GD
MCID: GCH001
MIFTS: 79

Gaucher's Disease (GD) malady

Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Genetic diseases categories

Summaries for Gaucher's Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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 edema of the legs/lower limbs, proteinuria and hematuria/microhematuria. An important gene associated with Gaucher's Disease is GBA (glucosidase, beta, acid), and among its related pathways are Metabolism and Lysosome. The compounds glycosphingolipid and miglustat have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related mouse phenotypes are immune system and mortality/aging.

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:42 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:43 Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.

Wikipedia:63 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) is a genetic disease in which a fatty substance... more...

Description from OMIM:46 230800,231000,230900

GeneReviews summary for gaucher

Aliases & Classifications for Gaucher's Disease

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 46OMIM, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
non-cerebral juvenile gaucher disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

gaucher's disease 8 63 21 33
gaucher disease 63 19 42 20 22 21 43 44 60
lipoid histiocytosis 8 63 21 60
glucosylceramide beta-glucosidase deficiency 8 63 21
glucosyl cerebroside lipidosis 63 42 21
cerebroside lipidosis syndrome 63 42 21
glucosylceramidase deficiency 63 19 21
glucocerebrosidase deficiency 63 19 21
kerasin thesaurismosis 8 63 21
glucocerebrosidosis 63 42 21
acute cerebral gaucher disease 42 60
glucosylceramide lipidosis 63 21
kerasin histiocytosis 63 21
gaucher splenomegaly 42 21
kerasin lipoidosis 63 21
gauchers disease 21 10
gd 63 21
non-cerebral juvenile gaucher disease 48
anemia, splenic, familial 63
gaucher disease, type 1 60
lipidosis, cerebroside 63
gaucher disease type 1 48
gaucher disease, type 9
gaucher syndrome 21


External Ids:

Disease Ontology8 DOID:1926
NCIt39 C61268
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 62201009
UMLS via Orphanet61 C1961835

Related Diseases for Gaucher's Disease

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Sources:
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 180)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 131.3CHIT1, GBA
2gaucher disease type 231.1PSAP, GBA
3gaucher disease type 331.0PSAP, GBA
4niemann–pick disease30.3PSAP, CHIT1, ASAH2, SMPD1
5niemann-pick disease30.3PSAP, ASAH2, SMPD1
6fabry disease30.3PSAP, ARSA, UGCG, CHIT1, GLA, GBA
7lysosomal storage disease30.2IDUA, SMPD1, GBA, GLA, CHIT1, ARSA
8mucopolysaccharidosis30.1ARSA, ARSH, IDUA
9krabbe disease30.1PSAP, ARSA, CHIT1
10tay-sachs disease30.1GLA, ARSA, PSAP
11mucopolysaccharidosis i30.1IDUA, ARSH
12hydrocephalus30.1GBA
13leukodystrophy30.0PSAP, ARSH
14metachromatic leukodystrophy30.0ARSA, ARSH, PSAP
15sphingolipidosis29.9PSAP, ARSA, GBA, ASAH2
16dementia29.9GBA, CHIT1, ARSA
17atherosclerosis29.9SCARB2, UGCG, CHIT1, GLA, SMPD1
18cystic fibrosis29.9SMPD1
19deficiency anemia29.8GBA, CHIT1, PKLR
20herpes simplex10.6
21gaucher disease perinatal lethal10.5
22congenital nonspherocytic hemolytic anemia10.3
23congenital hemolytic anemia10.3
24hemolytic anemia10.3
25gaucher disease, type iiic10.3
26pseudo-gaucher disease10.3
27keratitis10.2
28liver cirrhosis10.2
29splenic disease10.2
30graves' disease10.2
31joubert syndrome10.2
32neurologic diseases10.2
33hypersplenism10.2
34hypertension10.2
35thrombocytopenia10.2
36gaucher disease, atypical, due to saposin c deficiency10.2
37gaucher disease, atypical10.2
38hepatitis10.2
39genital herpes10.1
40cerebritis10.1
41adenoma10.1
42hepatocellular carcinoma10.1
43parkinson's disease10.1
44hepatopulmonary syndrome10.1
45cholelithiasis10.1
46osteoporosis10.1
47amyloidosis10.1
48cholestasis10.1
49movement disease10.1
50multiple myeloma10.1

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



Diseases related to gaucher's disease

Clinical Features for Gaucher's Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

230800,231000,230900

Symptoms:

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

Drugs & Therapeutics for Gaucher's Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Gaucher's Disease

Drug clinical trials:

Search ClinicalTrials for Gaucher's Disease

Search NIH Clinical Center for Gaucher's Disease

Search CenterWatch for Gaucher's Disease

Genetic Tests for Gaucher's Disease

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Gaucher's Disease:

32
Bone, Liver, Spleen, Brain, Lung, Kidney, Bone marrow, Eye, Testes, Spinal cord, B cells, Endothelial, Heart, Smooth muscle, Colon, Breast, Myeloid, Monocytes

Animal Models for Gaucher's Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Gaucher's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538710.4ADA, IDUA, MRC1, PSAP, ARSA, PKLR
2MP:001076810.4MRC1, PSAP, SCARB2, UGCG, MTX1, PKLR
3MP:000537610.4ARSA, SCARB2, PSAP, MRC1, IDUA, UGCG
4MP:000537010.3IDUA, PSAP, GLA, GBA, SMPD1, ADA
5MP:000539710.1IDUA, MRC1, PSAP, ARSA, PKLR, GBA

Publications for Gaucher's Disease

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Sources:
50PubMed
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Articles related to Gaucher's Disease:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Gaucher's disease: rare presentation of a rare disease. (22914376)
2013
2
Hematologic manifestations and leukemia in Gaucher's disease. (23604244)
2013
3
A case of unusual association of Gaucher's disease with spinal tuberculosis. (23981762)
2013
4
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. (23118351)
2013
5
Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature. (22964618)
2012
6
Myocardial infiltration in Gaucher's disease detected by cardiac MRI. (21742390)
2012
7
Velaglucerase (Vpriv) for Gaucher's disease. (20508578)
2010
8
Severe skeletal involvement in a patient with Gaucher's disease. (19662484)
2009
9
Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature. (19513999)
2009
10
Phenotype, diagnosis, and treatment of Gaucher's disease. (19094956)
2008
11
Imiglucerase and its use for the treatment of Gaucher's disease. (18627336)
2008
12
Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score. (17515371)
2007
13
Mesenteric mass in a young girl--an unusual site for Gaucher's disease. (12195308)
2002
14
Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. (11563212)
2001
15
Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation). (10440752)
1999
16
Plasma lipoprotein responses to enzyme-replacement in Gaucher's disease. (10030334)
1999
17
Risk factors for osteonecrosis in patients with type 1 Gaucher's disease. (10335299)
1999
18
Continuous intravenous epoprostenol therapy for pulmonary hypertension in Gaucher's disease. (10531185)
1999
19
Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. (9793273)
1998
20
Pulmonary hypertension in type 1 Gaucher's disease. ComitAc d'Evaluation du Traitement de la Maladie de Gaucher. (9683246)
1998
21
Lessons from glucosylceramide and Gaucher's disease. (9826117)
1998
22
Non-Hodgkin's lymphoma associated with Gaucher's disease. (9922052)
1998
23
Pulmonary involvement in adult Gaucher's disease: high resolution CT appearance. (9059303)
1997
24
Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. (9093585)
1997
25
Skeletal involvement in Gaucher's disease. (9497865)
1997
26
Bone involvement in Gaucher's disease: 'bone crisis' or disease complication? (8737728)
1996
27
Effective treatment of painful bone crises in type I gaucher's disease with high dose prednisolone. (8976661)
1996
28
Low-dose versus high-frequency regimens in Gaucher's disease. (8598739)
1996
29
Osteoblastoma of the humerus associated with type-I Gaucher's disease. A case report. (8836053)
1996
30
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. (8829663)
1996
31
Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. (7769902)
1995
32
Transtrochanteric anterior rotational osteotomy for Gaucher's disease. A case report. (7671465)
1995
33
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. (8544197)
1995
34
Replacement therapy with imiglucerase for type 1 Gaucher's disease. (7769903)
1995
35
Treatment regimens in Gaucher's disease. (7658807)
1995
36
Gaucher's disease and acquired coagulopathy. (8178808)
1994
37
Ceredase dosing concerns for Gaucher's disease. (7942949)
1994
38
Gaucher's disease: a brand leader. (8103817)
1993
39
Gaucher's disease with mitral and aortic involvement: echocardiographic findings. (1736272)
1992
40
Gaucher's disease and acquired coagulopathy. (1478013)
1992
41
Type-II infantile form of Gaucher's disease. (2391156)
1990
42
Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. (2615292)
1989
43
Reversible splenic enlargement associated with pregnancy in a patient with Gaucher's disease. (3783524)
1986
44
Sucrose gradient analysis of phospholipid-activated beta-glucosidase in type 1 and type 2 Gaucher's disease. (3920967)
1985
45
Gaucher's disease type 1A: a case report. (3842723)
1985
46
Thrombocytopenia due to splenosis in Gaucher's disease 36 years after splenectomy. (3932159)
1985
47
Spinal cord compression secondary to Gaucher's disease. (6701766)
1984
48
Hemorrhagic bursitis and bone crises in chronic adult Gaucher's disease: a case report. (7138606)
1982
49
"Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy. (103410)
1979
50
Central depression of mulitple vertebral end-plates: a "pathognomonic" sign of sickle hemoglobinopathy in Gaucher's disease. (409178)
1977

Genetic Variations for Gaucher's Disease

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Expression for genes affiliated with Gaucher's Disease

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1BioGPS, 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:
53Reactome, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Gaucher's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4GBA, ACP5, ASAH2, SMPD1, ADA
210.4GLA, SMPD1, SCARB2, ACP5, IDUA, PSAP
3
Hide members
10.4UGCG, ARSA, ARSH, PSAP, PKLR, GLA
4
Hide members
10.4ASAH2, ARSH, ARSA, UGCG, GLA, GBA

Compounds for genes affiliated with Gaucher's Disease

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Gaucher's Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid4410.8PSAP, ARSA, UGCG, GLA, GBA
2miglustat44 1111.8UGCG, CHIT1, GBA
3lactosylceramide4410.8GBA, GLA, UGCG, PSAP
4mucopolysaccharide4410.8IDUA, ARSH, ARSA
5glucosylceramide44 2411.8SMPD1, PSAP, UGCG, CHIT1, GLA, GBA
6ceramides4410.8UGCG, GBA, ASAH2, SMPD1
7mannose4410.8IDUA, MRC1, ARSA, CHIT1, GLA, GBA
8mannose 6-phosphate44 2411.8IDUA, PSAP, ARSA, GLA, GBA, SMPD1
9chitin44 2411.8CHIT1, CHIA, GLA
10polysaccharide4410.8IDUA, MRC1, SCARB2, ARSA, CHIT1, GBA
11sphingosine44 11 2412.8PSAP, UGCG, GBA, ASAH2, SMPD1
12cerebroside4410.8GLA, ARSA, ARSH
13ganglioside4410.8IDUA, PSAP, ARSA, UGCG, GLA, SMPD1
14ceramide4410.8PSAP, ARSA, UGCG, GLA, GBA, ASAH2
15glycolipid4410.8PSAP, UGCG, GLA, GBA
16conduritol b epoxide4410.8PSAP, GBA
17sulfatide4410.8ARSA, ARSH, PSAP
18dihydroceramide44 2411.8SMPD1, ASAH2, GBA, UGCG
19p-nitrocatechol sulfate4410.8ARSH, ARSA
204-methylumbelliferyl-beta-d-glucoside4410.8GBA, PSAP
21hydrogen44 2411.8PSAP, ARSH, ARSA, GLA, GBA, ACP5
22galactose4410.8MRC1, UGCG, GLA, GBA
23lipid4410.8PSAP, SCARB2, ARSH, ARSA, UGCG, CHIT1
24sulfate44 2411.8IDUA, PSAP, ARSH, ARSA
25n-acetylgalactosamine 6-sulfate4410.7ARSH, ARSA
26formylglycine4410.7ARSH, ARSA
27cysteine4410.7PSAP, ARSH, ARSA, GBA, ACP5, SMPD1
28cholesterol44 28 11 2413.7PSAP, SCARB2, ARSH, UGCG, GBA, SMPD1
29ccpa44 2811.7ADA, PSAP
30arginine4410.6IDUA, PSAP, ARSH, GLA, SMPD1, ADA
31serine4410.6PSAP, ARSH, ARSA, UGCG, PKLR, GLA
32leucine4410.6GBA, GLA, ARSA, SCARB2, SMPD1
33galactosylceramide4410.6PSAP, ARSA
34aspartate4410.6ARSA, GLA, ACP5, SMPD1, ADA
35glucose4410.5PSAP, UGCG, PKLR, GLA, GBA, SMPD1
36phospholipid4410.5PSAP, GLA, GBA, SMPD1
37N-Acetyl-D-glucosamine11 2411.5CHIA, CHIT1
38glycosaminoglycan4410.4ARSA, ARSH, IDUA
39doxorubicin44 49 1112.3IDUA, UGCG, SMPD1, ADA
40calcium44 49 11 2413.1CCL18, PSAP, ARSH, GLA, GBA, THBS3

GO Terms for genes affiliated with Gaucher's Disease

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00561510.4ADA, SMPD1, CHIA, CHIT1, PSAP, CCL18
2lysosomal lumenGO:04320210.3SMPD1, GBA, GLA, ARSA, SCARB2, PSAP
3lysosomeGO:00576410.1ARSA, CHIT1, GLA, ACP5, ADA

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00668710.6SMPD1, PSAP, ARSH, ARSA, UGCG, GLA
2polysaccharide catabolic processGO:00027210.6CHIA, CHIT1
3sphingolipid metabolic processGO:00666510.6PSAP, ARSH, ARSA, UGCG, GLA, GBA
4termination of signal transductionGO:02302110.6SMPD1, GBA
5negative regulation of inflammatory responseGO:05072810.5GBA, ACP5, ADA
6small molecule metabolic processGO:04428110.5UGCG, ARSA, ARSH, PSAP, IDUA, PKLR
7ceramide biosynthetic processGO:04651310.5SMPD1, GBA
8chitin catabolic processGO:00603210.5CHIA, CHIT1
9negative regulation of nitric oxide biosynthetic processGO:04501910.4ACP5, GLA
10positive regulation of protein dephosphorylationGO:03530710.2SMPD1, GBA

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:00406510.5ARSA, ARSH
2chitin bindingGO:00806110.4CHIA, CHIT1
3chitinase activityGO:00456810.2CHIA, CHIT1

Products for genes affiliated with Gaucher's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher's 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