GCL
MCID: KRB001
MIFTS: 84

Krabbe Disease (GCL) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories
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Summaries for Krabbe Disease

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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 based summary: Krabbe Disease, also known as globoid cell leukodystrophy, is related to leukodystrophy and metachromatic leukodystrophy, 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 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 bone, brain and eye, and related mouse phenotypes are renal/urinary system and skeleton.

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

Wikipedia:65 Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,... more...

Descriptions from OMIM:46 245200,611722

GeneReviews summary for krabbe

Aliases & Classifications for Krabbe Disease

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 20GeneTests, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Krabbe Disease, Aliases & Descriptions:

Name: Krabbe Disease 30 8 9 65 19 42 21 43 46 10 44 48
Globoid Cell Leukodystrophy 8 65 19 42 43 48 62
Galc Deficiency 65 19 42 21 48
Galactosylceramide Beta-Galactosidase Deficiency 8 42 22 62
Globoid Cell Leukoencephalopathy 8 65 42 62
Galactocerebrosidase Deficiency 19 42 48 62
Diffuse Globoid Body Sclerosis 8 65 21 62
Galactosylceramidase Deficiency Disease 65 21 62
Galactosylcerebrosidase Deficiency 65 21 62
Galactosylsphingosine Lipidosis 65 21 62
Psychosine Lipidosis 65 21 62
 
Beta Galactocerebrosidase Deficiency 8 62
Galactosylceramidase Deficiency 19 48
Galactosylceramide Lipidosis 65 21
Krabbe's Disease 8 20
Gcl 42 21
Gld 42 21
Late-Onset Globoid Cell Leukodystrophy 62
Galactosyl Ceramide Lipidosis 62
Late-Onset Krabbe Disease 65
Krabbe's Leukodystrophy 8
Krabbe Leukodystrophy 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:10587
MeSH34 D007965
NCIt39 C61254
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0023521

Related Diseases for Krabbe Disease

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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.6PSAP, GALC
2metachromatic leukodystrophy30.9ARSA, GALC, PSAP
3demyelinating disease30.7ARSA, MBP, GALC
4sphingolipidosis30.4PSAP, GALC, ARSA
5lysosomal storage disease29.7CHIT1, PSAP, GLB1, GALC, GAA, ARSA
6multiple sclerosis29.6MBP, NOS2, PLA2G4A, CHIT1
7infantile krabbe disease10.7
8krabbe disease atypical due to saposin a deficiency10.4
9fucosidosis10.3
10graft versus host disease10.3
11hydrocephalus10.3
12mannosidosis10.3
13aspartylglucosaminuria10.3
14obstructive hydrocephalus10.3
15sly syndrome10.3
16central nervous system disease10.3
17nervous system disease10.3
18wallerian degeneration10.3
19tremor10.3
20spinocerebellar degeneration10.3
21neuronitis10.3
22neuropathy10.3
23peripheral neuropathy10.3
24late-infantile/juvenile krabbe disease10.3
25adult krabbe disease10.3
26congenital fiber-type disproportion10.2
27hematopoietic stem cell transplantation10.2
28cerebritis10.2
29krabbe disease, atypical10.2
30gangliosidosis10.2GALC, GLB1, PSAP
31gm1 gangliosidosis type 110.2ARSA, GLB1, PSAP
32gaucher's disease10.1CHIT1, PSAP, GALC, ARSA
33mucolipidosis10.1GLB1, PSAP
34fabry disease10.1CHIT1, PSAP, GAA, ARSA
35gaucher disease type 110.1PSAP, CHIT1
36mucopolysaccharidosis10.1GLB1, GAA, ARSA
37congenital generalized lipodystrophy type 210.1
38adrenoleukodystrophy10.0
39motor neuron disease10.0
40rett syndrome10.0
41conjunctivitis10.0
42neuronal ceroid lipofuscinosis10.0
43myoclonus10.0
44metabolic syndrome x10.0ARSA, MBP, GAA, PRKAB1
45cerebrovascular disease9.7CHIT1, PLA2G6, PLA2G2A, MBP
46coronary artery anomaly9.7PRKAB1, PLA2G6, PLA2G2A, NOS2
47hyperglycemia9.7PRKAB1, PLA2G4A, CASP3, NOS2
48sepsis9.6PSAP, PLA2G6, PLA2G2A, NOS2
49schizophrenia9.5PLA2G6, PLA2G4A, PLA2G2A, MBP, ARSA
50colonic benign neoplasm9.4PRKAB1, PLA2G4A, PLA2G2A, CASP3, GAA, NOS2

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



Diseases related to krabbe disease

Symptoms for Krabbe Disease

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Symptoms by clinical synopsis from OMIM:

245200

Clinical features from OMIM:

245200,611722

Symptoms:

48 (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

HPO human phenotypes related to Krabbe Disease:

(show all 44)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 behavioral abnormality hallmark (90%) HP:0000708
4 abnormality of the thumb hallmark (90%) HP:0001172
5 hypertonia hallmark (90%) HP:0001276
6 incoordination hallmark (90%) HP:0002311
7 developmental regression hallmark (90%) HP:0002376
8 emg abnormality hallmark (90%) HP:0003457
9 peripheral neuropathy hallmark (90%) HP:0009830
10 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
11 cognitive impairment hallmark (90%) HP:0100543
12 behavioral abnormality typical (50%) HP:0000708
13 seizures typical (50%) HP:0001250
14 gait disturbance typical (50%) HP:0001288
15 recurrent respiratory infections typical (50%) HP:0002205
16 abnormality of temperature regulation typical (50%) HP:0004370
17 hemiplegia/hemiparesis typical (50%) HP:0004374
18 weight loss occasional (7.5%) HP:0001824
19 autosomal recessive inheritance HP:0000007
20 hydrocephalus HP:0000238
21 hearing impairment HP:0000365
22 blindness HP:0000618
23 nystagmus HP:0000639
24 optic atrophy HP:0000648
25 decreased nerve conduction velocity HP:0000762
26 seizures HP:0001250
27 muscular hypotonia HP:0001252
28 hypertonia HP:0001276
29 failure to thrive HP:0001508
30 episodic fever HP:0001954
31 autoimmune thrombocytopenia HP:0001973
32 vomiting HP:0002013
33 neurodegeneration HP:0002180
34 progressive spasticity HP:0002191
35 motor deterioration HP:0002333
36 eeg abnormality HP:0002353
37 developmental regression HP:0002376
38 diffuse cerebral atrophy HP:0002506
39 increased csf protein HP:0002922
40 hyperactive deep tendon reflexes HP:0006801
41 sensorimotor neuropathy HP:0007141
42 cns demyelination HP:0007305
43 abnormal flash visual evoked potentials HP:0007928
44 peripheral demyelination HP:0011096

Drugs & Therapeutics for Krabbe Disease

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Drug clinical trials:

Search ClinicalTrials for Krabbe Disease

Search NIH Clinical Center 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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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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MalaCards organs/tissues related to Krabbe Disease:

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

Animal Models for Krabbe Disease or affiliated genes

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Publications for Krabbe Disease

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Articles related to Krabbe Disease:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype. (24262341)
2014
2
History, genetic, and recent advances on Krabbe disease. (25260228)
2014
3
Neuronal inclusions of I+-synuclein contribute to the pathogenesis of Krabbe disease. (24415155)
2014
4
Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? (24388568)
2013
5
Novel diffusion tensor imaging findings in Krabbe disease. (24149099)
2013
6
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. (22274816)
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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UniProtKB/Swiss-Prot genetic disease variations for Krabbe Disease:

64 (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:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1PSAPPSAP, 3-BP DEL, 207TGTdeletionPathogenic
2GALCNM_000153.3(GALC): c.1630G> A (p.Asp544Asn)single nucleotide variantPathogenicrs387906952GRCh37Chr 14, 88411937: 88411937
3GALCNM_000153.3(GALC): c.1796T> G (p.Ile599Ser)single nucleotide variantPathogenicrs387906953GRCh37Chr 14, 88407777: 88407777
4GALCGALC, GLY553ARGsingle nucleotide variantPathogenic
5GALCGALC, IVS13DS, G-A, +1single nucleotide variantPathogenic
6GALCGALC, 1-BP DEL, 1901TdeletionPathogenic
7GALCNM_000153.3(GALC): c.857G> A (p.Gly286Asp)single nucleotide variantPathogenicrs199847983GRCh37Chr 14, 88434730: 88434730
8GALCNM_000153.3(GALC): c.953C> G (p.Pro318Arg)single nucleotide variantPathogenicrs387906954GRCh37Chr 14, 88431929: 88431929
9GALCNM_000153.3(GALC): c.121G> A (p.Gly41Ser)single nucleotide variantPathogenicrs387906955GRCh37Chr 14, 88459388: 88459388
10GALCNM_000153.3(GALC): c.1153G> T (p.Glu385Ter)single nucleotide variantPathogenicrs121908010GRCh37Chr 14, 88429736: 88429736
11GALCGALC, 30-KB DEL, IVS10deletionPathogenic

Expression for genes affiliated with Krabbe Disease

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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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Compounds for genes affiliated with Krabbe Disease

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Compounds related to Krabbe Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 1918)
idCompoundScoreTop Affiliating Genes
1D-Galactose249.9GLB1, GALC, GAA
2glucosylceramide44 2410.7CHIT1, PSAP, GLB1, GALC
3mannose 6-phosphate44 2410.6GALC, PSAP, GAA, ARSA
4scalaradial449.6PLA2G6, PLA2G4A, PLA2G2A
5manoalide449.6PLA2G6, PLA2G4A, PLA2G2A
6p-bromophenacyl bromide449.6PLA2G4A, PLA2G6, PLA2G2A
7bromoenol lactone449.6PLA2G6, PLA2G4A, PLA2G2A
8melittin449.5PLA2G2A, PLA2G4A, PLA2G6
9aacocf3449.5PLA2G4A, PLA2G6, PLA2G2A
10lysophospholipid449.5PLA2G2A, PLA2G4A, PLA2G6
11aristolochic acid44 210.5PLA2G2A, PLA2G4A, PLA2G6
12LysoPC(O-18:0)249.4PLA2G4A, PLA2G6, PLA2G2A
13LysoPC(22:1(13Z))249.4PLA2G2A, PLA2G4A, PLA2G6
14LysoPC(22:0)249.4PLA2G6, PLA2G4A, PLA2G2A
15LysoPC(18:1(11Z))249.3PLA2G4A, PLA2G6, PLA2G2A
16LysoPC(22:2(13Z,16Z))249.3PLA2G2A, PLA2G4A, PLA2G6
17staurosporin449.3PLA2G4A, CASP3, PLA2G2A
18galactosylceramide449.3MBP, PSAP, GALC, ARSA
19LysoPC(20:5(5Z,8Z,11Z,14Z,17Z))249.3PLA2G6, PLA2G4A, PLA2G2A
203-O-Sulfogalactosylceramide (d18:1/24:0)249.2PSAP, MBP, ARSA, GALC
21LysoPC(16:1(9Z))249.2PLA2G6, PLA2G4A, PLA2G2A
22mafp449.2NOS2, PLA2G2A, PLA2G6, PLA2G4A
23LysoPC(16:0)249.2PLA2G6, PLA2G4A, PLA2G2A
24LysoPC(20:4(8Z,11Z,14Z,17Z))249.2PLA2G6, PLA2G4A, PLA2G2A
25sulfatide449.2PSAP, GLB1, MBP, ARSA
26ganglioside449.1MBP, PSAP, GLB1, ARSA
27LysoPC(15:0)249.1PLA2G6, PLA2G4A, PLA2G2A
28c2ceramide449.0CASP3, PLA2G2A, NOS2, PLA2G4A
29palmitate448.9PRKAB1, PLA2G6, PLA2G2A, PLA2G4A
30ceramide448.9ARSA, PLA2G2A, CASP3, PSAP, PLA2G4A
31LysoPC(18:0)248.9PLA2G2A, PLA2G4A, PLA2G6
32gf 109203x44 619.6MBP, PLA2G2A, PLA2G6, PLA2G4A
33choline44 24 1110.5PLA2G2A, PLA2G4A, PLA2G6, PSAP, MBP
34fatty acid448.5GAA, PRKAB1, PLA2G6, PLA2G4A, PLA2G2A, GALC
35ly294002448.4PLA2G2A, PLA2G4A, PRKAB1, NOS2, CASP3
36actinomycin d448.4PLA2G6, PLA2G4A, PLA2G2A, CASP3, NOS2
37phospholipid448.4PLA2G4A, PSAP, PLA2G6, PLA2G2A, MBP
38sb 20358044 619.3CASP3, PLA2G4A, PLA2G6, PRKAB1, NOS2
39indomethacin44 28 61 1111.3PLA2G4A, PLA2G6, NOS2, PLA2G2A, MBP
40Water248.1CHIT1, GAA, PLA2G6, ARSA, PLA2G4A, PLA2G2A
41genistein44 28 61 2 24 1113.0PLA2G6, NOS2, CASP3, PLA2G2A, PLA2G4A, PRKAB1
42lactate448.0MBP, PRKAB1, PLA2G2A, CASP3, GAA, ARSA
43phosphatidylserine44 28 119.9MBP, PLA2G2A, PLA2G6, PSAP, CASP3, PLA2G4A
44arginine447.8MBP, PLA2G4A, NOS2, GAA, PLA2G2A, PSAP
45n acetylcysteine447.7PLA2G2A, PRKAB1, NOS2, MBP, CASP3, PLA2G4A
46cycloheximide447.7CASP3, PLA2G4A, PLA2G6, NOS2, MBP, PLA2G2A
47cysteine447.5MBP, ARSA, CASP3, PSAP, PLA2G6, PLA2G4A
48h2o2447.2PRKAB1, NOS2, CASP3, PLA2G2A, PLA2G4A, PLA2G6
49serine447.0PLA2G2A, MBP, CASP3, PLA2G6, PSAP, PLA2G4A
50lipid446.8MBP, ARSA, GALC, PLA2G2A, PLA2G4A, PLA2G6

GO Terms for genes affiliated with Krabbe Disease

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

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
  • Proteins
  • Lysates

Sources for Krabbe Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet