Likely pathogenic GRCh38 Chromosome 14, 87963383: 87963383
385 GALC NM_000153.3(GALC): c.1620G> A (p.Thr540=) single nucleotide variant Benign rs367327 GRCh38 Chromosome 14, 87945603: 87945603
386 GALC NM_000153.3(GALC): c.1620G> A (p.Thr540=) single nucleotide variant Benign rs367327 GRCh37 Chromosome 14, 88411947: 88411947
387 GALC NM_000153.3(GALC): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs770485731 GRCh37 Chromosome 14, 88417068: 88417068
388 GALC NM_000153.3(GALC): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs770485731 GRCh38 Chromosome 14, 87950724: 87950724
389 GALC NM_000153.3(GALC): c.195+10A> G single nucleotide variant Benign rs191767015 GRCh38 Chromosome 14, 87992960: 87992960
390 GALC NM_000153.3(GALC): c.195+10A> G single nucleotide variant Benign rs191767015 GRCh37 Chromosome 14, 88459304: 88459304
391 GALC NM_000153.3(GALC): c.1488_1489+2delTGGT deletion Pathogenic GRCh37 Chromosome 14, 88414070: 88414073
392 GALC NM_000153.3(GALC): c.1488_1489+2delTGGT deletion Pathogenic GRCh38 Chromosome 14, 87947726: 87947729
393 GALC NM_001201401.1(GALC): c.509T> C (p.Ile170Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 88450742: 88450742
394 GALC NM_001201401.1(GALC): c.509T> C (p.Ile170Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 87984398: 87984398
395 GALC NC_000014.9: g.(?_87968315)_(87968510_?)del deletion Pathogenic GRCh37 Chromosome 14, 88434659: 88434854
396 GALC NC_000014.9: g.(?_87968315)_(87968510_?)del deletion Pathogenic GRCh38 Chromosome 14, 87968315: 87968510

Expression for Krabbe Disease

Search GEO for disease gene expression data for Krabbe Disease.

Pathways for Krabbe Disease

Pathways related to Krabbe Disease according to KEGG:

37 (showing 2, show less)
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 ARSA CASP3 CHIT1 GAA PLA2G2A PLA2G6
2
Show member pathways
13.6 ARSA CHIT1 GAA GALC PLA2G2A PLA2G4A
3
Show member pathways
12.07 ARSA GALC PSAP
4
Show member pathways
12.03 CASP3 PLA2G2A PLA2G4A PLA2G6
5
Show member pathways
11.78 PLA2G2A PLA2G4A PLA2G6
6
Show member pathways
11.56 PLA2G2A PLA2G4A PLA2G6
7 11.35 ARSA GAA GALC PSAP
8 11.24 PLA2G2A PLA2G4A
9
Show member pathways
11.21 PLA2G2A PLA2G4A
10 11.1 CASP3 PLA2G2A PLA2G4A
11 11 CASP3 MBP PLA2G2A PLA2G6
12 10.92 PLA2G4A PLA2G6
13 10.9 PLA2G2A PLA2G4A
14 10.81 PLA2G2A PLA2G6

GO Terms for Krabbe Disease

Cellular components related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.35 ARSA CHIT1 GAA GALC PSAP
2 azurophil granule membrane GO:0035577 9.16 GAA PSAP
3 lysosomal lumen GO:0043202 8.92 ARSA GAA GALC PSAP

Biological processes related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 GALC PLA2G2A PLA2G4A PLA2G6 PSAP
2 neutrophil degranulation GO:0043312 9.76 ARSA CHIT1 GAA PSAP
3 cellular response to organic substance GO:0071310 9.54 CASP3 PSAP
4 phosphatidic acid biosynthetic process GO:0006654 9.52 PLA2G2A PLA2G4A
5 sphingolipid metabolic process GO:0006665 9.51 GALC PSAP
6 glycosphingolipid metabolic process GO:0006687 9.5 ARSA GALC PSAP
7 arachidonic acid secretion GO:0050482 9.49 PLA2G2A PLA2G4A
8 phosphatidylserine acyl-chain remodeling GO:0036150 9.48 PLA2G2A