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:
42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 21Genetics Home Reference, 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.

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.

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.

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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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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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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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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50PubMed
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Articles related to Gaucher's Disease:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
Taliglucerase alfa for the treatment of Gaucher's disease. (22916340)
2012
2
Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase. (21700212)
2011
3
Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III. (19603156)
2009
4
Gaucher's disease diagnosed by splenectomy. (22666685)
2009
5
Multiple myeloma simulating Gaucher's disease. (16846472)
2006
6
Hyperferritinemia revealing Gaucher's disease. (12798221)
2003
7
Effect of enzyme replacement therapy on lipid profile in patients with Gaucher's disease]. (12747811)
2003
8
Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease. (11924537)
2002
9
Neurological features in Gaucher's disease during enzyme replacement therapy. (11236058)
2001
10
An avascular crisis in Gaucher's disease. (10750976)
2000
11
Mitral valve prolapse and mitral insufficiency in two siblings with Gaucher's disease. (22368585)
2000
12
Macular changes in type I Gaucher's disease. (10928672)
2000
13
Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. (10942924)
2000
14
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. (10398575)
1999
15
The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. (9691718)
1998
16
Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia. (9723584)
1998
17
Cardiac response to enzyme-replacement therapy in Gaucher's disease. (9776652)
1998
18
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease. (9414262)
1997
19
Obliteration of maxillary and sphenoid sinuses in Gaucher's disease. (9227238)
1997
20
Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease]. (9381260)
1997
21
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. (9382473)
1997
22
Gaucher's disease: studies of gene transfer to haematopoietic cells. (9497863)
1997
23
A practical approach to diagnosis and management of Gaucher's disease. (9497866)
1997
24
Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher's disease. (8612670)
1996
25
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. (8950883)
1996
26
Capillary electrophoretic analysis of DNA restriction fragments and PCR products for polymorphism and mutation studies in cystic fibrosis and Gaucher's disease. (9696564)
1995
27
The selective advantage of Gaucher's disease: TB or not TB? (8002277)
1994
28
Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. (8030654)
1994
29
Enzyme replacement therapy in type 1 Gaucher's disease]. (7997130)
1994
30
Gaucher's disease with haematological complications. (8444599)
1993
31
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. (8437594)
1993
32
A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types. (1672707)
1991
33
Treatment of type 1 Gaucher's disease affecting bone with aminohydroxypropylidene bisphosphonate (pamidronate). (1946931)
1991
34
Autoimmune hemolytic anemia in Gaucher's disease. (2319738)
1990
35
Ultrasonographic appearance of well-defined splenic space-occupying lesions in Gaucher's disease. (2184146)
1990
36
Richter's transformation of lymphoma complicating Gaucher's disease. (2789215)
1989
37
Aseptic necrosis of the capitate secondary to Gaucher's disease: a case report. (2794720)
1989
38
Pseudo-osteomyelitis in Gaucher's disease. (2671874)
1989
39
Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements. (2593834)
1989
40
Gaucher's disease involving the maxillary sinuses. (3276344)
1988
41
Long-standing bony change in Gaucher's disease. (3503038)
1987
42
Infantile Gaucher's disease. (3679482)
1987
43
Unusual disco-vertebral changes in Gaucher's disease. (3664188)
1987
44
Scintigraphic findings in Gaucher's disease. (3760980)
1986
45
Gaucher's disease associated with chronic lymphocytic leukaemia. (3466735)
1986
46
Gaucher's disease. (6493737)
1984
47
Bone-marrow transplantation in severe Gaucher's disease. (6377066)
1984
48
Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship. (6437419)
1984
49
Coexistence of Gaucher's disease and multiple myeloma. (7138174)
1982
50
Hepatic calcifications in a patient with Gaucher's disease. (7072688)
1982

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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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
10.4ADA, SMPD1, ASAH2, ACP5, GBA
210.4IDUA, PSAP, SCARB2, ARSA, GLA, GBA
3
Hide members
10.4IDUA, PSAP, ARSH, ARSA, UGCG, PKLR
4
Hide members
10.4SMPD1, PSAP, ARSH, ARSA, UGCG, GLA

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