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:

(show top 50) (show all 55)
# 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

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 (show all 47)
# 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
# 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
# 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):

(show all 49)
# 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:

(show all 22)
# 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:

(show top 50) (show all 251)
# 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

Variations for Krabbe Disease

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

75 (show all 44)
# 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
(show top 50) (show all 396)
# 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

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
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

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

(show all 14)
# 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:

# 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:

(show all 14)
# 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 PLA2G4A
9 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.43 PLA2G2A PLA2G4A
10 phosphatidylcholine acyl-chain remodeling GO:0036151 9.43 PLA2G2A PLA2G4A PLA2G6
11 phosphatidylinositol acyl-chain remodeling GO:0036149 9.4 PLA2G2A PLA2G4A
12 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.33 PLA2G2A PLA2G4A PLA2G6
13 lipid catabolic process GO:0016042 9.26 GALC PLA2G2A PLA2G4A PLA2G6
14 metabolic process GO:0008152 9.1 ARSA CHIT1 GAA GALC PLA2G4A PLA2G6

Molecular functions related to Krabbe Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 CHIT1 GAA GALC
2 phospholipase A2 activity GO:0004623 9.43 PLA2G2A PLA2G4A PLA2G6
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 CHIT1 GAA
4 calcium-dependent phospholipase A2 activity GO:0047498 9.37 PLA2G2A PLA2G4A
5 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.33 PLA2G2A PLA2G4A PLA2G6
6 hydrolase activity GO:0016787 9.23 ARSA CASP3 CHIT1 GAA GALC PLA2G2A
7 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.13 PLA2G2A PLA2G4A PLA2G6

Sources for Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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