GCL
MCID: KRB001
MIFTS: 71

Krabbe Disease (GCL) malady

Neuronal, Eye, Metabolic categories

Summaries for Krabbe Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 by mutations in the 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 metachromatic leukodystrophy and gaucher's disease, and has symptoms including visual loss/blindness/amblyopia, hearing loss/hypoacusia/deafness and sensorineural deafness/hearing loss. An important gene associated with Krabbe Disease is GALC (galactosylceramidase), and among its related pathways are Eicosanoid Synthesis and Acyl chain remodeling of CL. The compounds cycloheximide and lysoplasmenylcholine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, brain and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Genetics Home Reference:21 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:44 Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.

Wikipedia:64 Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,... more...

Description from OMIM:47 245200,611722

GeneReviews summary for krabbe

Aliases & Classifications for Krabbe Disease

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
krabbe disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

krabbe disease 8 9 64 19 21 44 47 10 45 49 31
globoid cell leukodystrophy 8 64 19 44 49 61
galc deficiency 64 19 43 21 49
galactocerebrosidase deficiency 19 43 49 61
galactosylceramide beta-galactosidase deficiency 8 43 22
diffuse globoid body sclerosis 8 64 21
galactosylceramidase deficiency disease 64 21
galactosylcerebrosidase deficiency 64 21
globoid cell leukoencephalopathy 8 64
galactosylsphingosine lipidosis 64 21
galactosylceramidase deficiency 19 49
galactosylceramide lipidosis 64 21
psychosine lipidosis 64 21
krabbe's disease 8 20
gld 43 21
gcl 43 21
late-onset globoid cell leukodystrophy 61
beta galactocerebrosidase deficiency 8
late-onset krabbe disease 64
krabbe's leukodystrophy 8
krabbe leukodystrophy 43


External Ids:

Disease Ontology8 DOID:10587
MeSH35 D007965
NCIt40 C61254
ICD10 via Orphanet26 E75.2

Related Diseases for Krabbe Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 94)
idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy30.5HEXA, PSAP, GALC, ARSA
2gaucher's disease30.4PSAP, GAA, CHIT1
3sphingolipidosis30.0PSAP, GALC, ARSA
4infantile krabbe disease10.8
5adult krabbe disease10.6
6t cell deficiency10.6
7brain disease10.4
8krabbe disease atypical due to saposin a deficiency10.4
9lip disease10.4
10krabbe disease, atypical10.3
11late-infantile/juvenile krabbe disease10.3
12graft versus host disease10.3
13fucosidosis10.3
14aspartylglucosaminuria10.3
15obstructive hydrocephalus10.3
16b cell deficiency10.3
17wallerian degeneration10.3
18late-infantile neuronal ceroid lipofuscinosis10.3
19spinal cord injury10.3
20tremor10.3
21spinocerebellar degeneration10.3
22hematopoietic stem cell transplantation10.2
23congenital fiber-type disproportion10.2
24rett syndrome10.1
25adrenoleukodystrophy10.1
26n syndrome10.1
27spinal cord disease10.1
28sweat gland disease10.1
29infantile neuronal ceroid lipofuscinosis10.1
30myoclonus10.1
31congenital generalized lipodystrophy type 210.0
32germ cell cancer10.0
33neuropathy10.0MBP
34glaucoma10.0MBP
35cerebral lipidosis10.0ARSA
36wilson disease10.0ARSA
37peritonitis10.0PLA2G6
38synovitis10.0PLA2G2A
39leukodystrophy10.0GALC, PSAP
40spinal cord ischemia10.0PLA2G2A
41meningioma10.0PLA2G6
42farber lipogranulomatosis10.0PSAP
43rhinitis10.0PLA2G2A
44gaucher disease type 110.0PSAP, CHIT1
45niemann–pick disease10.0CHIT1, PSAP
46fibrosarcoma10.0GLB1
47myeloid leukemia10.0CASP3
48acute pancreatitis10.0PLA2G2A, PLA2G6
49tay-sachs disease10.0PSAP, HEXA
50pantothenate kinase-associated neurodegeneration10.0PLA2G6

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



Diseases related to krabbe disease

Clinical Features for Krabbe Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

245200,611722

Clinical synopsis from OMIM:

245200

Symptoms:

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

Drugs & Therapeutics for Krabbe Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Krabbe Disease:

id Genetic test Affiliating Genes
1 Krabbe Disease20 GALC
2 Galactosylceramide Beta-galactosidase Deficiency22

Anatomical Context for Krabbe Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Krabbe Disease:

33
Bone marrow, Brain, Spinal cord, Kidney, Skin, Fetal brain

Animal Models for Krabbe Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Krabbe Disease

Sources:
51PubMed
See all sources

Articles related to Krabbe Disease:

(show top 50)    (show all 204)
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
Novel diffusion tensor imaging findings in Krabbe disease. (24149099)
2013
4
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. (22274816)
2013
5
A high-throughput screening assay using Krabbe disease patient cells. (23138179)
2013
6
Stem cell transplantation for adult-onset krabbe disease: report of a case. (23430802)
2013
7
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. (23620143)
2013
8
Four novel GALC gene mutations in two Chinese patients with Krabbe disease. (23462331)
2013
9
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy. (23622382)
2013
10
Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. (22959700)
2013
11
Krabbe disease: the importance of early diagnosis for prognosis. (23052461)
2012
12
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. (22115770)
2012
13
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. (21479982)
2011
14
Normal neuroimaging in early-onset Krabbe disease. (21481747)
2011
15
Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease. (22153408)
2011
16
Unilateral white matter involvement in Krabbe disease. (21220686)
2011
17
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease. (21049202)
2010
18
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
19
Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. (18438656)
2008
20
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. (16607461)
2006
21
Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. (16864808)
2006
22
Neurophysiologic studies in Krabbe disease. (16893123)
2006
23
Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. (16394159)
2005
24
Late-onset Krabbe's disease mimicking acute disseminated encephalomyelitis. (16139737)
2005
25
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. (16435193)
2005
26
Adult onset Krabbe disease may mimic motor neurone disease. (12948479)
2003
27
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. (11814461)
2002
28
Krabbe disease: genetic aspects and progress toward therapy. (10833326)
2000
29
Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. (10752900)
2000
30
MR imaging and proton MR spectroscopy in adult Krabbe disease. (11003282)
2000
31
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. (10448809)
1999
32
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). (10090061)
1998
33
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. (9192853)
1997
34
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. (9266397)
1997
35
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. (8687180)
1996
36
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. (7572154)
1995
37
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. (8634707)
1995
38
Molecular defects in Krabbe disease. (8595408)
1995
39
Deceptively normal MR in early infantile Krabbe disease. (8141050)
1994
40
Infantile Krabbe disease: complementary CT and MR findings. (8237697)
1993
41
Auditory evoked responses in Krabbe disease. (8292214)
1993
42
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. (8311994)
1993
43
MRI and CT findings in Krabbe disease. (1930420)
1991
44
Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. (1654028)
1991
45
Palatal myoclonus in Krabbe disease. (1785660)
1991
46
Galactosylceramide- and lactosylceramide-loading studies in cultured fibroblasts from normal individuals and patients with globoid cell leukodystrophy (Krabbe's disease) and GM1-gangliosidosis. (3926002)
1985
47
Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. (6811701)
1982
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
Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination. (4728185)
1973

Genetic Variations for Krabbe Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Krabbe Disease:

63 (show all 45)
id Symbol AA change Variation 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

Expression for genes affiliated with Krabbe Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 50PharmGKB
See all sources

Pathways related to Krabbe Disease according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PLA2G2A, PLA2G6
29.8PLA2G4A, PLA2G6
39.7GLB1, HEXA
49.7GLB1, HEXA
5
Hide members
9.7HEXA, GLB1
6
Hide members
9.5PLA2G2A, PLA2G4A, PLA2G6
7
Hide members
9.5PLA2G2A, PLA2G4A, PLA2G6
8
Hide members
9.5PLA2G2A, PLA2G4A, PLA2G6
99.5PLA2G2A, PLA2G4A, PLA2G6
10
Hide members
9.5PLA2G6, PLA2G4A, PLA2G2A
119.3GAA, PLA2G4A, NOS2
129.3CASP3, PLA2G4A, PLA2G2A
139.1NOS2, PLA2G4A, CASP3
14
Hide members
9.0PLA2G2A, PLA2G4A, PLA2G6, CASP3
15
Hide members
9.0HEXA, PSAP, GALC, ARSA, GLB1
16
Hide members
8.7HEXA, PSAP, GALC, GAA, ARSA, GLB1
178.7GLB1, ARSA, GAA, GALC, PSAP, HEXA
188.3CASP3, MBP, PLA2G6, PLA2G2A, NOS2

Compounds for genes affiliated with Krabbe Disease

Sources:
45Novoseek, 2BitterDB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Krabbe Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.5PLA2G6
2lysoplasmenylcholine4510.1PLA2G2A, PLA2G6
3ly3117274510.1PLA2G4A, PLA2G2A
4scalaradial4510.0PLA2G6, PLA2G4A, PLA2G2A
5manoalide459.9PLA2G4A, PLA2G6, PLA2G2A
6p-bromophenacyl bromide459.9PLA2G6, PLA2G4A, PLA2G2A
7bromoenol lactone459.9PLA2G6, PLA2G4A, PLA2G2A
8melittin459.9PLA2G2A, PLA2G4A, PLA2G6
9mj 33459.9PLA2G6, PLA2G2A
10lysophospholipid459.9PLA2G6, PLA2G4A, PLA2G2A
11aacocf3459.9PLA2G2A, PLA2G6, PLA2G4A
12aristolochic acid45 210.9PLA2G2A, PLA2G6, PLA2G4A
13alpha-linolenic acid45 11 2411.8PLA2G6, PLA2G2A, PLA2G4A
14glucosylceramide45 2410.7CHIT1, GALC, GLB1, PSAP
154-methylumbelliferyl-beta-d-glucoside459.7GALC, PSAP
16quinacrine45 1110.7PLA2G6, PLA2G4A, PLA2G2A
17m-3m3fbs609.7PLA2G4A, PLA2G6, PLA2G2A
18cerebroside459.7HEXA, MBP, ARSA
19d609609.6PLA2G2A, PLA2G4A, PLA2G6
20psychosine459.6GPR65, PSAP, GALC
21staurosporin459.6CASP3, PLA2G2A, PLA2G4A
22fipi609.6PLA2G2A, PLA2G4A, PLA2G6
23galactosylceramide459.6GALC, PSAP, MBP, ARSA
24u 73343609.5PLA2G6, PLA2G4A, PLA2G2A
25mafp459.5PLA2G4A, PLA2G6, PLA2G2A, NOS2
26mannose 6-phosphate45 2410.5GALC, GAA, ARSA, HEXA, PSAP
27sulfatide459.4MBP, PSAP, ARSA, GLB1
28palmitate459.3PLA2G4A, PLA2G2A, PLA2G6, PRKAB1
29c2ceramide459.2CASP3, PLA2G4A, PLA2G2A, NOS2
30mannose459.2HEXA, GAA, ARSA, CHIT1
31ceramide459.2PLA2G2A, PLA2G4A, PSAP, CASP3, ARSA
32gf 109203x45 6010.2PLA2G2A, MBP, PLA2G6, PLA2G4A
33lysophosphatidylcholine45 2910.1PLA2G4A, PLA2G6, PLA2G2A, GPR65
34ly294002459.1PLA2G2A, PLA2G4A, PRKAB1, NOS2
35choline45 11 2411.1MBP, PSAP, PLA2G6, PLA2G4A, PLA2G2A
36ganglioside459.0MBP, HEXA, PSAP, ARSA, GLB1
37phospholipid458.9PLA2G2A, MBP, PSAP, PLA2G6, PLA2G4A
38serine458.9PLA2G2A, PLA2G4A, PLA2G6, PSAP, ARSA, PRKAB1
39fatty acid458.8PRKAB1, PLA2G2A, GALC, PLA2G6, PLA2G4A, GAA
40indomethacin45 60 29 1111.8PLA2G4A, NOS2, PLA2G2A, MBP, PLA2G6
41actinomycin d458.7NOS2, PLA2G4A, PLA2G6, CASP3, PLA2G2A
42sb 20358045 609.6NOS2, PLA2G6, PLA2G4A, CASP3, PRKAB1
43phosphatidylserine45 29 1110.6PLA2G4A, PLA2G2A, CASP3, MBP, PSAP, PLA2G6
44genistein45 29 60 2 11 2413.4PRKAB1, PLA2G6, PLA2G4A, NOS2, PLA2G2A, CASP3
45lactate458.3MBP, CASP3, ARSA, GAA, PRKAB1, PLA2G2A
46arginine458.3MBP, PSAP, GAA, NOS2, PLA2G6, PLA2G4A
47cysteine458.2PLA2G6, PLA2G4A, PLA2G2A, ARSA, MBP, CASP3
48n acetylcysteine458.1CASP3, MBP, PRKAB1, PLA2G4A, PLA2G2A, NOS2
49h2o2457.8CASP3, MBP, PRKAB1, PLA2G6, PLA2G4A, PLA2G2A
50lipid457.2GALC, PSAP, GAA, ARSA, PRKAB1, CHIT1

GO Terms for genes affiliated with Krabbe Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Krabbe Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.4CHIT1, ARSA, GAA, GALC
2lysosomal lumenGO:0432028.7GLB1, ARSA, GALC, PSAP, HEXA

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cardiolipin acyl-chain remodelingGO:03596510.0PLA2G4A, PLA2G6
2neuromuscular process controlling postureGO:05088410.0GAA, HEXA
3phosphatidylinositol acyl-chain remodelingGO:0361499.9PLA2G4A, PLA2G2A
4phosphatidylserine acyl-chain remodelingGO:0361509.9PLA2G4A, PLA2G2A
5keratan sulfate catabolic processGO:0423409.9GLB1, HEXA
6phosphatidylglycerol acyl-chain remodelingGO:0361489.8PLA2G4A, PLA2G2A
7phosphatidylethanolamine acyl-chain remodelingGO:0361529.8PLA2G2A, PLA2G4A, PLA2G6
8phosphatidylcholine acyl-chain remodelingGO:0361519.8PLA2G6, PLA2G4A, PLA2G2A
9positive regulation of vasodilationGO:0459099.7NOS2, PLA2G6
10glycerophospholipid biosynthetic processGO:0464749.7PLA2G6, PLA2G4A, PLA2G2A
11response to bacteriumGO:0096179.7CHIT1, NOS2
12glycosphingolipid metabolic processGO:0066879.3GLB1, ARSA, GALC, PSAP, HEXA
13sphingolipid metabolic processGO:0066659.3HEXA, PSAP, GALC, ARSA, GLB1
14phospholipid metabolic processGO:0066449.2PLA2G2A, PLA2G4A, PLA2G6
15small molecule metabolic processGO:0442818.3HEXA, PSAP, GALC, ARSA, GLB1, PLA2G6

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

idNameGO IDScoreTop Affiliating Genes
1phospholipase A2 activityGO:0046239.5PLA2G2A, PLA2G4A, PLA2G6

Products for genes affiliated with Krabbe Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Krabbe Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet