GCL
MCID: KRB001
MIFTS: 83

Krabbe Disease (GCL) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Krabbe Disease

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Sources:
42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 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 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 brain, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

NINDS:43 Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.

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.

Wikipedia:63 Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,... more...

Description from OMIM:46 245200,611722

GeneReviews summary for krabbe

Aliases & Classifications for Krabbe Disease

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
krabbe disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

krabbe disease 8 9 63 19 21 43 46 10 44 48 30
globoid cell leukodystrophy 8 63 19 43 48 60
galc deficiency 63 19 42 21 48
galactocerebrosidase deficiency 19 42 48 60
galactosylceramide beta-galactosidase deficiency 8 42 22
diffuse globoid body sclerosis 8 63 21
galactosylceramidase deficiency disease 63 21
galactosylcerebrosidase deficiency 63 21
globoid cell leukoencephalopathy 8 63
galactosylsphingosine lipidosis 63 21
galactosylceramidase deficiency 19 48
galactosylceramide lipidosis 63 21
psychosine lipidosis 63 21
krabbe's disease 8 20
gld 42 21
gcl 42 21
late-onset globoid cell leukodystrophy 60
beta galactocerebrosidase deficiency 8
late-onset krabbe disease 63
krabbe's leukodystrophy 8
krabbe leukodystrophy 42


External Ids:

Disease Ontology8 DOID:10587
MeSH34 D007965
NCIt39 C61254
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 192782005

Related Diseases for Krabbe Disease

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Sources:
17GeneCards, 18GeneDecks
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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 101)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.0GALC, PSAP
2metachromatic leukodystrophy30.4HEXA, PSAP, GALC, ARSA
3neuropathy30.3MBP
4sphingolipidosis30.0PSAP, GALC, ARSA
5motor neuron disease30.0HEXA, GAA
6multiple sclerosis29.9MBP, CHIT1, PLA2G4A, NOS2
7lysosomal storage disease29.9HEXA, PSAP, GALC, GAA, ARSA, CHIT1
8brain disease10.4
9optic nerve disease10.4
10krabbe disease atypical due to saposin a deficiency10.3
11infantile krabbe disease10.3
12graft versus host disease10.2
13fucosidosis10.2
14sly syndrome10.2
15aspartylglucosaminuria10.2
16obstructive hydrocephalus10.2
17hydrocephalus10.2
18late-infantile neuronal ceroid lipofuscinosis10.2
19neuronitis10.2
20peripheral neuropathy10.2
21late-infantile/juvenile krabbe disease10.2
22spinocerebellar degeneration10.2
23congenital fiber-type disproportion10.2
24cerebritis10.1
25chromosomal disease10.1
26cranial nerve disease10.1
27nervous system disease10.1
28neurologic diseases10.1
29krabbe disease, atypical10.1
30adult krabbe disease10.1
31congenital generalized lipodystrophy type 210.0
32rett syndrome10.0
33adrenoleukodystrophy10.0
34central nervous system disease10.0
35cerebral degeneration10.0
36conjunctivitis10.0
37kidney disease10.0
38leukocyte disease10.0
39neuronal ceroid lipofuscinosis10.0
40peripheral nervous system disease10.0
41skin disease10.0
42spinal cord disease10.0
43sweat gland disease10.0
44glaucoma10.0MBP
45cerebral lipidosis10.0ARSA
46wilson disease10.0ARSA
47peritonitis10.0PLA2G6
48synovitis10.0PLA2G2A
49spinal cord ischemia10.0PLA2G2A
50meningioma10.0PLA2G6

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



Diseases related to krabbe disease

Clinical Features for Krabbe Disease

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46OMIM, 48Orphanet
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Clinical features from OMIM:

245200,611722

Clinical synopsis from OMIM:

245200

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Krabbe Disease:

32
Brain, Bone, Eye, Testes, Skin, Spinal cord, Kidney

Animal Models for Krabbe Disease or affiliated genes

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Sources:
36MGI
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Publications for Krabbe Disease

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50PubMed
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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
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
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. (23620143)
2013
7
Structural snapshots illustrate the catalytic cycle of I^-galactocerebrosidase, the defective enzyme in Krabbe disease. (24297913)
2013
8
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. (23276707)
2013
9
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. (23419961)
2013
10
Krabbe disease: the importance of early diagnosis for prognosis. (23052461)
2012
11
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. (22704718)
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
Later onset phenotypes of Krabbe disease: results of the world-wide registry. (22520351)
2012
14
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. (22991292)
2012
15
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. (22150413)
2012
16
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. (21479982)
2011
17
Insights into Krabbe disease from structures of galactocerebrosidase. (21876145)
2011
18
Selective corticospinal tract involvement in late-onset Krabbe disease. (21768595)
2011
19
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
20
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. (19386732)
2009
21
Krabbe disease: an overview. (20040316)
2009
22
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. (16607461)
2006
23
Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. (16864808)
2006
24
Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. (16864820)
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
Adult onset Krabbe disease may mimic motor neurone disease. (12948479)
2003
28
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. (11814461)
2002
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
Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing. (10913522)
2000
31
Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves. (9595850)
1997
32
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. (7572154)
1995
33
Krabbe disease (globoid cell leukodystrophy)]. (8577041)
1995
34
Pathological and biochemical studies of fetal Krabbe disease. (7695000)
1994
35
Infantile Krabbe disease: complementary CT and MR findings. (8237697)
1993
36
Auditory evoked responses in Krabbe disease. (8292214)
1993
37
MRI and CT findings in Krabbe disease. (1930420)
1991
38
Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. (1654028)
1991
39
Palatal myoclonus in Krabbe disease. (1785660)
1991
40
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi. (2606482)
1989
41
Detection of Krabbe disease using tritiated galactosylceramides with medium-chain fatty acids. (3681116)
1987
42
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. (2907603)
1986
43
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. (3895053)
1985
44
Computed tomography and magnetic resonance imaging in late-onset globoid cell leukodystrophy (Krabbe disease). (3880410)
1985
45
Use of mixed dispersion of fluorescent galactosylceramide and sodium dodecylsulfate for assaying galactosylceramide-beta-galactosidase and diagnosing Krabbe disease. (4054076)
1985
46
Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. (6811701)
1982
47
Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease . (7094344)
1982
48
The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease. (7151275)
1982
49
Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme. (507819)
1979
50
Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids. (937104)
1976

Genetic Variations for Krabbe Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Krabbe Disease:

62 (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

Expression for genes affiliated with Krabbe Disease

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Sources:
1BioGPS, 15Gene 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:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 49PharmGKB
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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

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Sources:
44Novoseek, 2BitterDB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Krabbe Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.5PLA2G6
2lysoplasmenylcholine4410.1PLA2G2A, PLA2G6
3ly3117274410.1PLA2G4A, PLA2G2A
4scalaradial4410.0PLA2G6, PLA2G4A, PLA2G2A
5manoalide449.9PLA2G4A, PLA2G6, PLA2G2A
6p-bromophenacyl bromide449.9PLA2G6, PLA2G4A, PLA2G2A
7bromoenol lactone449.9PLA2G6, PLA2G4A, PLA2G2A
8melittin449.9PLA2G2A, PLA2G4A, PLA2G6
9lysophospholipid449.9PLA2G6, PLA2G4A, PLA2G2A
10aacocf3449.9PLA2G2A, PLA2G6, PLA2G4A
11aristolochic acid44 210.9PLA2G2A, PLA2G6, PLA2G4A
12alpha-linolenic acid44 11 2411.8PLA2G6, PLA2G2A, PLA2G4A
13glucosylceramide44 2410.7CHIT1, GALC, GLB1, PSAP
14quinacrine44 1110.7PLA2G6, PLA2G4A, PLA2G2A
15m-3m3fbs599.7PLA2G4A, PLA2G6, PLA2G2A
16cerebroside449.7HEXA, MBP, ARSA
17d609599.6PLA2G2A, PLA2G4A, PLA2G6
18psychosine449.6GPR65, PSAP, GALC
19staurosporin449.6CASP3, PLA2G2A, PLA2G4A
20mj 33449.6PLA2G6, PLA2G2A
21sulf449.6ARSA, MBP
22fipi599.6PLA2G2A, PLA2G4A, PLA2G6
23galactosylceramide449.6GALC, PSAP, MBP, ARSA
24u 73343599.5PLA2G6, PLA2G4A, PLA2G2A
25mafp449.5PLA2G4A, PLA2G6, PLA2G2A, NOS2
26mannose 6-phosphate44 2410.5GALC, GAA, ARSA, HEXA, PSAP
27sulfatide449.4MBP, PSAP, ARSA, GLB1
28palmitate449.3PLA2G4A, PLA2G2A, PLA2G6, PRKAB1
29c2ceramide449.2CASP3, PLA2G4A, PLA2G2A, NOS2
30mannose449.2CHIT1, HEXA, GAA, ARSA
31ceramide449.2PLA2G2A, PLA2G4A, PSAP, CASP3, ARSA
32gf 109203x44 5910.2PLA2G2A, PLA2G4A, MBP, PLA2G6
33lysophosphatidylcholine44 2810.1PLA2G4A, PLA2G6, PLA2G2A, GPR65
34ly294002449.1PLA2G2A, PLA2G4A, PRKAB1, NOS2
35choline44 11 2411.1MBP, PSAP, PLA2G6, PLA2G4A, PLA2G2A
36ganglioside449.0MBP, HEXA, PSAP, ARSA, GLB1
37phospholipid448.9PLA2G2A, MBP, PSAP, PLA2G6, PLA2G4A
38serine448.9PLA2G2A, PLA2G4A, PLA2G6, PSAP, ARSA, PRKAB1
39fatty acid448.8PRKAB1, PLA2G2A, GALC, PLA2G6, PLA2G4A, GAA
40indomethacin44 59 28 1111.8PLA2G4A, NOS2, PLA2G2A, MBP, PLA2G6
41actinomycin d448.7NOS2, PLA2G4A, PLA2G6, CASP3, PLA2G2A
42sb 20358044 599.6NOS2, PLA2G6, PLA2G4A, CASP3, PRKAB1
43phosphatidylserine44 28 1110.6PLA2G4A, PLA2G2A, CASP3, MBP, PSAP, PLA2G6
44genistein44 28 59 2 11 2413.4PRKAB1, PLA2G6, PLA2G4A, NOS2, PLA2G2A, CASP3
45lactate448.3MBP, CASP3, ARSA, GAA, PRKAB1, PLA2G2A
46arginine448.3MBP, PSAP, GAA, NOS2, PLA2G6, PLA2G4A
47cysteine448.2PLA2G6, PLA2G4A, PLA2G2A, ARSA, MBP, CASP3
48n acetylcysteine448.1CASP3, MBP, PRKAB1, PLA2G4A, PLA2G2A, NOS2
49h2o2447.8CASP3, MBP, PRKAB1, PLA2G6, PLA2G4A, PLA2G2A
50lipid447.2GALC, PSAP, GAA, ARSA, PRKAB1, CHIT1

GO Terms for genes affiliated with Krabbe Disease

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Krabbe Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet