GD 2
MCID: GCH004
MIFTS: 38

Gaucher Disease Type 2 (GD 2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases categories
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Summaries for Gaucher Disease Type 2

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 years of age. gaucher disease type 2 is caused by mutations in the gba gene. it is inherited in an autosomal recessive pattern. while enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards: Gaucher Disease Type 2, also known as type 2 gaucher disease, is related to gaucher disease type 3 and gaucher's disease, and has symptoms including ophthalmoplegia/ophthalmoparesis/oculomotor palsy, respiratory rhythm disorder and cough. An important gene associated with Gaucher Disease Type 2 is GBA (glucosidase, beta, acid). Affiliated tissues include liver, lung and bone marrow.

Description from OMIM:47 230900

Aliases & Classifications for Gaucher Disease Type 2

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Sources:
65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
gaucher disease type 2:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

gaucher disease type 2 65 43 49
type 2 gaucher disease 65 20 45
gaucher disease, acute neuronopathic type 43 22
gaucher disease, type ii 47 45
infantile cerebral gaucher's disease 65
gaucher disease, infantile cerebral 43
acute neuronopathic gaucher disease 49
infantile cerebral gaucher disease 49
acute cerebral gaucher's disease 65
infantile gaucher disease 65
gaucher disease, type 2 62
gd 2 43


External Ids:

OMIM47 230900
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet59 12246008
UMLS via Orphanet63 C0268250

Related Diseases for Gaucher Disease Type 2

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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 Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease type 310.2
2gaucher's disease10.1
3neuronitis10.1
4cholestasis10.1
5osteomyelitis10.1
6hydrops fetalis10.1
7neuroblastoma10.0

Graphical network of diseases related to Gaucher Disease Type 2:



Diseases related to gaucher disease type 2

Symptoms for Gaucher Disease Type 2

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

230900

Clinical features from OMIM:

230900

Symptoms:

49 (show all 15)
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • respiratory rhythm disorder
  • cough
  • strabismus/squint
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • seizures/epilepsy/absences/spasms/status epilepticus
  • abnormal eye movements/oculomotor disorder
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • early death/lethality
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • repeat respiratory infections
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • hypertonia/spasticity/rigidity/stiffness

Drugs & Therapeutics for Gaucher Disease Type 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease Type 2

Search NIH Clinical Center for Gaucher Disease Type 2

Genetic Tests for Gaucher Disease Type 2

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20GeneTests, 22GTR
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Genetic tests related to Gaucher Disease Type 2:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 2 (acute)20
2 Acute Neuronopathic Gaucher's Disease22

Anatomical Context for Gaucher Disease Type 2

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33MalaCards
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MalaCards organs/tissues related to Gaucher Disease Type 2:

33
Liver, Lung, Bone marrow, Brain, Bone, Spleen, Eye

Animal Models for Gaucher Disease Type 2 or affiliated genes

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Publications for Gaucher Disease Type 2

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52PubMed
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Articles related to Gaucher Disease Type 2:

idTitleAuthorsYear
1
Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions. (21889374)
2011
2
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. (14678774)
2003
3
Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making. (11358352)
2000
4
Enzyme therapy in Gaucher disease type 2: an autopsy case. (10223617)
1998
5
Pathological findings in Gaucher disease type 2 patients following enzyme therapy. (7672788)
1995

Variations for Gaucher Disease Type 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease Type 2:

64
id Symbol AA change Variation ID SNP ID
1GBAp.Leu483ProVAR_003321
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035
4GBAp.Asp513TyrVAR_009050

Clinvar genetic disease variations for Gaucher Disease Type 2:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.1361C> G (p.Pro454Arg)single nucleotide variantPathogenicrs121908295GRCh37Chr 1, 155205499: 155205499
3GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
4GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
5GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
6GBANM_001005741.2(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
7GBANM_001005741.2(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
8GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
9GBANM_001005741.2(GBA): c.1090G> A (p.Gly364Arg)single nucleotide variantPathogenic, Uncertain significancers121908305GRCh37Chr 1, 155206170: 155206170
10GBANM_001005741.2(GBA): c.1141T> G (p.Cys381Gly)single nucleotide variantPathogenicrs121908306GRCh37Chr 1, 155206119: 155206119
11GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
12GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantBenign, Pathogenicrs368060GRCh37Chr 1, 155205008: 155205008
13GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantBenign, Pathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease Type 2

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher Disease Type 2

Search GEO for disease gene expression data for Gaucher Disease Type 2.

Pathways for genes affiliated with Gaucher Disease Type 2

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Compounds for genes affiliated with Gaucher Disease Type 2

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GO Terms for genes affiliated with Gaucher Disease Type 2

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Products for genes affiliated with Gaucher Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease Type 2

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet