MCID: GCH001
MIFTS: 70

Gaucher's Disease malady

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

Summaries for Gaucher's Disease

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MedlinePlus:32 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 iii and gaucher disease, type ii, 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 Lysosome. The compounds conduritol b epoxide and 4-methylumbelliferyl-beta-d-glucoside have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related mouse phenotypes are hematopoietic system and immune system.

Disease Ontology:9 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

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:41 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:42 Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases.

Wikipedia:63 Gaucher\'s disease or Gaucher disease (/?o???e?/) is a genetic disease in which fatty substances... more...

GeneReviews summary for gaucher

Aliases & Classifications for Gaucher's Disease

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Sources:
9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 3CDC, 60UMLS, 38NCIt, 55SNOMED-CT, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Gaucher's Disease, Aliases & Descriptions:

Name: Gaucher's Disease 9 63 21 32
Gaucher Disease 9 63 19 41 21 42 43 47 60
Glucocerebrosidase Deficiency 63 19 41 21 47
Glucosylceramidase Deficiency 63 19 41 21
Kerasin Thesaurismosis 9 63 41 21
Lipoid Histiocytosis 9 63 21 60
Glucosylceramide Beta-Glucosidase Deficiency 9 63 21
Acid Beta-Glucosidase Deficiency 9 41 47
Cerebroside Lipidosis Syndrome 63 41 21
Glucosyl Cerebroside Lipidosis 63 41 21
Glucocerebrosidosis 63 41 21
Kerasin Lipoidosis 63 41 21
Gauchers Disease 21 11 22
Gd 63 21 3
 
Acute Cerebral Gaucher Disease 41 60
Glucosylceramide Lipidosis 63 21
Gaucher Disease, Type 10 20
Kerasin Histiocytosis 63 21
Gaucher Splenomegaly 41 21
Glocucerebrosidase Deficiency 9
Anemia, Splenic, Familial 63
Gaucher Disease, Type 1 60
Gaucher Disease, Type 2 60
Glucosidase, Acid Beta 10
Lipidosis, Cerebroside 63
Sphingolipidosis 1 41
Gaucher Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
gaucher disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages


External Ids:

Disease Ontology9 DOID:1926
NCIt38 C61268
ICD9CM27 272.7
Orphanet47 355
MESH via Orphanet34 D005776
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0017205

Related Diseases for Gaucher's Disease

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Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

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

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type iii31.7PSAP, GBA
2gaucher disease, type ii31.6PSAP, GBA
3gaucher disease, type i31.3CHIT1, GBA
4splenomegaly31.2GBA, CHIT1
5hemolytic anemia31.2PKLR
6niemann-pick disease30.8CHIT1, PSAP, ASAH2
7chitotriosidase deficiency30.7CHIT1
8tay-sachs disease30.6ARSA, PSAP
9fabry disease30.6ARSA, PSAP, CHIT1, GBA
10leukodystrophy30.5PSAP, ARSH
11krabbe disease30.5ARSA, PSAP, CHIT1
12mucopolysaccharidosis30.3ARSA, ARSH
13osteonecrosis30.3BGLAP
14metachromatic leukodystrophy30.3PSAP, ARSA, ARSH
15sphingolipidosis30.2ASAH2, ARSA, PSAP, GBA
16dementia30.2GBA, CHIT1, ARSA
17osteoporosis30.1BGLAP, ACP5
18herpes simplex10.7
19gaucher disease, perinatal lethal10.5
20mucolipidosis10.4ARSA
21lipogranulomatosis10.4ASAH2
22adenosine deaminase deficiency10.4GBA, ADA
23gaucher disease, atypical10.4
24gangliosidosis gm110.3PSAP, ARSA
25congenital nonspherocytic hemolytic anemia10.3
26pseudo-gaucher disease10.3
27gaucher disease - ophthalmoplegia - cardiovascular calcification10.3
28farber lipogranulomatosis10.3PSAP, ASAH2
29anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3ADA, GBA
30niemann-pick disease, type c110.3ASAH2, PSAP
31keratitis10.3
32camurati-engelmann disease10.3BGLAP
33liver cirrhosis10.3
34gaucher disease, type iiic10.2
35mucolipidosis ii alpha/beta10.2PSAP, ARSH
36hepatitis10.2
37graves' disease10.2
38adenoma10.2
39nephrogenic systemic fibrosis10.2
40endolymphatic hydrops10.2
41hcl-v10.2ADA, ACP5
42pick disease10.2
43hematopoietic stem cell transplantation10.2
44thrombocytopenia10.2
45neuronitis10.2
46hypersplenism10.2
47retinitis10.2
48gaucher disease, cardiovascular form10.2
49mucopolysaccharidosis type vi10.2ARSH, ARSA
50multiple sulfatase deficiency10.2ARSA, ARSH

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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Symptoms:

 47 (show all 70)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • anaemia
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • strabismus/squint
  • oculomotor apraxia/dyspraxia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • acute abdominal pain/colic
  • late puberty/hypogonadism/hypogenitalism
  • 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
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • delayed bone age
  • osteonecrosis/bone infarction
  • bone pain
  • articular/joint pain/arthralgia
  • joint/articular deformation
  • thrombocytopenia/thrombopenia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fever/chilling
  • 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
  • osteosclerosis/osteopetrosis/bone condensation
  • osteolysis/osteoclasia/bone destruction/erosions
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone tumefaction/swelling
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hypergammaglobulinemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • bone marrow failure/pancytopenia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • gingivorrhagia/gingival bleeding
  • short stature/dwarfism/nanism
  • death in infancy
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • hydrops fetalis

HPO human phenotypes related to Gaucher's Disease:

(show all 57)
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 typical (50%) HP:0000078
5 strabismus typical (50%) HP:0000486
6 oculomotor apraxia typical (50%) HP:0000657
7 behavioral abnormality typical (50%) HP:0000708
8 seizures typical (50%) HP:0001250
9 thrombocytopenia typical (50%) HP:0001873
10 abdominal pain typical (50%) HP:0002027
11 incoordination typical (50%) HP:0002311
12 developmental regression typical (50%) HP:0002376
13 bone pain typical (50%) HP:0002653
14 delayed skeletal maturation typical (50%) HP:0002750
15 recurrent fractures typical (50%) HP:0002757
16 arthralgia typical (50%) HP:0002829
17 involuntary movements typical (50%) HP:0004305
18 reduced bone mineral density typical (50%) HP:0004349
19 abnormality of temperature regulation typical (50%) HP:0004370
20 feeding difficulties in infancy typical (50%) HP:0008872
21 aseptic necrosis typical (50%) HP:0010885
22 proteinuria occasional (7.5%) HP:0000093
23 gingival bleeding occasional (7.5%) HP:0000225
24 hydrocephalus occasional (7.5%) HP:0000238
25 hearing impairment occasional (7.5%) HP:0000365
26 retinopathy occasional (7.5%) HP:0000488
27 hematuria occasional (7.5%) HP:0000790
28 abnormality of skin pigmentation occasional (7.5%) HP:0001000
29 abnormality of the macula occasional (7.5%) HP:0001103
30 muscular hypotonia occasional (7.5%) HP:0001252
31 tremor occasional (7.5%) HP:0001337
32 limitation of joint mobility occasional (7.5%) HP:0001376
33 cirrhosis occasional (7.5%) HP:0001394
34 abnormality of the myocardium occasional (7.5%) HP:0001637
35 abnormality of the aortic valve occasional (7.5%) HP:0001646
36 abnormality of the pericardium occasional (7.5%) HP:0001697
37 mitral stenosis occasional (7.5%) HP:0001718
38 hydrops fetalis occasional (7.5%) HP:0001789
39 abnormality of coagulation occasional (7.5%) HP:0001928
40 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
41 restrictive lung disease occasional (7.5%) HP:0002091
42 pulmonary hypertension occasional (7.5%) HP:0002092
43 respiratory insufficiency occasional (7.5%) HP:0002093
44 ventriculomegaly occasional (7.5%) HP:0002119
45 pulmonary fibrosis occasional (7.5%) HP:0002206
46 osteomyelitis occasional (7.5%) HP:0002754
47 osteoarthritis occasional (7.5%) HP:0002758
48 osteolysis occasional (7.5%) HP:0002797
49 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
50 short stature occasional (7.5%) HP:0004322
51 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
52 bone marrow hypocellularity occasional (7.5%) HP:0005528
53 cranial nerve paralysis occasional (7.5%) HP:0006824
54 opacification of the corneal stroma occasional (7.5%) HP:0007759
55 ichthyosis occasional (7.5%) HP:0008064
56 hypergammaglobulinemia occasional (7.5%) HP:0010702
57 increased bone mineral density occasional (7.5%) HP:0011001

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 Disease20 22 GBA

Anatomical Context for Gaucher's Disease

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MalaCards organs/tissues related to Gaucher's Disease:

31
Bone, Liver, Spleen, Bone marrow, Lung, Brain, Kidney, Skin, Eye, Testes, Spinal cord, B cells, Heart, Smooth muscle, Colon, Breast, Myeloid, Endothelial, Tongue, Neutrophil

Animal Models for Gaucher's Disease or affiliated genes

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MGI Mouse Phenotypes related to Gaucher's Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2MRC1, ADA, PSAP, ACP5, PKLR, ARSA
2MP:00053877.9PSAP, GBA, MRC1, ADA, CHIT1, ACP5
3MP:00053767.6ARSA, GBA, PKLR, MTX1, PSAP, ASAH2

Publications for Gaucher's Disease

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Articles related to Gaucher's Disease:

(show top 50)    (show all 523)
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
Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood. (11118268)
2001
15
Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers). (11532627)
2001
16
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. (11148530)
2001
17
Gaucher's disease. Enzyme therapy is not enough. (11784578)
2001
18
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. (11044944)
2000
19
Gaucher's disease: a review for the internist and hepatologist. (11020862)
2000
20
MRI in acute neuropathic Gaucher's disease. (10663472)
2000
21
Cytokines in Gaucher's disease. (10400826)
1999
22
Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease. (9793273)
1998
23
Loss of vision in Gaucher's disease and its reversal by enzyme-replacement therapy. (9583981)
1998
24
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease. (9314241)
1997
25
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease. (9414262)
1997
26
Gaucher's disease: molecular, genetic and enzymological aspects. (9497856)
1997
27
Bone involvement in Gaucher's disease: 'bone crisis' or disease complication? (8737728)
1996
28
Gaucher's disease in pregnancy. (8873155)
1996
29
MR imaging of patients with type 1 Gaucher's disease: relationship between bone and visceral changes. (7645477)
1995
30
Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. (7996964)
1994
31
Gaucher's disease with haematological complications. (8444599)
1993
32
Clinical heterogeneity among patients with Gaucher's disease. (8433471)
1993
33
Treatment of Gaucher's disease. (8479496)
1993
34
Gene transfer and bone marrow transplantation with special reference to Gaucher's disease. (8448536)
1993
35
Gaucher's disease associated with chronic lymphocytic leukemia. (8465231)
1993
36
Gaucher's disease. Plain radiography, US, CT and MR diagnosis of lungs, bone and liver lesions. (1594320)
1992
37
Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease. Two case reports and a review of the literature. (1572115)
1992
38
Neurologic complications of nonneuronopathic Gaucher's disease. (1845033)
1991
39
Enzyme-replacement therapy for Gaucher's disease. (1944489)
1991
40
Use of 4-heptylumbelliferyl-beta-D-glucoside to identify Gaucher's disease heterozygotes. (2515009)
1989
41
Richter's transformation of lymphoma complicating Gaucher's disease. (2789215)
1989
42
Gaucher's disease. (3162200)
1988
43
Partial splenectomy for Gaucher's disease. (3592812)
1987
44
Sucrose gradient analysis of phospholipid-activated beta-glucosidase in type 1 and type 2 Gaucher's disease. (3920967)
1985
45
Association of dysgerminoma and gaucher's disease. (6821841)
1983
46
Coexistence of Gaucher's disease and multiple myeloma. (7138174)
1982
47
Multiple myeloma complicating Gaucher's disease. (7064469)
1982
48
Hemorrhagic bursitis and bone crises in chronic adult Gaucher's disease: a case report. (7138606)
1982
49
Brain glucocerebrosidase in Gaucher's disease. (6810854)
1982
50
Hypersplenism, an unusual case of splenic pancytopenia secondary to Gaucher's disease in an adult. (14824747)
1951

Variations for Gaucher's Disease

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Clinvar genetic disease variations for Gaucher's Disease:

6 (show all 47)
id Gene Variation 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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Search GEO for disease gene expression data for Gaucher's Disease.

Pathways for genes affiliated with Gaucher's Disease

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Compounds for genes affiliated with Gaucher's Disease

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Compounds related to Gaucher's Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1conduritol b epoxide4310.4PSAP, GBA
24-methylumbelliferyl-beta-d-glucoside4310.4GBA, PSAP
3ccpa43 2811.3ADA, PSAP
4miglustat43 1211.3CHIT1, GBA
5lactosylceramide4310.1GBA, PSAP
61,4-beta-D-Glucan2410.1GBA, GBA3
7galactosylceramide4310.1ARSA, PSAP
8cellobiose43 2411.1GBA, GBA3
9chitin43 2411.0CHIT1, CHIA
10glycosphingolipid4310.0ARSA, PSAP, GBA
11ogt 21155910.0GBA, GBA3
121-deoxymannojirimycin hydrochloride599.9GBA, GBA3
13mannose 6-phosphate43 2410.9PSAP, ARSA, GBA
14p-nitrocatechol sulfate439.9ARSA, ARSH
15n-acetylgalactosamine 6-sulfate439.9ARSH, ARSA
16formylglycine439.8ARSA, ARSH
17mucopolysaccharide439.8ARSH, ARSA
18sphingosine43 24 1211.8GBA, ASAH2, PSAP
19cerebroside439.8ARSA, ARSH
20kifunensine59 43 1211.8GBA3, GBA
21Galactosylceramide (d18:1/16:0)249.8ARSA, ASAH2, GBA
22Galactosylceramide (d18:1/20:0)249.8ARSA, GBA, ASAH2
23Galactosylceramide (d18:1/24:1(15Z))249.7ARSA, ASAH2, GBA
24Galactosylceramide (d18:1/22:0)249.7ASAH2, GBA, ARSA
25Galactosylceramide (d18:1/26:1(17Z))249.7ARSA, ASAH2, GBA
26Galactosylceramide (d18:1/18:1(9Z))249.7GBA, ARSA, ASAH2
27Galactosylceramide (d18:1/18:0)249.7ASAH2, GBA, ARSA
28glucosylceramide43 2410.7PSAP, ASAH2, GBA, CHIT1
29N-Acetyl-D-glucosamine24 1210.7CHIT1, CHIA
30galactose439.7GBA, MRC1, GBA3
31sulfatide439.6ARSA, ARSH, PSAP
32mannose439.6GBA, MRC1, CHIT1, ARSA
33Alpha-D-Glucose249.6GBA3, GBA
34polysaccharide439.6CHIT1, MRC1, ARSA, GBA
353-O-Sulfogalactosylceramide (d18:1/24:0)249.6ARSA, PSAP, GBA, ASAH2
36ceramide439.5PSAP, ASAH2, GBA, ARSA
37tartrate439.5ACP5, BGLAP
38sulfate43 2410.5PSAP, ARSH, ARSA
39miglitol59 43 1211.4GBA, GBA3
40carbohydrates439.4ARSH, MRC1, PKLR
41clodronate43 49 1211.3BGLAP, ACP5
42tibolone439.1BGLAP, ACP5, ARSH
43hydrogen43 2410.0ARSA, GBA, PSAP, ACP5, ARSH
44estrone43 28 24 1211.9ARSA, ARSH, BGLAP
45creatinine438.8BGLAP, ACP5, ARSA, ADA
46aspartate438.7ACP5, ADA, BGLAP, ARSA
47Water248.3CHIT1, CHIA, ACP5, ARSA, GBA3, GBA
48serine438.1BGLAP, PKLR, ARSH, GBA, PSAP, ARSA
49cysteine437.9PSAP, ARSH, ACP5, ADA, ARSA, BGLAP
50lipid437.8GBA, CHIA, ASAH2, PSAP, ACP5, ARSH

GO Terms for genes affiliated with Gaucher's Disease

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Cellular components related to Gaucher's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.6ARSA, PSAP, GBA
2lysosomeGO:00057649.0ARSA, ADA, CHIT1, ACP5
3extracellular spaceGO:00056157.6ARSA, BGLAP, ADA, CHIT1, CHIA, PSAP

Biological processes related to Gaucher's Disease according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1polysaccharide catabolic processGO:00002729.8CHIT1, CHIA
2chitin catabolic processGO:00060329.6CHIT1, CHIA
3negative regulation of inflammatory responseGO:00507289.6ACP5, ADA, GBA
4response to pHGO:00092689.5ARSA, GBA
5response to testosteroneGO:00335749.4GBA, BGLAP
6response to estrogenGO:00436279.1ARSA, BGLAP, GBA
7glycosphingolipid metabolic processGO:00066878.2GBA, GBA3, ASAH2, PSAP, ARSH, ARSA
8sphingolipid metabolic processGO:00066658.1GBA3, GBA, ASAH2, PSAP, ARSH, ARSA
9small molecule metabolic processGO:00442817.1ASAH2, ACP5, ARSA, PKLR, ARSH, ADA

Molecular functions related to Gaucher's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chitin bindingGO:00080619.6CHIA, CHIT1
2arylsulfatase activityGO:00040659.4ARSA, ARSH
3chitinase activityGO:00045689.4CHIA, CHIT1

Products for genes affiliated with Gaucher's Disease

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  • Antibodies
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Sources for Gaucher's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet