GD
MCID: GCH001
MIFTS: 77

Gaucher's Disease (GD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases categories
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Summaries for Gaucher's Disease

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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MedlinePlus:34 Gaucher's disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. this causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. this prevents these organs from working properly. there are three types: type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. it does not affect the brain. it can occur at any age. type 2, which causes severe brain damage, appears in infants. most children who have it die by age 2. in type 3, there may be liver and spleen enlargement. the brain is gradually affected. it usually starts in childhood or adolescence. gaucher's disease has no cure. treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. there is no good treatment for the brain damage of types 2 and 3. nih: national institute of neurological disorders and stroke

MalaCards: Gaucher's Disease, also known as gaucher disease, is related to gaucher disease type 1 and gaucher disease type 2, and has symptoms including bruisability, bone pain and edema of the legs/lower limbs. An important gene associated with Gaucher's Disease is GBA (glucosidase, beta, acid), and among its related pathways are Purine metabolism and Lysosome. The compounds conduritol b epoxide and 4-methylumbelliferyl-beta-d-glucoside have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related mouse phenotypes are hematopoietic system and immune system.

Genetics Home Reference:21 Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

NIH Rare Diseases:43 Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. signs and symptoms vary widely among affected individuals. there are different types of this condition: gaucher disease perinatal lethal, gaucher disease type 1, gaucher disease type 2, and gaucher disease type 3. gaucher disease type 1 is the most common form of this condition. gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the gba gene. last updated: 5/3/2011

NINDS:44 Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.

Wikipedia:65 Gaucher\'s disease or Gaucher disease (/?o???e?/) is a genetic disease in which a fatty substance... more...

Description from OMIM:47 231000,230800,230900

GeneReviews summary for gaucher

Aliases & Classifications for Gaucher's Disease

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Sources:
8Disease Ontology, 65Wikipedia, 21Genetics Home Reference, 34MedlinePlus, 43NIH Rare Diseases, 19GeneReviews, 44NINDS, 45Novoseek, 62UMLS, 9diseasecard, 20GeneTests, 22GTR, 49Orphanet, 10DISEASES, 47OMIM, 58SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
non-cerebral juvenile gaucher disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

gaucher's disease 8 65 21 34
gaucher disease 8 65 19 43 21 44 45 62
glucosylceramidase deficiency 65 19 43 21
kerasin thesaurismosis 8 65 43 21
lipoid histiocytosis 8 65 21 62
glucosylceramide beta-glucosidase deficiency 8 65 21
glucosyl cerebroside lipidosis 65 43 21
cerebroside lipidosis syndrome 65 43 21
glucocerebrosidase deficiency 65 19 21
gaucher disease, type 9 20 22
glucocerebrosidosis 65 43 21
kerasin lipoidosis 65 43 21
acute cerebral gaucher disease 43 62
glucosylceramide lipidosis 65 21
kerasin histiocytosis 65 21
gaucher splenomegaly 43 21
gauchers disease 21 10
gd 65 21
non-cerebral juvenile gaucher disease 49
anemia, splenic, familial 65
gaucher disease, type 1 62
gaucher disease type 1 49
lipidosis, cerebroside 65
sphingolipidosis 1 43
gaucher syndrome 21


External Ids:

Disease Ontology8 DOID:1926
NCIt40 C61268
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet59 62201009
UMLS via Orphanet63 C1961835

Related Diseases for Gaucher's Disease

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17GeneCards, 18GeneDecks
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Diseases in the Gaucher's Disease family:

Gaucher Disease Type 1 Gaucher Disease Type 2
Pseudo-Gaucher Disease Gaucher Disease Type 3
Gaucher Disease, Type Iiic

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

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 131.4CHIT1, GBA
2gaucher disease type 231.1GBA, PSAP
3gaucher disease type 331.1GBA, PSAP
4splenomegaly30.7CHIT1, GBA
5hemolytic anemia30.6PKLR
6niemann-pick disease30.4ASAH2, PSAP
7fabry disease30.4CHIT1, PSAP, GBA, ARSA
8tay-sachs disease30.2PSAP, ARSA
9leukodystrophy30.2ARSH, PSAP
10krabbe disease30.2PSAP, ARSA, CHIT1
11mucopolysaccharidosis30.2ARSH, ARSA
12metachromatic leukodystrophy30.1ARSA, PSAP, ARSH
13sphingolipidosis30.1ARSA, PSAP, ASAH2, GBA
14chitotriosidase deficiency30.1CHIT1
15osteonecrosis30.0BGLAP
16dementia29.9ARSA, CHIT1, GBA
17herpes simplex10.6
18gaucher disease perinatal lethal10.5
19congenital nonspherocytic hemolytic anemia10.3
20keratitis10.3
21pseudo-gaucher disease10.3
22gaucher disease, type iiic10.3
23graves' disease10.2
24liver cirrhosis10.2
25hepatitis10.2
26nephrogenic systemic fibrosis10.2
27endolymphatic hydrops10.2
28hypersplenism10.2
29hypertension10.2
30thrombocytopenia10.2
31gaucher disease, atypical, due to saposin c deficiency10.2
32gaucher disease, atypical10.2
33hematopoietic stem cell transplantation10.2
34genital herpes10.1
35cerebritis10.1
36adenoma10.1
37hepatocellular carcinoma10.1
38nonalcoholic steatohepatitis10.1
39lipogranulomatosis10.1ASAH2
40mucolipidosis10.1ARSA
41adenosine deaminase deficiency10.1ADA, GBA
42gangliosidosis gm110.1PSAP, ARSA
43farber lipogranulomatosis10.1PSAP, ASAH2
44hepatopulmonary syndrome10.1
45neuronitis10.1
46adrenoleukodystrophy10.1
47cholelithiasis10.1
48joubert syndrome10.1
49parkinson's disease10.1
50amyloidosis10.1

Graphical network of the top 20 diseases related to Gaucher's Disease:



Diseases related to gaucher's disease

Symptoms for Gaucher's Disease

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47OMIM, 49Orphanet
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Clinical features from OMIM:

231000,230800,230900

Symptoms:

49 (show all 35)
  • bruisability
  • bone pain
  • edema of the legs/lower limbs
  • hypergammaglobulinemia
  • bone marrow failure/pancytopenia
  • leukopenia/hypoleukocytosis
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • splenomegaly
  • thrombocytopenia/thrombopenia
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • ascitis
  • asthenia/fatigue/weakness
  • late puberty/hypogonadism/hypogenitalism
  • proteinuria
  • osteonecrosis/bone infarction
  • delayed bone age
  • hepatomegaly/liver enlargement (excluding storage disease)
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • kyphosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hepatitis/icterus/cholestasis
  • anaemia
  • gingivorrhagia/gingival bleeding
  • osteolysis/osteoclasia/bone destruction/erosions
  • hematuria/microhematuria
  • myocardium anomalies/myocarditis
  • pulmonary hypertension
  • cirrhosis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • acute abdominal pain/colic
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • mutiple fractures/bone fragility
  • osteosclerosis/osteopetrosis/bone condensation
  • osteoarthritis

Drugs & Therapeutics for Gaucher's Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Gaucher's Disease

Search NIH Clinical Center for Gaucher's Disease

Genetic Tests for Gaucher's Disease

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20GeneTests, 22GTR
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Genetic tests related to Gaucher's Disease:

id Genetic test Affiliating Genes
1 Gaucher Disease20 22 GBA

Anatomical Context for Gaucher's Disease

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33MalaCards
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MalaCards organs/tissues related to Gaucher's Disease:

33
Bone, Liver, Spleen, Brain, Lung, Kidney, Bone marrow, Eye, Testes, Spinal cord, B cells, Endothelial, Heart, Monocytes, Myeloid, Breast, Colon, Smooth muscle

Animal Models for Gaucher's Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Gaucher's Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1MRC1, ADA, PSAP, ACP5, PKLR, ARSA
2MP:00053877.5GBA, MRC1, ADA, CHIT1, PSAP, ACP5
3MP:00053767.3ARSA, GBA, MRC1, SCARB2, ADA, ASAH2

Publications for Gaucher's Disease

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52PubMed
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Articles related to Gaucher's Disease:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
Gaucher's disease: rare presentation of a rare disease. (22914376)
2013
2
Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings. (22988312)
2012
3
Taliglucerase alfa for the treatment of Gaucher's disease. (22916340)
2012
4
Cor pulmonale in a case of infantile Gaucher's disease. (21731876)
2011
5
Velaglucerase (Vpriv) for Gaucher's disease. (20508578)
2010
6
Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease. (20093936)
2010
7
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. (19177047)
2009
8
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher's disease. (17976508)
2008
9
Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat. (17049454)
2007
10
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. (15794178)
2005
11
Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis. (16213406)
2005
12
Bone crisis in stable Gaucher's disease. (16299062)
2005
13
Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease. (11924537)
2002
14
Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood. (11118268)
2001
15
Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers). (11532627)
2001
16
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. (11148530)
2001
17
Gaucher's disease. Enzyme therapy is not enough. (11784578)
2001
18
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. (11044944)
2000
19
Gaucher's disease: a review for the internist and hepatologist. (11020862)
2000
20
MRI in acute neuropathic Gaucher's disease. (10663472)
2000
21
Cytokines in Gaucher's disease. (10400826)
1999
22
Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. (9793273)
1998
23
Loss of vision in Gaucher's disease and its reversal by enzyme-replacement therapy. (9583981)
1998
24
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease. (9314241)
1997
25
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease. (9414262)
1997
26
Gaucher's disease: molecular, genetic and enzymological aspects. (9497856)
1997
27
Bone involvement in Gaucher's disease: 'bone crisis' or disease complication? (8737728)
1996
28
Gaucher's disease in pregnancy. (8873155)
1996
29
MR imaging of patients with type 1 Gaucher's disease: relationship between bone and visceral changes. (7645477)
1995
30
Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. (7996964)
1994
31
Gaucher's disease with haematological complications. (8444599)
1993
32
Clinical heterogeneity among patients with Gaucher's disease. (8433471)
1993
33
Treatment of Gaucher's disease. (8479496)
1993
34
Gene transfer and bone marrow transplantation with special reference to Gaucher's disease. (8448536)
1993
35
Gaucher's disease associated with chronic lymphocytic leukemia. (8465231)
1993
36
Gaucher's disease. Plain radiography, US, CT and MR diagnosis of lungs, bone and liver lesions. (1594320)
1992
37
Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease. Two case reports and a review of the literature. (1572115)
1992
38
Neurologic complications of nonneuronopathic Gaucher's disease. (1845033)
1991
39
Enzyme-replacement therapy for Gaucher's disease. (1944489)
1991
40
Use of 4-heptylumbelliferyl-beta-D-glucoside to identify Gaucher's disease heterozygotes. (2515009)
1989
41
Richter's transformation of lymphoma complicating Gaucher's disease. (2789215)
1989
42
Gaucher's disease. (3162200)
1988
43
Partial splenectomy for Gaucher's disease. (3592812)
1987
44
Sucrose gradient analysis of phospholipid-activated beta-glucosidase in type 1 and type 2 Gaucher's disease. (3920967)
1985
45
Association of dysgerminoma and gaucher's disease. (6821841)
1983
46
Coexistence of Gaucher's disease and multiple myeloma. (7138174)
1982
47
Multiple myeloma complicating Gaucher's disease. (7064469)
1982
48
Hemorrhagic bursitis and bone crises in chronic adult Gaucher's disease: a case report. (7138606)
1982
49
Brain glucocerebrosidase in Gaucher's disease. (6810854)
1982
50
Hypersplenism, an unusual case of splenic pancytopenia secondary to Gaucher's disease in an adult. (14824747)
1951

Variations for Gaucher's Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gaucher's Disease:

1 (show all 36)
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
3GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
4GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
5GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
6GBANM_001005741.2(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
7GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
8GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
9GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
10GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)single nucleotide variantPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
11GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)single nucleotide variantPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
12GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
13GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210451: 155210452
14GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
15GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)single nucleotide variantPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
16GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
17GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
18GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)single nucleotide variantPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
19GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)single nucleotide variantPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
20GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)single nucleotide variantPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
21GBANM_001005741.2(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs80356773GRCh37Chr 1, 155204793: 155204793
22GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
23GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)single nucleotide variantPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
24GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenic, Uncertain significancers364897GRCh37Chr 1, 155208006: 155208006
25GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)single nucleotide variantPathogenicrs121908303GRCh37Chr 1, 155207368: 155207368
26GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)single nucleotide variantPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
27GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)single nucleotide variantPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
28GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)single nucleotide variantPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
29GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)single nucleotide variantPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
30GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
31GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
32GBANM_001005741.2(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
33GBANM_001005741.2(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
34GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
35GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)single nucleotide variantPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
36GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher's Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher's Disease

Search GEO for disease gene expression data for Gaucher's Disease.

Pathways for genes affiliated with Gaucher's Disease

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 51PharmGKB
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Compounds for genes affiliated with Gaucher's Disease

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience, 51PharmGKB
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Compounds related to Gaucher's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1conduritol b epoxide4510.4GBA, PSAP
24-methylumbelliferyl-beta-d-glucoside4510.4PSAP, GBA
3miglustat45 1111.3GBA, CHIT1
4ccpa45 2911.3ADA, PSAP
5lactosylceramide4510.1GBA, PSAP
6galactosylceramide4510.1ARSA, PSAP
71,4-beta-D-Glucan2410.0GBA3, GBA
8cellobiose45 2411.0GBA3, GBA
9glycosphingolipid459.9ARSA, PSAP, GBA
101-deoxymannojirimycin hydrochloride619.9GBA, GBA3
11ogt 2115619.9GBA, GBA3
12mannose 6-phosphate45 2410.8ARSA, PSAP, GBA
13tartrate459.8BGLAP, ACP5
14sphingosine45 24 1111.7PSAP, ASAH2, GBA
15kifunensine61 45 1111.7GBA3, GBA
16Alpha-D-Glucose249.7GBA, GBA3
17Galactosylceramide (d18:1/22:0)249.7ARSA, ASAH2, GBA
18Galactosylceramide (d18:1/24:1(15Z))249.6ARSA, ASAH2, GBA
19Galactosylceramide (d18:1/26:1(17Z))249.6ARSA, ASAH2, GBA
20Galactosylceramide (d18:1/20:0)249.6GBA, ASAH2, ARSA
21Galactosylceramide (d18:1/16:0)249.6ARSA, ASAH2, GBA
22Galactosylceramide (d18:1/18:0)249.6ARSA, ASAH2, GBA
23Galactosylceramide (d18:1/18:1(9Z))249.6ARSA, ASAH2, GBA
24p-nitrocatechol sulfate459.6ARSH, ARSA
25miglitol61 45 1111.6GBA3, GBA
26D-Glucose249.6GBA, GBA3
27glucosylceramide45 2410.6PSAP, ASAH2, CHIT1, GBA
28n-acetylgalactosamine 6-sulfate459.6ARSH, ARSA
29formylglycine459.6ARSH, ARSA
30galactose459.6GBA3, GBA, MRC1
31mucopolysaccharide459.5ARSH, ARSA
32mannose459.5GBA, MRC1, CHIT1, ARSA
33cerebroside459.5ARSA, ARSH
34clodronate45 51 1111.4BGLAP, ACP5
353-O-Sulfogalactosylceramide (d18:1/24:0)249.4GBA, ASAH2, PSAP, ARSA
36ceramide459.4GBA, ASAH2, PSAP, ARSA
37sulfatide459.4PSAP, ARSH, ARSA
381-deoxynojirimycin61 45 1111.3GBA, GBA3
39polysaccharide459.3ARSA, CHIT1, SCARB2, MRC1, GBA
40sulfate45 2410.2PSAP, ARSH, ARSA
41tibolone459.2BGLAP, ACP5, ARSH
42carbohydrates459.1ARSH, PKLR, MRC1
43creatinine459.0ARSA, ACP5, ADA, BGLAP
44estrone45 29 24 1112.0ARSA, ARSH, BGLAP
45aspartate459.0BGLAP, ADA, ACP5, ARSA
46hydrogen45 249.7ARSA, ARSH, ACP5, PSAP, GBA
47Water248.6GBA3, GBA, ADA, CHIT1, ACP5, ARSA
48serine458.1GBA, BGLAP, PSAP, PKLR, ARSH, ARSA
49cysteine457.9GBA, BGLAP, ADA, PSAP, ACP5, ARSH
50lipid457.7ARSA, GBA, SCARB2, CHIT1, ASAH2, PSAP

GO Terms for genes affiliated with Gaucher's Disease

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Sources:
16Gene Ontology
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Cellular components related to Gaucher's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.4PSAP, SCARB2, GBA
2lysosomal lumenGO:0432029.3ARSA, PSAP, SCARB2, GBA
3lysosomeGO:0057649.0ADA, CHIT1, ACP5, ARSA
4extracellular spaceGO:0056158.5BGLAP, ADA, CHIT1, PSAP, ARSA
5integral component of membraneGO:0160217.4ASAH2, PSAP, MTX1, ACP5, ARSH, ARSA

Biological processes related to Gaucher's Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to testosteroneGO:0335749.7BGLAP, GBA
2response to pHGO:0092689.5ARSA, GBA
3negative regulation of inflammatory responseGO:0507289.4GBA, ADA, ACP5
4response to estrogenGO:0436279.3ARSA, BGLAP, GBA
5glycosphingolipid metabolic processGO:0066877.7ARSA, ARSH, PSAP, ASAH2, GBA, GBA3
6sphingolipid metabolic processGO:0066657.7GBA3, GBA, ASAH2, PSAP, ARSH, ARSA
7small molecule metabolic processGO:0442816.6GBA3, GBA, ADA, ASAH2, PSAP, ACP5

Molecular functions related to Gaucher's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:0040659.2ARSA, ARSH

Products for genes affiliated with Gaucher's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher's Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet