GD
MCID: GCH001
MIFTS: 83

Gaucher's Disease (GD) malady

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

Summaries for Gaucher's Disease

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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 based summary: Gaucher's Disease, also known as gaucher disease, is related to gaucher disease type 1 and gaucher disease type 2, and has symptoms including splenomegaly, anemia and hepatomegaly. An important gene associated with Gaucher's Disease is PSAP (prosaposin), and among its related pathways are Purine metabolism and Other glycan degradation. The compounds miglustat and lactosylceramide have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and liver, and related mouse phenotypes are hearing/vestibular/ear and hematopoietic system.

Genetics Home Reference:22 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:64 Gaucher\'s disease or Gaucher disease (/?o???e?/) is a genetic disease in which fatty substances... more...

Descriptions from OMIM:46 231000, 230900, 230800, 231005, 608013 610539 more

GeneReviews summary for gaucher

Aliases & Classifications for Gaucher's Disease

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Sources:
9Disease Ontology, 64Wikipedia, 22Genetics Home Reference, 61UMLS, 33MedlinePlus, 42NIH Rare Diseases, 20GeneReviews, 43NINDS, 44Novoseek, 48Orphanet, 10diseasecard, 21GeneTests, 23GTR, 11DISEASES, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Gaucher's Disease, Aliases & Descriptions:

Name: Gaucher's Disease 9 64 22 33
Gaucher Disease 9 64 20 42 22 43 44 48 61
Glucocerebrosidase Deficiency 64 20 22 48 61
Glucosylceramidase Deficiency 64 20 42 22 61
Kerasin Thesaurismosis 9 64 42 22 61
Glucosylceramide Beta-Glucosidase Deficiency 9 64 22 61
Cerebroside Lipidosis Syndrome 64 42 22 61
Glucosyl Cerebroside Lipidosis 64 42 22 61
Lipoid Histiocytosis 9 64 22 61
Glucocerebrosidosis 64 42 22 61
Kerasin Lipoidosis 64 42 22 61
Glucosylceramide Lipidosis 64 22 61
Kerasin Histiocytosis 64 22 61
 
Gaucher Disease, Type 10 21 23
Gaucher Splenomegaly 42 22 61
Acid Beta-Glucosidase Deficiency 48 61
Acute Cerebral Gaucher Disease 42 61
Gaucher Disease Type 1 48 61
Gauchers Disease 22 11
Gaucher Syndrome 22 61
Gd 64 22
Non-Cerebral Juvenile Gaucher Disease 48
Gaucher Disease, Noncerebral Juvenile 61
Anemia, Splenic, Familial 64
Lipidosis, Cerebroside 64
Sphingolipidosis 1 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:1926
NCIt39 C61268
MESH via Orphanet35 D005776
ICD10 via Orphanet27 E75.2
UMLS via Orphanet62 C0017205, C1961835

Related Diseases for Gaucher's Disease

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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 198)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 131.9CHIT1, GBA
2gaucher disease type 231.7PSAP, GBA
3gaucher disease type 331.7PSAP, GBA
4hemolytic anemia31.2PKLR
5splenomegaly31.2GBA, CHIT1
6niemann-pick disease30.7UGCG, HEXA, CHIT1
7chitotriosidase deficiency30.7CHIT1
8leukodystrophy30.6PSAP, ARSH
9krabbe disease30.6PSAP, ARSA, CHIT1
10fabry disease30.5ARSA, GBA, UGCG, CHIT1, PSAP
11osteonecrosis30.4BGLAP
12metachromatic leukodystrophy30.4ARSA, PSAP, ARSH
13tay-sachs disease30.4PSAP, HEXA
14sphingolipidosis30.4GBA, PSAP, ARSA, ASAH2
15mucopolysaccharidosis30.0ARSH, HEXA, ARSA
16dementia29.8CHIT1, GBA, HEXA, ARSA
17herpes simplex10.6
18mucolipidosis10.5ARSA
19gaucher disease perinatal lethal10.5
20lipogranulomatosis10.4ASAH2
21adenosine deaminase deficiency10.4GBA, ADA
22camurati-engelmann disease10.4BGLAP
23farber lipogranulomatosis10.4PSAP, ASAH2
24niemann-pick disease type c110.4ASAH2, PSAP
25congenital nonspherocytic hemolytic anemia10.3
26pyridoxine-refractory autosomal recessive sideroblastic anemia10.3ADA, GBA
27pseudo-gaucher disease10.3
28mucolipidosis ii10.3PSAP, ARSH
29keratitis10.3
30gaucher disease, type iiic10.3
31mucopolysaccharidosis vi10.3ARSH, ARSA
32mucosulfatidosis10.3ARSH, ARSA
33liver cirrhosis10.3
34hairy cell leukemia10.2ADA, ACP5
35renal osteodystrophy10.2BGLAP, ACP5
36hepatitis10.2
37graves' disease10.2
38nephrogenic systemic fibrosis10.2
39secondary hyperparathyroidism of renal origin10.2BGLAP, ACP5
40primary hyperparathyroidism10.2BGLAP, ACP5
41hematopoietic stem cell transplantation10.2
42hypertension10.2
43thrombocytopenia10.2
44hypersplenism10.2
45retinitis10.2
46gaucher disease, atypical, due to saposin c deficiency10.2
47gaucher disease, atypical10.2
48secondary syphilis10.2ACP5, BGLAP, GBA
49gangliosidosis10.2HEXA, PSAP
50osteoporosis, postmenopausal10.1BGLAP, ACP5

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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Clinical features from OMIM:

231000,230900,230800,231005,608013,610539

Symptoms:

 48 (show all 77)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • anaemia
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • late puberty/hypogonadism/hypogenitalism
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteosclerosis/osteopetrosis/bone condensation
  • mutiple fractures/bone fragility
  • delayed bone age
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteonecrosis/bone infarction
  • bone pain
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • strabismus/squint
  • oculomotor apraxia/dyspraxia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • acute abdominal pain/colic
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • myoclonus/fasciculations
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • anomalies of bones/skeletal anomalies
  • articular/joint pain/arthralgia
  • joint/articular deformation
  • fever/chilling
  • kyphosis
  • bruisability
  • bone marrow failure/pancytopenia
  • gingivorrhagia/gingival bleeding
  • corneal clouding/opacity/vascularisation
  • macular pigmentary anomaly/cherry-red spot
  • retinopathy
  • abnormal eye movements/oculomotor disorder
  • hearing loss/hypoacusia/deafness
  • arthrogryposis
  • ichthyosis/ichthyosiform dermatitis
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • cirrhosis
  • hepatitis/icterus/cholestasis
  • lung fibrosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pulmonary hypertension
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • cardiac valvulopathy
  • mitral valve atresia/stenosis/narrowing
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • myocardium anomalies/myocarditis
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • proteinuria
  • hematuria/microhematuria
  • dilated cerebral ventricles without hydrocephaly
  • hydrocephaly
  • cranial nerves palsy
  • tremor
  • extrapyramidal syndrome
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone tumefaction/swelling
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hypergammaglobulinemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • short stature/dwarfism/nanism
  • death in infancy
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • hydrops fetalis
  • ascitis
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • edema of the legs/lower limbs
  • leukopenia/hypoleukocytosis

HPO human phenotypes related to Gaucher's Disease:

(show all 88)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 anemia hallmark (90%) HP:0001903
3 hepatomegaly hallmark (90%) HP:0002240
4 abnormality of the genital system hallmark (90%) HP:0000078
5 splenomegaly hallmark (90%) HP:0001744
6 thrombocytopenia hallmark (90%) HP:0001873
7 hepatomegaly hallmark (90%) HP:0002240
8 bone pain hallmark (90%) HP:0002653
9 delayed skeletal maturation hallmark (90%) HP:0002750
10 recurrent fractures hallmark (90%) HP:0002757
11 osteolysis hallmark (90%) HP:0002797
12 reduced bone mineral density hallmark (90%) HP:0004349
13 aseptic necrosis hallmark (90%) HP:0010885
14 increased bone mineral density hallmark (90%) HP:0011001
15 abnormality of the genital system typical (50%) HP:0000078
16 strabismus typical (50%) HP:0000486
17 oculomotor apraxia typical (50%) HP:0000657
18 behavioral abnormality typical (50%) HP:0000708
19 seizures typical (50%) HP:0001250
20 thrombocytopenia typical (50%) HP:0001873
21 abdominal pain typical (50%) HP:0002027
22 incoordination typical (50%) HP:0002311
23 developmental regression typical (50%) HP:0002376
24 bone pain typical (50%) HP:0002653
25 delayed skeletal maturation typical (50%) HP:0002750
26 recurrent fractures typical (50%) HP:0002757
27 arthralgia typical (50%) HP:0002829
28 involuntary movements typical (50%) HP:0004305
29 reduced bone mineral density typical (50%) HP:0004349
30 abnormality of temperature regulation typical (50%) HP:0004370
31 feeding difficulties in infancy typical (50%) HP:0008872
32 aseptic necrosis typical (50%) HP:0010885
33 gingival bleeding typical (50%) HP:0000225
34 bruising susceptibility typical (50%) HP:0000978
35 anemia typical (50%) HP:0001903
36 abdominal pain typical (50%) HP:0002027
37 kyphosis typical (50%) HP:0002808
38 bone marrow hypocellularity typical (50%) HP:0005528
39 proteinuria occasional (7.5%) HP:0000093
40 gingival bleeding occasional (7.5%) HP:0000225
41 hydrocephalus occasional (7.5%) HP:0000238
42 hearing impairment occasional (7.5%) HP:0000365
43 retinopathy occasional (7.5%) HP:0000488
44 hematuria occasional (7.5%) HP:0000790
45 abnormality of skin pigmentation occasional (7.5%) HP:0001000
46 abnormality of the macula occasional (7.5%) HP:0001103
47 muscular hypotonia occasional (7.5%) HP:0001252
48 tremor occasional (7.5%) HP:0001337
49 limitation of joint mobility occasional (7.5%) HP:0001376
50 cirrhosis occasional (7.5%) HP:0001394
51 abnormality of the myocardium occasional (7.5%) HP:0001637
52 abnormality of the aortic valve occasional (7.5%) HP:0001646
53 abnormality of the pericardium occasional (7.5%) HP:0001697
54 mitral stenosis occasional (7.5%) HP:0001718
55 hydrops fetalis occasional (7.5%) HP:0001789
56 abnormality of coagulation occasional (7.5%) HP:0001928
57 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
58 restrictive lung disease occasional (7.5%) HP:0002091
59 pulmonary hypertension occasional (7.5%) HP:0002092
60 respiratory insufficiency occasional (7.5%) HP:0002093
61 ventriculomegaly occasional (7.5%) HP:0002119
62 pulmonary fibrosis occasional (7.5%) HP:0002206
63 osteomyelitis occasional (7.5%) HP:0002754
64 osteoarthritis occasional (7.5%) HP:0002758
65 osteolysis occasional (7.5%) HP:0002797
66 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
67 short stature occasional (7.5%) HP:0004322
68 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
69 bone marrow hypocellularity occasional (7.5%) HP:0005528
70 cranial nerve paralysis occasional (7.5%) HP:0006824
71 opacification of the corneal stroma occasional (7.5%) HP:0007759
72 ichthyosis occasional (7.5%) HP:0008064
73 hypergammaglobulinemia occasional (7.5%) HP:0010702
74 increased bone mineral density occasional (7.5%) HP:0011001
75 proteinuria occasional (7.5%) HP:0000093
76 hematuria occasional (7.5%) HP:0000790
77 biliary tract abnormality occasional (7.5%) HP:0001080
78 cirrhosis occasional (7.5%) HP:0001394
79 ascites occasional (7.5%) HP:0001541
80 abnormality of the myocardium occasional (7.5%) HP:0001637
81 sudden cardiac death occasional (7.5%) HP:0001645
82 abnormality of the pericardium occasional (7.5%) HP:0001697
83 leukopenia occasional (7.5%) HP:0001882
84 restrictive lung disease occasional (7.5%) HP:0002091
85 pulmonary hypertension occasional (7.5%) HP:0002092
86 osteoarthritis occasional (7.5%) HP:0002758
87 hypergammaglobulinemia occasional (7.5%) HP:0010702
88 edema of the lower limbs occasional (7.5%) HP:0010741

Drugs & Therapeutics for Gaucher's Disease

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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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Genetic tests related to Gaucher's Disease:

id Genetic test Affiliating Genes
1 Gaucher Disease21 23 GBA

Anatomical Context for Gaucher's Disease

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MalaCards organs/tissues related to Gaucher's Disease:

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

Animal Models for Gaucher's Disease or affiliated genes

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MGI Mouse Phenotypes related to Gaucher's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9ARSA, PSAP, HEXA, SCARB2
2MP:00053978.4GBA, MRC1, ADA, PSAP, ACP5, PKLR
3MP:00053878.4GBA, MRC1, ADA, CHIT1, PSAP, ACP5
4MP:00053678.1UGCG, SCARB2, HEXA, ADA, PSAP
5MP:00107687.4GBA, MRC1, UGCG, SCARB2, HEXA, ADA
6MP:00053766.8ARSA, GBA, MRC1, UGCG, SCARB2, HEXA

Publications for Gaucher's Disease

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Articles related to Gaucher's Disease:

(show top 50)    (show all 521)
idTitleAuthorsYear
1
RIPK3 as a potential therapeutic target for Gaucher's disease. (24441827)
2014
2
Gaucher's disease: rare presentation of a rare disease. (22914376)
2013
3
Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings. (22988312)
2012
4
Taliglucerase alfa for the treatment of Gaucher's disease. (22916340)
2012
5
Cor pulmonale in a case of infantile Gaucher's disease. (21731876)
2011
6
Velaglucerase (Vpriv) for Gaucher's disease. (20508578)
2010
7
Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease. (20093936)
2010
8
Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. (19177047)
2009
9
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher's disease. (17976508)
2008
10
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
11
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. (15794178)
2005
12
Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis. (16213406)
2005
13
Bone crisis in stable Gaucher's disease. (16299062)
2005
14
Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease. (11924537)
2002
15
Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood. (11118268)
2001
16
Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers). (11532627)
2001
17
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
18
Gaucher's disease. Enzyme therapy is not enough. (11784578)
2001
19
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. (11044944)
2000
20
Gaucher's disease: a review for the internist and hepatologist. (11020862)
2000
21
MRI in acute neuropathic Gaucher's disease. (10663472)
2000
22
Cytokines in Gaucher's disease. (10400826)
1999
23
Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. (9793273)
1998
24
Loss of vision in Gaucher's disease and its reversal by enzyme-replacement therapy. (9583981)
1998
25
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease. (9314241)
1997
26
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease. (9414262)
1997
27
Gaucher's disease: molecular, genetic and enzymological aspects. (9497856)
1997
28
Bone involvement in Gaucher's disease: 'bone crisis' or disease complication? (8737728)
1996
29
Gaucher's disease in pregnancy. (8873155)
1996
30
MR imaging of patients with type 1 Gaucher's disease: relationship between bone and visceral changes. (7645477)
1995
31
Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. (7996964)
1994
32
Gaucher's disease with haematological complications. (8444599)
1993
33
Clinical heterogeneity among patients with Gaucher's disease. (8433471)
1993
34
Treatment of Gaucher's disease. (8479496)
1993
35
Gene transfer and bone marrow transplantation with special reference to Gaucher's disease. (8448536)
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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Clinvar genetic disease variations for Gaucher's Disease:

7 (show all 47)
id Gene Name Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.1154G> T (p.Cys385Phe)single nucleotide variantPathogenicrs121918105GRCh37Chr 10, 73579518: 73579518
2PSAPNM_001042465.1(PSAP): c.1153T> G (p.Cys385Gly)single nucleotide variantPathogenicrs121918108GRCh37Chr 10, 73579519: 73579519
3PSAPNM_001042465.1(PSAP): c.1297C> T (p.Gln433Ter)single nucleotide variantPathogenicrs121918109GRCh37Chr 10, 73579284: 73579284
4PSAPNM_001042465.1(PSAP): c.1055T> C (p.Leu352Pro)single nucleotide variantPathogenicrs121918110GRCh37Chr 10, 73579617: 73579617
5GBANM_001005741.2(GBA): c.1505G> A (p.Arg502His)single nucleotide variantPathogenicrs80356772GRCh37Chr 1, 155204986: 155204986
6GBANM_001005741.2(GBA): c.703T> C (p.Ser235Pro)single nucleotide variantPathogenicrs1064644GRCh37Chr 1, 155207983: 155207983
7GBANM_001005741.2(GBA): c.93_94insG (p.Gln32Alafs)insertionPathogenicrs80356760GRCh37Chr 1, 155210442: 155210443
8GBANM_001005741.2(GBA): c.1226A> C (p.Asn409Thr)single nucleotide variantPathogenicrs76763715GRCh37Chr 1, 155205634: 155205634
9GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
10GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
11GBANM_001005741.2(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
12GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
13GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
14GBANM_001005741.2(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
15GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
16GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
17GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
18GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)single nucleotide variantPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
19GBANM_001005741.2(GBA): c.535G> C (p.Asp179His)single nucleotide variantPathogenicrs147138516GRCh37Chr 1, 155208361: 155208361
20GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)single nucleotide variantPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
21GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
22GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210451: 155210452
23GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
24GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)single nucleotide variantPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
25GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
26GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
27GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)single nucleotide variantPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
28GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)single nucleotide variantPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
29GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)single nucleotide variantPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
30GBANM_001005741.2(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs80356773GRCh37Chr 1, 155204793: 155204793
31GBANM_001005741.2(GBA): c.1263_1317del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205543: 155205597
32GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)single nucleotide variantPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
33GBANM_001005741.2(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
34GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)single nucleotide variantPathogenicrs121908303GRCh37Chr 1, 155207368: 155207368
35GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)single nucleotide variantPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
36GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)single nucleotide variantPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
37GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)single nucleotide variantPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
38GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)single nucleotide variantPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
39GBANM_001005741.2(GBA): c.1174C> G (p.Arg392Gly)single nucleotide variantPathogenicrs121908308GRCh37Chr 1, 155206086: 155206086
40GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
41GBANM_001005741.2(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
42GBANM_001005741.2(GBA): c.509G> T (p.Arg170Leu)single nucleotide variantPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
43GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
44GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)single nucleotide variantPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
45GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
46GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
47GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher's Disease

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Expression patterns in normal tissues for genes affiliated with Gaucher's Disease

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Pathways for genes affiliated with Gaucher's Disease

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism59
purine deoxyribonucleosides salvage37
9.6ADA, ACP5, PKLR
29.4HEXA, GBA
3
Show member pathways
9.2ARSA, ARSH, BGLAP
4
Show member pathways
colanic acid building blocks biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
8.8CHIA, HEXA, CHIT1
58.3ARSA, ACP5, PSAP, HEXA, SCARB2, GBA
6
Show member pathways
7.1UGCG, ASAH2, PSAP, ARSH, ARSA, GBA
7
Show member pathways
6.3ADA, ACP5, PKLR, ARSH, ARSA, GBA3

Compounds for genes affiliated with Gaucher's Disease

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Sources:
44Novoseek, 12DrugBank, 25HMDB
See all sources

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

(show top 50)    (show all 164)
idCompoundScoreTop Affiliating Genes
1miglustat44 1210.9CHIT1, GBA, UGCG
2lactosylceramide449.8PSAP, GBA, UGCG
3p-nitrocatechol sulfate449.7ARSH, ARSA
4glycosphingolipid449.6UGCG, GBA, PSAP, ARSA
5sulfatide449.6ARSH, ARSA, PSAP
6Galactosylceramide (d18:1/24:1(15Z))259.4UGCG, GBA, ASAH2, ARSA
7Galactosylceramide (d18:1/26:1(17Z))259.4ARSA, ASAH2, UGCG, GBA
8Galactosylceramide (d18:1/20:0)259.4ASAH2, ARSA, GBA, UGCG
9Galactosylceramide (d18:1/18:1(9Z))259.4GBA, UGCG, ASAH2, ARSA
10Galactosylceramide (d18:1/18:0)259.4GBA, UGCG, ARSA, ASAH2
11Galactosylceramide (d18:1/16:0)259.4GBA, ARSA, ASAH2, UGCG
12glucosylceramide44 2510.4UGCG, ASAH2, PSAP, GBA, CHIT1
13Galactosylceramide (d18:1/22:0)259.4ARSA, ASAH2, GBA, UGCG
14polysaccharide449.3CHIT1, SCARB2, MRC1, GBA, ARSA
15cerebroside449.3HEXA, ARSH, ARSA
16ceramides449.3ASAH2, GBA, UGCG
173-O-Sulfogalactosylceramide (d18:1/24:0)259.3UGCG, ASAH2, GBA, PSAP, ARSA
18ceramide449.2ARSA, PSAP, ASAH2, GBA, UGCG
19galactose449.2UGCG, GBA3, GBA, MRC1
20tibolone449.2ACP5, ARSH, BGLAP
21glycolipid449.1HEXA, UGCG, GBA, PSAP
22N-Acetyl-D-glucosamine25 1210.0CHIA, HEXA, CHIT1
23mannose449.0ARSA, GBA, MRC1, HEXA, CHIT1
24Tetrahexosylceramide (d18:1/12:0)259.0GBA, ASAH2, HEXA, UGCG
25Trihexosylceramide (d18:1/25:0)259.0HEXA, ASAH2, UGCG, GBA
26Trihexosylceramide (d18:1/24:1(15Z))259.0GBA, UGCG, HEXA, ASAH2
27Trihexosylceramide (d18:1/9Z-18:1)259.0GBA, UGCG, HEXA, ASAH2
28Trihexosylceramide (d18:1/12:0)259.0ASAH2, HEXA, UGCG, GBA
29Trihexosylceramide (d18:1/26:1(17Z))258.9GBA, UGCG, HEXA, ASAH2
30mannose 6-phosphate44 259.9ARSA, GBA, HEXA, PSAP
31Trihexosylceramide (d18:1/24:0)258.9HEXA, GBA, UGCG, ASAH2
32Trihexosylceramide (d18:1/20:0)258.9UGCG, ASAH2, HEXA, GBA
33Trihexosylceramide (d18:1/22:0)258.9GBA, UGCG, ASAH2, HEXA
34Trihexosylceramide (d18:1/18:0)258.9GBA, UGCG, HEXA, ASAH2
35Trihexosylceramide (d18:1/16:0)258.9ASAH2, HEXA, UGCG, GBA
36Lactosylceramide (d18:1/22:0)258.9HEXA, ASAH2, UGCG, GBA
37Lactosylceramide (d18:1/18:0)258.9GBA, HEXA, ASAH2, UGCG
38Lactosylceramide (d18:1/24:0)258.9ASAH2, HEXA, UGCG, GBA
39Lactosylceramide (d18:1/26:0)258.9HEXA, ASAH2, UGCG, GBA
40Lactosylceramide (d18:1/25:0)258.9GBA, UGCG, HEXA, ASAH2
41Lactosylceramide (d18:1/26:1(17Z))258.8UGCG, GBA, ASAH2, HEXA
42sphingosine44 25 1210.8PSAP, ASAH2, UGCG, GBA
43ganglioside448.8ARSA, PSAP, HEXA, UGCG
44Lactosylceramide (d18:1/12:0)258.8ASAH2, HEXA, UGCG, GBA
45Lactosylceramide (d18:1/16:0)258.8ASAH2, UGCG, GBA, HEXA
46Lactosylceramide (d18:1/24:1(15Z))258.8ASAH2, HEXA, UGCG, GBA
47cysteine448.4GBA, ARSA, BGLAP, ADA, PSAP, ACP5
48Water257.7GBA3, GBA, HEXA, ADA, CHIT1, CHIA
49serine447.2UGCG, BGLAP, ARSA, ARSH, PKLR, HEXA
50lipid446.6HEXA, GBA, UGCG, SCARB2, CHIT1, ASAH2

GO Terms for genes affiliated with Gaucher's Disease

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.2CHIT1, ACP5, ARSA, ADA
2lysosomal lumenGO:0432028.6GBA, SCARB2, HEXA, PSAP, ARSA
3extracellular spaceGO:0056158.0ARSA, BGLAP, PSAP, CHIA, CHIT1, ADA
4integral component of membraneGO:0160217.7ARSA, UGCG, SCARB2, ASAH2, PSAP, MTX1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1polysaccharide catabolic processGO:0002729.8CHIT1, CHIA
2negative regulation of inflammatory responseGO:0507289.7GBA, ADA, ACP5
3response to testosteroneGO:0335749.7BGLAP, GBA
4chitin catabolic processGO:0060329.6CHIA, CHIT1
5response to pHGO:0092689.6ARSA, GBA
6response to estrogenGO:0436279.5ARSA, BGLAP, GBA
7carbohydrate metabolic processGO:0059758.6GBA3, GBA, HEXA, PKLR
8sphingolipid metabolic processGO:0066657.3ARSA, GBA3, ARSH, PSAP, ASAH2, HEXA
9glycosphingolipid metabolic processGO:0066877.3GBA3, GBA, UGCG, HEXA, ASAH2, PSAP
10small molecule metabolic processGO:0442816.4GBA3, GBA, UGCG, HEXA, ADA, ASAH2

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:0040659.7ARSA, ARSH
2chitin bindingGO:0080619.5CHIA, CHIT1
3chitinase activityGO:0045689.3CHIA, CHIT1

Products for genes affiliated with Gaucher's Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
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Sources for Gaucher's Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet