GD
MCID: GCH001
MIFTS: 73

Gaucher's Disease (GD) malady

Neuronal, Eye, Respiratory, Metabolic, Genetic categories

Summaries for Gaucher's Disease

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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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 3, and has symptoms including osteoarthritis, failure to thrive/difficulties for feeding in infancy/growth delay and kyphosis. 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 liver, spinal cord and brain, and related mouse phenotypes are immune system and mortality/aging.

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.

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

Description from OMIM:47 230800,231000,230900

GeneReviews summary for gaucher

Aliases & Classifications for Gaucher's Disease

Sources:
8Disease Ontology, 64Wikipedia, 21Genetics Home Reference, 61UMLS, 34MedlinePlus, 9diseasecard, 49Orphanet, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 45Novoseek, 10DISEASES, 47OMIM, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 64 21 34
gaucher disease 64 19 43 20 22 21 44 45 61
lipoid histiocytosis 8 64 21 61
glucosylceramide beta-glucosidase deficiency 8 64 21
glucosyl cerebroside lipidosis 64 43 21
cerebroside lipidosis syndrome 64 43 21
glucocerebrosidase deficiency 64 19 21
glucosylceramidase deficiency 64 19 21
kerasin thesaurismosis 8 64 21
glucocerebrosidosis 64 43 21
acute cerebral gaucher disease 43 61
glucosylceramide lipidosis 64 21
kerasin histiocytosis 64 21
gaucher splenomegaly 43 21
kerasin lipoidosis 64 21
gauchers disease 21 10
gd 64 21
non-cerebral juvenile gaucher disease 49
anemia, splenic, familial 64
gaucher disease, type 1 61
gaucher disease type 1 49
lipidosis, cerebroside 64
gaucher disease, type 9
gaucher syndrome 21


External Ids:

Disease Ontology8 DOID:1926
NCIt40 C61268
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 62201009
UMLS via Orphanet62 C1961835

Related Diseases for Gaucher's Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 157)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 130.9CHIT1, GBA
2gaucher disease type 330.9PSAP, GBA
3gaucher disease type 230.8PSAP, GBA
4splenomegaly30.6CHIT1, GBA
5niemann–pick disease30.4PSAP, CHIT1, ASAH2, SMPD1
6niemann-pick disease30.4PSAP, ASAH2, SMPD1
7fabry disease30.4PSAP, ARSA, UGCG, CHIT1, GLA, GBA
8sphingolipidosis30.2PSAP, ARSA, GBA, ASAH2
9krabbe disease30.2PSAP, ARSA, CHIT1
10metachromatic leukodystrophy30.1ARSA, ARSH, PSAP
11mucopolysaccharidosis i29.9IDUA, ARSH
12atherosclerosis29.9SCARB2, UGCG, CHIT1, GLA, SMPD1
13cystic fibrosis29.9SMPD1
14gaucher disease perinatal lethal10.6
15pseudo-gaucher disease10.4
16congenital nonspherocytic hemolytic anemia10.3
17parkinson's disease10.3
18gaucher disease, type iiic10.3
19splenic disease10.3
20gaucher disease, atypical10.3
21graves' disease10.2
22joubert syndrome10.2
23lip disease10.2
24hypersplenism10.2
25thrombocytopenia10.2
26niemann-pick disease type d10.2
27gaucher disease, atypical, due to saposin c deficiency10.2
28hematopoietic stem cell transplantation10.2
29nephrogenic systemic fibrosis10.2
30endolymphatic hydrops10.2
31genital herpes10.1
32adenoma10.1
33nonalcoholic steatohepatitis10.1
34hepatopulmonary syndrome10.1
35cholelithiasis10.1
36osteoporosis10.1
37amyloidosis10.1
38vascular disease10.1
39myoclonus epilepsy10.1
40gaucher disease, cardiovascular form10.1
41myoclonus10.1
42corneal disease10.1
43adult syndrome10.1
44b cell deficiency10.1
45fucosidosis10.1
46aspartylglucosaminuria10.1
47adrenoleukodystrophy10.1
48n syndrome10.1
49brain disease10.1
50tooth disease10.1

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



Diseases related to gaucher's disease

Clinical Features for Gaucher's Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

230800,231000,230900

Symptoms:

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

Drugs & Therapeutics for Gaucher's Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Gaucher's Disease:

id Genetic test Affiliating Genes
1 Gaucher Disease20 22 GBA

Anatomical Context for Gaucher's Disease

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Gaucher's Disease:

33
Liver, Spinal cord, Brain, Kidney, Lung, Spleen, Bone marrow, Smooth muscle, Skeletal muscle, Small intestine, Breast, Monocytes, T cells, B cells, Endothelial

Animal Models for Gaucher's Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Gaucher's Disease:

37
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

Sources:
51PubMed
See all sources

Articles related to Gaucher's Disease:

(show top 50)    (show all 358)
idTitleAuthorsYear
1
Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study. (22976766)
2013
2
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease. (23783781)
2013
3
Medical image. an unusual cause of massive splenomegaly in an adult. Gaucher's disease. (22960721)
2012
4
Synchronous presentation of Gaucher disease and solitary plasmacytoma with progression to multiple myeloma. (22089053)
2011
5
Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease. (21469198)
2011
6
Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia. (21883686)
2011
7
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. (21653695)
2011
8
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. (20947659)
2011
9
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. (19804996)
2010
10
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. (19195916)
2009
11
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. (18429048)
2008
12
Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease. (18502707)
2008
13
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
14
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. (17666401)
2007
15
Secondary sphingolipid accumulation in a macrophage model of Gaucher disease. (17881272)
2007
16
A familial concurrence of schizophrenia and Gaucher's disease. (18086296)
2007
17
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. (17919546)
2007
18
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays. (16329099)
2006
19
Short-term effect of miglustat in every day clinical use in treatment-naA^ve or previously treated patients with type 1 Gaucher's disease. (16627252)
2006
20
Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease. (16512834)
2006
21
Bone crisis in stable Gaucher's disease. (16299062)
2005
22
Miglustat: new drug. In type 1 Gaucher's disease : a slight benefit after imiglucerase therapy. (16285070)
2005
23
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). (15329082)
2004
24
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. (15505381)
2004
25
Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease. (14689286)
2004
26
Subarachnoid anesthesia in a patient with type I Gaucher disease. (12492809)
2003
27
Gaucher's disease: morphological findings in a case studied with fine needle aspiration. (12485173)
2002
28
Bone, bone marrow, and MIBI scintigraphic findings in Gaucher's disease "bone crisis". (11507294)
2001
29
Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. (10804944)
2000
30
Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. (9793273)
1998
31
Obliteration of maxillary and sphenoid sinuses in Gaucher's disease. (9227238)
1997
32
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. (9382473)
1997
33
Gaucher disease in Spanish patients: analysis of eight mutations. (7627184)
1995
34
Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. (7567322)
1995
35
Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease. (8132832)
1994
36
The selective advantage of Gaucher's disease: TB or not TB? (8002277)
1994
37
Blue nasal secretions: a presentation of Gaucher's disease and concurrent hemosiderosis. (8213785)
1993
38
Gaucher's disease in an infant diagnosed by fine needle aspiration of the liver and spleen. A case report. (1580127)
1992
39
Gaucher's disease involving the spleen. (1733488)
1992
40
Magnetic resonance imaging assessment of sacroiliac joint involvement in Gaucher's disease. (1294753)
1992
41
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. (1415223)
1992
42
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. (2060627)
1991
43
Ultrasonographic appearance of well-defined splenic space-occupying lesions in Gaucher's disease. (2184146)
1990
44
Oy oy oy--my back. An unusual cause of back pain secondary to adult Gaucher's disease. (2961999)
1987
45
Skeletal manifestations of Gaucher's disease. (3787281)
1986
46
Gaucher's disease: a case history with extensive lipid storage in the brain. (3984948)
1985
47
Bone-marrow transplantation in severe Gaucher's disease. (6377066)
1984
48
Spinal cord compression secondary to Gaucher's disease. (6701766)
1984
49
Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease. (6693432)
1984
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

Expression for genes affiliated with Gaucher's Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Gaucher's Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1glycosphingolipid4510.8PSAP, ARSA, UGCG, GLA, GBA
2miglustat45 1111.8UGCG, CHIT1, GBA
3lactosylceramide4510.8GBA, GLA, UGCG, PSAP
4mucopolysaccharide4510.8IDUA, ARSH, ARSA
5glucosylceramide45 2411.8SMPD1, PSAP, UGCG, CHIT1, GLA, GBA
6ceramides4510.8UGCG, GBA, ASAH2, SMPD1
7mannose4510.8IDUA, MRC1, ARSA, CHIT1, GLA, GBA
8mannose 6-phosphate45 2411.8IDUA, PSAP, ARSA, GLA, GBA, SMPD1
9chitin45 2411.8CHIT1, CHIA, GLA
10polysaccharide4510.8IDUA, MRC1, SCARB2, ARSA, CHIT1, GBA
11sphingosine45 11 2412.8PSAP, UGCG, GBA, ASAH2, SMPD1
12cerebroside4510.8GLA, ARSA, ARSH
13ganglioside4510.8IDUA, PSAP, ARSA, UGCG, GLA, SMPD1
14ceramide4510.8PSAP, ARSA, UGCG, GLA, GBA, ASAH2
15glycolipid4510.8PSAP, UGCG, GLA, GBA
16conduritol b epoxide4510.8PSAP, GBA
17sulfatide4510.8ARSA, ARSH, PSAP
18dihydroceramide45 2411.8SMPD1, ASAH2, GBA, UGCG
19p-nitrocatechol sulfate4510.8ARSH, ARSA
204-methylumbelliferyl-beta-d-glucoside4510.8GBA, PSAP
21hydrogen45 2411.8PSAP, ARSH, ARSA, GLA, GBA, ACP5
22galactose4510.8MRC1, UGCG, GLA, GBA
23lipid4510.8PSAP, SCARB2, ARSH, ARSA, UGCG, CHIT1
24sulfate45 2411.8IDUA, PSAP, ARSH, ARSA
25n-acetylgalactosamine 6-sulfate4510.7ARSH, ARSA
26formylglycine4510.7ARSH, ARSA
27cysteine4510.7PSAP, ARSH, ARSA, GBA, ACP5, SMPD1
28cholesterol45 29 11 2413.7PSAP, SCARB2, ARSH, UGCG, GBA, SMPD1
29ccpa45 2911.7ADA, PSAP
30arginine4510.6IDUA, PSAP, ARSH, GLA, SMPD1, ADA
31serine4510.6PSAP, ARSH, ARSA, UGCG, PKLR, GLA
32leucine4510.6GBA, GLA, ARSA, SCARB2, SMPD1
33galactosylceramide4510.6PSAP, ARSA
34aspartate4510.6ARSA, GLA, ACP5, SMPD1, ADA
35glucose4510.5PSAP, UGCG, PKLR, GLA, GBA, SMPD1
36phospholipid4510.5PSAP, GLA, GBA, SMPD1
37N-Acetyl-D-glucosamine11 2411.5CHIA, CHIT1
38glycosaminoglycan4510.4ARSA, ARSH, IDUA
39doxorubicin45 50 1112.3IDUA, UGCG, SMPD1, ADA
40calcium45 50 11 2413.1CCL18, PSAP, ARSH, GLA, GBA, THBS3

GO Terms for genes affiliated with Gaucher's Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher's Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet