GCL
MCID: KRB001
MIFTS: 83

Krabbe Disease (GCL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Krabbe Disease

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Krabbe leukodystrophy is a degenerative disorder that affects the nervous system. it is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (galc). this enzyme deficiency results in defective myelin, the covering that insulates many nerves. krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. krabbe disease usually begins before the age of 1 year (early-onset form). initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. as the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. affected infants also experience vision loss and intellectual disability. less commonly, onset can occur later in childhood, adolescence, or adulthood (late-onset form). krabbe disease is caused byĀ mutations in theĀ galc gene and is inherited in an autosomal recessive pattern. last updated: 7/27/2011

MalaCards: Krabbe Disease, also known as globoid cell leukodystrophy, is related to leukodystrophy and metachromatic leukodystrophy, and has symptoms including visual loss/blindness/amblyopia, fever/chilling and abnormal emg/electromyogram/electropmyography. An important gene associated with Krabbe Disease is GALC (galactosylceramidase), and among its related pathways are Sphingolipid metabolism and Acyl chain remodelling of PC. The compounds D-Galactose and glucosylceramide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related mouse phenotypes are renal/urinary system and skeleton.

Genetics Home Reference:22 Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.

NINDS:45 Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.

Wikipedia:66 Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,... more...

Description from OMIM:48 245200,611722

GeneReviews summary for krabbe

Aliases & Classifications for Krabbe Disease

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Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 32LifeMap Discoveryā„¢, 23GTR, 21GeneTests, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

50
krabbe disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

krabbe disease 9 10 66 20 44 22 45 48 11 46 50 32
globoid cell leukodystrophy 9 66 20 44 45 50 63
galc deficiency 66 20 44 22 50
galactocerebrosidase deficiency 20 44 50 63
galactosylceramide beta-galactosidase deficiency 9 44 23
globoid cell leukoencephalopathy 9 66 44
diffuse globoid body sclerosis 9 66 22
galactosylceramidase deficiency disease 66 22
galactosylcerebrosidase deficiency 66 22
galactosylceramidase deficiency 20 50
galactosylsphingosine lipidosis 66 22
galactosylceramide lipidosis 66 22
psychosine lipidosis 66 22
krabbe's disease 9 21
gcl 44 22
gld 44 22
late-onset globoid cell leukodystrophy 63
beta galactocerebrosidase deficiency 9
late-onset krabbe disease 66
krabbe's leukodystrophy 9
krabbe leukodystrophy 44


External Ids:

Disease Ontology9 DOID:10587
MeSH36 D007965
NCIt41 C61254
ICD10 via Orphanet27 E75.2
UMLS via Orphanet64 C0023521
SNOMED-CT via Orphanet60 192782005

Related Diseases for Krabbe Disease

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18GeneCards, 19GeneDecks
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Diseases in the Krabbe Disease family:

Adult Krabbe Disease

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.2GALC, PSAP
2metachromatic leukodystrophy30.6PSAP, GALC, ARSA
3sphingolipidosis30.1PSAP, GALC, ARSA
4lysosomal storage disease29.9GLB1, CHIT1, GALC, GAA, ARSA, PSAP
5multiple sclerosis29.9MBP, PLA2G4A, CHIT1, NOS2
6infantile krabbe disease10.7
7krabbe disease atypical due to saposin a deficiency10.4
8graft versus host disease10.3
9sly syndrome10.3
10aspartylglucosaminuria10.3
11obstructive hydrocephalus10.3
12fucosidosis10.3
13central nervous system disease10.3
14hydrocephalus10.3
15nervous system disease10.3
16late-infantile neuronal ceroid lipofuscinosis10.3
17tremor10.3
18spinocerebellar degeneration10.3
19neuronitis10.3
20neuropathy10.3
21peripheral neuropathy10.3
22late-infantile/juvenile krabbe disease10.3
23adult krabbe disease10.3
24congenital fiber-type disproportion10.2
25endotheliitis10.2
26cerebritis10.2
27krabbe disease, atypical10.2
28hematopoietic stem cell transplantation10.2
29congenital generalized lipodystrophy type 210.1
30gaucher disease type 110.0PSAP, CHIT1
31gangliosidosis10.0GALC, GLB1, PSAP
32gangliosidosis gm110.0ARSA, PSAP, GLB1
33gaucher's disease10.0PSAP, GALC, CHIT1, ARSA
34fabry disease10.0GAA, ARSA, PSAP, CHIT1
35mucopolysaccharidosis10.0GLB1, GAA, ARSA
36rett syndrome10.0
37adrenoleukodystrophy10.0
38conjunctivitis10.0
39motor neuron disease10.0
40neuronal ceroid lipofuscinosis10.0
41myoclonus10.0
42mucolipidosis10.0GLB1, PSAP
43metabolic syndrome x10.0GAA, MBP, ARSA, PRKAB1
44cerebrovascular disease9.9MBP, CHIT1, PLA2G6, PLA2G2A
45coronary artery disease9.9PLA2G6, PRKAB1, PLA2G2A, NOS2
46hyperglycemia9.9PLA2G4A, PRKAB1, NOS2, CASP3
47sepsis9.9PSAP, PLA2G6, PLA2G2A, NOS2
48schizophrenia9.9PLA2G2A, MBP, PLA2G4A, PLA2G6, ARSA
49colon cancer9.8PLA2G4A, CASP3, PRKAB1, GAA, PLA2G2A, NOS2
50asthma9.8CHIT1, PLA2G4A, PLA2G2A, NOS2, PLA2G6, MBP

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



Diseases related to krabbe disease

Symptoms for Krabbe Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

245200

Clinical features from OMIM:

245200,611722

Symptoms:

50 (show all 24)
  • visual loss/blindness/amblyopia
  • fever/chilling
  • abnormal emg/electromyogram/electropmyography
  • thumb anomalies (excluding hypoplasia)
  • peripheral neuropathy
  • sensitive trouble/deficit
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • absent/hypotonic/flaccid abdominal wall muscles
  • sensorineural deafness/hearing loss
  • metabolic anomalies
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychic/psychomotor regression/dementia/intellectual decline
  • hearing loss/hypoacusia/deafness
  • psychic/behavioural troubles
  • repeat respiratory infections
  • autosomal recessive inheritance

Drugs & Therapeutics for Krabbe Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Krabbe Disease

Drug clinical trials:

Search ClinicalTrials for Krabbe Disease

Search NIH Clinical Center for Krabbe Disease

Search CenterWatch for Krabbe Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Krabbe Disease cell therapies at LifeMap Discovery.

Genetic Tests for Krabbe Disease

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21GeneTests, 23GTR
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Genetic tests related to Krabbe Disease:

id Genetic test Affiliating Genes
1 Krabbe Disease21 GALC
2 Galactosylceramide Beta-Galactosidase Deficiency23

Anatomical Context for Krabbe Disease

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34MalaCards
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MalaCards organs/tissues related to Krabbe Disease:

34
Brain, Bone, Eye, Skin, Testes, Spinal cord, Kidney

Animal Models for Krabbe Disease or affiliated genes

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38MGI
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Publications for Krabbe Disease

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53PubMed
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Articles related to Krabbe Disease:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype. (24262341)
2014
2
Neuronal inclusions of I+-synuclein contribute to the pathogenesis of Krabbe disease. (24415155)
2014
3
Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? (24388568)
2013
4
Novel diffusion tensor imaging findings in Krabbe disease. (24149099)
2013
5
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. (22274816)
2013
6
A high-throughput screening assay using Krabbe disease patient cells. (23138179)
2013
7
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. (23319190)
2012
8
Krabbe disease: the importance of early diagnosis for prognosis. (23052461)
2012
9
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
10
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease. (21373782)
2011
11
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. (21479982)
2011
12
Predominant corticospinal tract involvement in early-onset Krabbe disease. (21215920)
2011
13
Weighing the evidence for newborn screening for early-infantile Krabbe disease. (20601893)
2010
14
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). (20839990)
2010
15
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
16
Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study. (19141067)
2009
17
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. (19185028)
2009
18
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. (20446225)
2009
19
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. (18248608)
2008
20
Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. (18246117)
2008
21
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. (18077684)
2007
22
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
23
Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. (16876017)
2006
24
Krabbe disease: unusual MRI findings. (16247616)
2006
25
Krabbe disease--a case report. (16498763)
2005
26
Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. (15987975)
2005
27
Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease. (15685691)
2005
28
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. (16042308)
2005
29
Familial infantile globoid cell leukodystrophy (Krabbes disease). (15123879)
2004
30
Adult onset Krabbe disease may mimic motor neurone disease. (12948479)
2003
31
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). (11461188)
2001
32
Murine, canine and non-human primate models of Krabbe disease. (11074371)
2000
33
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. (10448809)
1999
34
MRI nerve root enhancement in Krabbe disease. (9744639)
1998
35
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. (9371928)
1997
36
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). (8723112)
1996
37
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. (8297359)
1994
38
Serial MRI and CT findings in infantile Krabbe disease. (1476576)
1992
39
MRI and CT findings in Krabbe disease. (1930420)
1991
40
Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. (1654028)
1991
41
Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids. (2079710)
1990
42
Krabbe disease locus mapped to chromosome 14 by genetic linkage. (1971996)
1990
43
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi. (2606482)
1989
44
Krabbe disease: specific MRI and CT findings. (3941765)
1986
45
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. (2907603)
1986
46
Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease. (6850275)
1983
47
The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). (7437911)
1980
48
Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme. (507819)
1979
49
Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids. (937104)
1976
50
Remarks on the Sturge-Kalischer-Weber-Dimitri-Krabbe disease. (13301888)
1955

Variations for Krabbe Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Krabbe Disease:

65 (show all 45)
id Symbol AA change Variation ID SNP ID
1GALCp.Gly111AspVAR_003380
2GALCp.Gly111SerVAR_003381
3GALCp.Thr112AlaVAR_003382
4GALCp.Met117LeuVAR_003383
5GALCp.Asp187ValVAR_003384
6GALCp.Gly194AlaVAR_003385
7GALCp.Ile250ThrVAR_003387
8GALCp.Ala263ThrVAR_003388
9GALCp.Gly284SerVAR_003389
10GALCp.Gly286AspVAR_003390
11GALCp.Asn295ThrVAR_003391
12GALCp.Ser303PheVAR_003392
13GALCp.Pro318AlaVAR_003393
14GALCp.Arg396TrpVAR_003394
15GALCp.Pro400LeuVAR_003395
16GALCp.Thr468SerVAR_003396rs34134328
17GALCp.Phe514SerVAR_003397
18GALCp.Thr529MetVAR_003398
19GALCp.Arg531CysVAR_003399
20GALCp.Asp544AsnVAR_003400
21GALCp.Val566GlyVAR_003402
22GALCp.Tyr567SerVAR_003403
23GALCp.Ala592SerVAR_003404
24GALCp.Ile599SerVAR_003405
25GALCp.Leu645ArgVAR_003407
26GALCp.Gly59ArgVAR_013956
27GALCp.Ser68PheVAR_013957
28GALCp.Arg79HisVAR_013958
29GALCp.Ile82MetVAR_013959
30GALCp.Thr278IleVAR_013961
31GALCp.Tyr314CysVAR_013963
32GALCp.Tyr335CysVAR_013964
33GALCp.Trp426GlyVAR_013965
34GALCp.Arg531HisVAR_013966
35GALCp.Gly553ArgVAR_013967
36GALCp.Leu634SerVAR_013968
37GALCp.Thr668ArgVAR_013969
38GALCp.Gly41SerVAR_064431
39GALCp.Glu130LysVAR_064432
40GALCp.Pro318ArgVAR_064433
41GALCp.Gly323ArgVAR_064434
42GALCp.Ile384ThrVAR_064435
43GALCp.Arg396LeuVAR_064436
44GALCp.Tyr490AsnVAR_064437
45GALCp.Val681MetVAR_069512

Clinvar genetic disease variations for Krabbe Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1GALCNM_000153.3(GALC): c.1630G> A (p.Asp544Asn)single nucleotide variantPathogenicrs387906952GRCh37Chr 14, 88411937: 88411937
2GALCNM_000153.3(GALC): c.1796T> G (p.Ile599Ser)single nucleotide variantPathogenicrs387906953GRCh37Chr 14, 88407777: 88407777
3GALCGALC, GLY553ARGsingle nucleotide variantPathogenic
4GALCGALC, IVS13DS, G-A, +1single nucleotide variantPathogenic
5GALCGALC, 1-BP DEL, 1901TdeletionPathogenic
6GALCNM_000153.3(GALC): c.857G> A (p.Gly286Asp)single nucleotide variantPathogenicrs199847983GRCh37Chr 14, 88434730: 88434730
7GALCNM_000153.3(GALC): c.953C> G (p.Pro318Arg)single nucleotide variantPathogenicrs387906954GRCh37Chr 14, 88431929: 88431929
8GALCNM_000153.3(GALC): c.121G> A (p.Gly41Ser)single nucleotide variantPathogenicrs387906955GRCh37Chr 14, 88459388: 88459388
9GALCNM_000153.3(GALC): c.1153G> T (p.Glu385Ter)single nucleotide variantPathogenicrs121908010GRCh37Chr 14, 88429736: 88429736
10GALCGALC, 30-KB DEL, IVS10deletionPathogenic

Expression for genes affiliated with Krabbe Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Krabbe Disease

Search GEO for disease gene expression data for Krabbe Disease.

Pathways for genes affiliated with Krabbe Disease

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 61Thomson Reuters
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Compounds for genes affiliated with Krabbe Disease

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Sources:
25HMDB, 46Novoseek, 3BitterDB, 62Tocris Bioscience, 12DrugBank, 30IUPHAR
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Compounds related to Krabbe Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 1918)
idCompoundScoreTop Affiliating Genes
1D-Galactose259.9GLB1, GALC, GAA
2glucosylceramide46 2510.7CHIT1, PSAP, GLB1, GALC
3mannose 6-phosphate46 2510.6GALC, PSAP, GAA, ARSA
4scalaradial469.6PLA2G6, PLA2G4A, PLA2G2A
5manoalide469.6PLA2G6, PLA2G4A, PLA2G2A
6p-bromophenacyl bromide469.6PLA2G4A, PLA2G6, PLA2G2A
7bromoenol lactone469.6PLA2G6, PLA2G4A, PLA2G2A
8melittin469.5PLA2G2A, PLA2G4A, PLA2G6
9aacocf3469.5PLA2G4A, PLA2G6, PLA2G2A
10lysophospholipid469.5PLA2G2A, PLA2G4A, PLA2G6
11aristolochic acid46 310.5PLA2G2A, PLA2G4A, PLA2G6
12LysoPC(O-18:0)259.4PLA2G4A, PLA2G6, PLA2G2A
13LysoPC(22:1(13Z))259.4PLA2G2A, PLA2G4A, PLA2G6
14LysoPC(22:0)259.4PLA2G6, PLA2G4A, PLA2G2A
15LysoPC(18:1(11Z))259.3PLA2G4A, PLA2G6, PLA2G2A
16LysoPC(22:2(13Z,16Z))259.3PLA2G2A, PLA2G4A, PLA2G6
17staurosporin469.3PLA2G4A, CASP3, PLA2G2A
18galactosylceramide469.3MBP, PSAP, GALC, ARSA
19LysoPC(20:5(5Z,8Z,11Z,14Z,17Z))259.3PLA2G6, PLA2G4A, PLA2G2A
203-O-Sulfogalactosylceramide (d18:1/24:0)259.2PSAP, MBP, ARSA, GALC
21LysoPC(16:1(9Z))259.2PLA2G6, PLA2G4A, PLA2G2A
22mafp469.2NOS2, PLA2G2A, PLA2G6, PLA2G4A
23LysoPC(16:0)259.2PLA2G6, PLA2G4A, PLA2G2A
24LysoPC(20:4(8Z,11Z,14Z,17Z))259.2PLA2G6, PLA2G4A, PLA2G2A
25sulfatide469.2PSAP, GLB1, MBP, ARSA
26ganglioside469.1MBP, PSAP, GLB1, ARSA
27LysoPC(15:0)259.1PLA2G6, PLA2G4A, PLA2G2A
28c2ceramide469.0CASP3, PLA2G2A, NOS2, PLA2G4A
29palmitate468.9PRKAB1, PLA2G6, PLA2G2A, PLA2G4A
30ceramide468.9ARSA, PLA2G2A, CASP3, PSAP, PLA2G4A
31LysoPC(18:0)258.9PLA2G2A, PLA2G4A, PLA2G6
32gf 109203x46 629.6MBP, PLA2G2A, PLA2G6, PLA2G4A
33choline46 25 1210.5PLA2G2A, PLA2G4A, PLA2G6, PSAP, MBP
34fatty acid468.5GAA, PRKAB1, PLA2G6, PLA2G4A, PLA2G2A, GALC
35ly294002468.4PLA2G2A, PLA2G4A, PRKAB1, NOS2, CASP3
36actinomycin d468.4PLA2G6, PLA2G4A, PLA2G2A, CASP3, NOS2
37phospholipid468.4PLA2G4A, PSAP, PLA2G6, PLA2G2A, MBP
38sb 20358046 629.3CASP3, PLA2G4A, PLA2G6, PRKAB1, NOS2
39indomethacin46 30 62 1211.3PLA2G4A, PLA2G6, NOS2, PLA2G2A, MBP
40Water258.1CHIT1, GAA, PLA2G6, ARSA, PLA2G4A, PLA2G2A
41genistein46 30 62 3 25 1213.0PLA2G6, NOS2, CASP3, PLA2G2A, PLA2G4A, PRKAB1
42lactate468.0MBP, PRKAB1, PLA2G2A, CASP3, GAA, ARSA
43phosphatidylserine46 30 129.9MBP, PLA2G2A, PLA2G6, PSAP, CASP3, PLA2G4A
44arginine467.8MBP, PLA2G4A, NOS2, GAA, PLA2G2A, PSAP
45n acetylcysteine467.7PLA2G2A, PRKAB1, NOS2, MBP, CASP3, PLA2G4A
46cycloheximide467.7CASP3, PLA2G4A, PLA2G6, NOS2, MBP, PLA2G2A
47cysteine467.5MBP, ARSA, CASP3, PSAP, PLA2G6, PLA2G4A
48h2o2467.2PRKAB1, NOS2, CASP3, PLA2G2A, PLA2G4A, PLA2G6
49serine467.0PLA2G2A, MBP, CASP3, PLA2G6, PSAP, PLA2G4A
50lipid466.8MBP, ARSA, GALC, PLA2G2A, PLA2G4A, PLA2G6

GO Terms for genes affiliated with Krabbe Disease

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17Gene Ontology
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Cellular components related to Krabbe Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3ARSA, GAA, GALC, CHIT1
2lysosomal lumenGO:0432029.0ARSA, GALC, GLB1, PSAP

Biological processes related to Krabbe Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:0066879.3PSAP, GLB1, GALC, ARSA
2sphingolipid metabolic processGO:0066659.3ARSA, PSAP, GLB1, GALC
3phosphatidylcholine acyl-chain remodelingGO:0361519.2PLA2G4A, PLA2G2A, PLA2G6
4phosphatidylethanolamine acyl-chain remodelingGO:0361529.1PLA2G6, PLA2G4A, PLA2G2A
5small molecule metabolic processGO:0442817.7PLA2G2A, PLA2G4A, PLA2G6, GLB1, GALC, ARSA

Molecular functions related to Krabbe Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipase A2 activityGO:0046239.2PLA2G2A, PLA2G4A, PLA2G6

Products for genes affiliated with Krabbe Disease

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  • Antibodies
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Sources for Krabbe Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet