GLD
MCID: KRB001
MIFTS: 68

Krabbe Disease (GLD)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 40
Galactosylceramide Beta-Galactosidase Deficiency 57 12 53 75 29 6
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 Methylprednisolone hemisuccinate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are seizures and ataxia

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.

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)

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.  

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.

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 68)
# Related Disease Score Top Affiliating Genes
1 infantile krabbe disease 33.8 PSAP GALC
2 sphingolipidosis 31.5 PSAP GALC ARSA
3 leukodystrophy 30.9 PSAP GALC ARSA
4 metachromatic leukodystrophy 30.3 PSAP GALC ARSA
5 central nervous system disease 30.1 SNCA MBP CASP3
6 gangliosidosis gm1 29.9 PSAP ARSA
7 nervous system disease 29.6 SNCA MBP CASP3
8 gaucher's disease 29.6 SNCA PSAP CHIT1 ARSA
9 krabbe disease, atypical, due to saposin a deficiency 12.6
10 adult krabbe disease 12.2
11 late-infantile/juvenile krabbe disease 12.1
12 lymphedema, hereditary, iii 11.1
13 congenital generalized lipodystrophy 11.1
14 sturge-weber syndrome 11.0
15 spasticity 11.0
16 cerebral atrophy 11.0
17 hurler syndrome 10.4
18 peripheral nervous system disease 10.3
19 neuropathy 10.2
20 spinocerebellar degeneration 10.2
21 hematopoietic stem cell transplantation 10.2
22 congenital fiber-type disproportion 10.1
23 depression 10.1
24 aspartylglucosaminuria 10.1
25 fucosidosis 10.1
26 gaucher disease, type iii 10.1
27 graft-versus-host disease 10.1
28 hydrocephalus 10.1
29 mannosidosis 10.1
30 obstructive hydrocephalus 10.1
31 demyelinating disease 10.1
32 wallerian degeneration 10.1
33 tremor 10.1
34 glycoproteinosis 10.1 PSAP GAA
35 gaucher disease, type i 10.1 CHIT1 PSAP
36 metachromatic leukodystrophy, juvenile form 10.1 PSAP ARSA
37 metachromatic leukodystrophy, late infantile form 10.1 PSAP ARSA
38 metachromatic leukodystrophy, adult form 10.1 PSAP ARSA
39 systemic lupus erythematosus 10.1
40 lupus erythematosus 10.1
41 multiple sclerosis 10.1
42 inclusion-cell disease 10.1 PSAP ARSA
43 parkinson disease 15, autosomal recessive early-onset 10.0 SNCA PLA2G6
44 neurodegeneration with brain iron accumulation 1 10.0 SNCA PLA2G6
45 tay-sachs disease 10.0 ARSA PSAP
46 mucopolysaccharidosis, type ii 10.0 GAA ARSA
47 lipid storage disease 10.0 PSAP GALC ARSA
48 spinal cord injury 10.0 CASP3 PLA2G2A
49 autoimmune disease of peripheral nervous system 10.0 MBP GALC
50 mucopolysaccharidosis, type vi 10.0 GAA ARSA

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 cns demyelination 32 HP:0007305
46 decerebrate rigidity 32 HP:0025013
47 abnormal flash visual evoked potentials 32 HP:0007928

UMLS symptoms related to Krabbe Disease:


seizures, vomiting, hyperirritability

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 PLA2G6
2 cellular MP:0005384 10 CASP3 GAA GALC MBP PLA2G6 PSAP
3 growth/size/body region MP:0005378 9.98 CASP3 GAA GALC MBP PLA2G6 PSAP
4 homeostasis/metabolism MP:0005376 9.97 ARSA CASP3 GAA GALC MBP PLA2G6
5 immune system MP:0005387 9.92 ARSA CASP3 CHIT1 GALC MBP PLA2G6
6 hearing/vestibular/ear MP:0005377 9.71 ARSA CASP3 MBP PSAP
7 nervous system MP:0003631 9.7 ARSA CASP3 GALC MBP PLA2G6 PSAP
8 muscle MP:0005369 9.65 CASP3 GAA GALC PLA2G6 PSAP
9 skeleton MP:0005390 9.43 CASP3 GAA GALC PLA2G6 PSAP SNCA
10 vision/eye MP:0005391 9.02 CASP3 GALC MBP PLA2G6 PSAP

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
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Prednisolone acetate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
10 Methylprednisolone acetate Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3,Not Applicable
12 Immunologic Factors Phase 2, Phase 3,Not Applicable
13 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
14 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
17
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
18 tannic acid Approved Phase 2,Not Applicable
19
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
20
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
23
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
26
rituximab Approved Phase 2 174722-31-7 10201696
27
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
28
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
29
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
30
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Tocotrienol Investigational Phase 2 6829-55-6
33 Calcineurin Inhibitors Phase 2,Not Applicable
34 Antifungal Agents Phase 2,Not Applicable
35 Dermatologic Agents Phase 2,Not Applicable
36 Antimetabolites, Antineoplastic Phase 2,Not Applicable
37 Anti-Infective Agents Phase 2,Not Applicable
38 Cyclosporins Phase 2,Not Applicable
39 Antimetabolites Phase 2,Not Applicable
40 Nucleic Acid Synthesis Inhibitors Phase 2
41 Anti-Bacterial Agents Phase 2,Not Applicable
42 Antibiotics, Antitubercular Phase 2,Not Applicable
43 Antitubercular Agents Phase 2,Not Applicable
44 Tocopherols Phase 2
45 Vitamins Phase 2
46 Tocotrienols Phase 2
47 N-monoacetylcystine Phase 2
48 Alpha-lipoic Acid Phase 2
49 Thioctic Acid Phase 2

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: BioKrabbe 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, Bone Marrow, Eye, Skin, Kidney, Spinal Cord

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(show top 50) (show all 265)
# 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
Diffuse Cranial Nerve Involvement in a Patient With Early Infantile Krabbe Disease. ( 30190178 )
2018
10
Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease. ( 30023296 )
2018
11
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. ( 30089515 )
2018
12
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease. ( 30176352 )
2018
13
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. ( 30209698 )
2018
14
Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep. ( 30328384 )
2018
15
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease. ( 30546085 )
2018
16
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ( 28168127 )
2017
17
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. ( 28170189 )
2017
18
Stem cell transplantation in Krabbe disease: New truths discovered and opinions change. ( 28855407 )
2017
19
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study. ( 28855403 )
2017
20
WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease. ( 28552323 )
2017
21
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity inA vitro. ( 28109651 )
2017
22
Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease. ( 28598007 )
2017
23
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. ( 28592445 )
2017
24
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. ( 27126738 )
2016
25
Insights into the Pathogenesis and Treatment of Krabbe Disease. ( 27491217 )
2016
26
Thickening of the cauda equina roots: a common finding in Krabbe disease. ( 27137647 )
2016
27
Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging. ( 27423612 )
2016
28
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 27920424 )
2016
29
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves. ( 27040675 )
2016
30
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 28442746 )
2016
31
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. ( 26915362 )
2016
32
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
33
Clinical management of Krabbe disease. ( 27638597 )
2016
34
Challenge of phenotype estimation for optimal treatment of Krabbe disease. ( 27638587 )
2016
35
Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. ( 26840509 )
2016
36
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. ( 27559102 )
2016
37
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. ( 27638604 )
2016
38
Krabbe disease: One Hundred years from the bedside to the bench to the bedside. ( 27638583 )
2016
39
A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. ( 28000364 )
2016
40
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ( 27679535 )
2016
41
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. ( 27545315 )
2016
42
Chaperones as potential therapeutics for Krabbe disease. ( 27638605 )
2016
43
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. ( 27638595 )
2016
44
Newborn screening for Krabbe disease in New York State: the first eight years' experience. ( 26795590 )
2016
45
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. ( 27638581 )
2016
46
Should states adopt newborn screening for early infantile Krabbe disease? ( 26845105 )
2016
47
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. ( 27171547 )
2016
48
Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease. ( 27677296 )
2016
49
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. ( 27785412 )
2016
50
Gene therapy for CNS diseases - Krabbe disease. ( 27525222 )
2016

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 rs105751664
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 608)
# 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 CDH23; PSAP NM_022124.5(CDH23): c.9319+11G> A single nucleotide variant Benign/Likely benign rs11000013 GRCh37 Chromosome 10, 73571521: 73571521
18 CDH23; PSAP NM_022124.5(CDH23): c.9319+11G> A single nucleotide variant Benign/Likely benign rs11000013 GRCh38 Chromosome 10, 71811764: 71811764
19 CDH23; PSAP NM_022124.5(CDH23): c.9373T> C (p.Phe3125Leu) single nucleotide variant Benign/Likely benign rs45583140 GRCh37 Chromosome 10, 73571765: 73571765
20 CDH23; PSAP NM_022124.5(CDH23): c.9373T> C (p.Phe3125Leu) single nucleotide variant Benign/Likely benign rs45583140 GRCh38 Chromosome 10, 71812008: 71812008
21 CDH23; PSAP NM_022124.5(CDH23): c.9501G> A (p.Thr3167=) single nucleotide variant Conflicting interpretations of pathogenicity rs144906721 GRCh37 Chromosome 10, 73572357: 73572357
22 CDH23; PSAP NM_022124.5(CDH23): c.9501G> A (p.Thr3167=) single nucleotide variant Conflicting interpretations of pathogenicity rs144906721 GRCh38 Chromosome 10, 71812600: 71812600
23 CDH23; PSAP NM_022124.5(CDH23): c.9758A> C (p.Asp3253Ala) single nucleotide variant Benign/Likely benign rs140463385 GRCh37 Chromosome 10, 73574728: 73574728
24 CDH23; PSAP NM_022124.5(CDH23): c.9758A> C (p.Asp3253Ala) single nucleotide variant Benign/Likely benign rs140463385 GRCh38 Chromosome 10, 71814971: 71814971
25 CDH23; PSAP NM_022124.5(CDH23): c.9873G> A (p.Thr3291=) single nucleotide variant Benign/Likely benign rs2290021 GRCh37 Chromosome 10, 73574843: 73574843
26 CDH23; PSAP NM_022124.5(CDH23): c.9873G> A (p.Thr3291=) single nucleotide variant Benign/Likely benign rs2290021 GRCh38 Chromosome 10, 71815086: 71815086
27 CDH23; PSAP NM_022124.5(CDH23): c.9903C> T (p.Pro3301=) single nucleotide variant Benign/Likely benign rs55717455 GRCh37 Chromosome 10, 73574873: 73574873
28 CDH23; PSAP NM_022124.5(CDH23): c.9903C> T (p.Pro3301=) single nucleotide variant Benign/Likely benign rs55717455 GRCh38 Chromosome 10, 71815116: 71815116
29 CDH23; PSAP NM_022124.5(CDH23): c.9978C> T (p.Asn3326=) single nucleotide variant Benign rs73277900 GRCh37 Chromosome 10, 73574948: 73574948
30 CDH23; PSAP NM_022124.5(CDH23): c.9978C> T (p.Asn3326=) single nucleotide variant Benign rs73277900 GRCh38 Chromosome 10, 71815191: 71815191
31 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh37 Chromosome 14, 88429726: 88429726
32 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh38 Chromosome 14, 87963382: 87963382
33 GALC NM_000153.3(GALC): c.1162-4delT deletion Conflicting interpretations of pathogenicity rs11300320 GRCh37 Chromosome 14, 88417096: 88417096
34 GALC NM_000153.3(GALC): c.1162-4delT deletion Conflicting interpretations of pathogenicity rs11300320 GRCh38 Chromosome 14, 87950752: 87950752
35 GALC NM_000153.3(GALC): c.1350C> T (p.Ser450=) single nucleotide variant Benign rs398076 GRCh37 Chromosome 14, 88414211: 88414211
36 GALC NM_000153.3(GALC): c.1350C> T (p.Ser450=) single nucleotide variant Benign rs398076 GRCh38 Chromosome 14, 87947867: 87947867
37 GALC NM_000153.3(GALC): c.1403C> G (p.Thr468Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34134328 GRCh37 Chromosome 14, 88414158: 88414158
38 GALC NM_000153.3(GALC): c.1403C> G (p.Thr468Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34134328 GRCh38 Chromosome 14, 87947814: 87947814
39 GALC NM_000153.3(GALC): c.1671-15C> T single nucleotide variant Benign rs12432149 GRCh37 Chromosome 14, 88407917: 88407917
40 GALC NM_000153.3(GALC): c.1671-15C> T single nucleotide variant Benign rs12432149 GRCh38 Chromosome 14, 87941573: 87941573
41 GALC NM_000153.3(GALC): c.1685T> C (p.Ile562Thr) single nucleotide variant Benign rs398607 GRCh37 Chromosome 14, 88407888: 88407888
42 GALC NM_000153.3(GALC): c.1685T> C (p.Ile562Thr) single nucleotide variant Benign rs398607 GRCh38 Chromosome 14, 87941544: 87941544
43 GALC NM_000153.3(GALC): c.1698A> T (p.Val566=) single nucleotide variant Benign rs421466 GRCh37 Chromosome 14, 88407875: 88407875
44 GALC NM_000153.3(GALC): c.1698A> T (p.Val566=) single nucleotide variant Benign rs421466 GRCh38 Chromosome 14, 87941531: 87941531
45 GALC NM_000153.3(GALC): c.1834+5C> G single nucleotide variant Benign rs448805 GRCh37 Chromosome 14, 88407734: 88407734
46 GALC NM_000153.3(GALC): c.1834+5C> G single nucleotide variant Benign rs448805 GRCh38 Chromosome 14, 87941390: 87941390
47 GALC NM_000153.3(GALC): c.1921A> G (p.Thr641Ala) single nucleotide variant Benign rs421262 GRCh37 Chromosome 14, 88401213: 88401213
48 GALC NM_000153.3(GALC): c.1921A> G (p.Thr641Ala) single nucleotide variant Benign rs421262 GRCh38 Chromosome 14, 87934869: 87934869
49 GALC NM_000153.3(GALC): c.330C> T (p.Asp110=) single nucleotide variant Benign/Likely benign rs11552556 GRCh37 Chromosome 14, 88452945: 88452945
50 GALC NM_000153.3(GALC): c.330C> T (p.Asp110=) single nucleotide variant Benign/Likely benign rs11552556 GRCh38 Chromosome 14, 87986601: 87986601

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

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 extracellular space GO:0005615 9.63 ARSA CHIT1 PLA2G2A PLA2G6 PSAP SNCA
2 azurophil granule membrane GO:0035577 9.26 GAA PSAP
3 lysosomal lumen GO:0043202 9.26 ARSA GAA GALC PSAP
4 lysosome GO:0005764 9.1 ARSA CHIT1 GAA GALC PSAP SNCA

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 GALC PLA2G2A PLA2G6 PSAP
2 metabolic process GO:0008152 9.54 CHIT1 GAA GALC
3 cellular response to organic substance GO:0071310 9.46 CASP3 PSAP
4 neutrophil degranulation GO:0043312 9.46 ARSA CHIT1 GAA PSAP
5 sphingolipid metabolic process GO:0006665 9.43 GALC PSAP
6 phosphatidylcholine acyl-chain remodeling GO:0036151 9.4 PLA2G2A PLA2G6
7 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.32 PLA2G2A PLA2G6
8 lipid catabolic process GO:0016042 9.13 GALC PLA2G2A PLA2G6
9 glycosphingolipid metabolic process GO:0006687 8.8 ARSA GALC PSAP

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

# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.4 PLA2G2A PLA2G6
2 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.37 PLA2G2A PLA2G6
3 phospholipid binding GO:0005543 9.33 PLA2G2A PSAP SNCA
4 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.32 PLA2G2A PLA2G6
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 CHIT1 GAA
6 hydrolase activity GO:0016787 9.17 ARSA CASP3 CHIT1 GAA GALC PLA2G2A
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 CHIT1 GAA GALC

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
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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