MCID: GCH013
MIFTS: 16

Gaucher Disease, Type Iiic malady

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

Aliases & Classifications for Gaucher Disease, Type Iiic

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Gaucher Disease, Type Iiic, Aliases & Descriptions:

Name: Gaucher Disease, Type Iiic 45 10


Classifications:



External Ids:

OMIM45 231005

Summaries for Gaucher Disease, Type Iiic

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MalaCards based summary: Gaucher Disease, Type Iiic is related to gaucher disease, type i and gaucher disease, type iii, and has symptoms including autosomal recessive inheritance, hydrocephalus and strabismus. An important gene associated with Gaucher Disease, Type Iiic is GBA (glucosidase, beta, acid).

Description from OMIM:45 231005

Related Diseases for Gaucher Disease, Type Iiic

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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 Disease, Type Iiic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type i10.3
2gaucher disease, type iii10.3

Symptoms for Gaucher Disease, Type Iiic

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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

HPO human phenotypes related to Gaucher Disease, Type Iiic:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hydrocephalus HP:0000238
3 strabismus HP:0000486
4 supranuclear ophthalmoplegia HP:0000623
5 horizontal nystagmus HP:0000666
6 seizures HP:0001250
7 cardiomegaly HP:0001640
8 splenomegaly HP:0001744
9 pes cavus HP:0001761
10 pancytopenia HP:0001876
11 hepatomegaly HP:0002240
12 calcification of the aorta HP:0004963
13 calcific aortic valve stenosis HP:0005173
14 opacification of the corneal stroma HP:0007759
15 slowed horizontal saccades HP:0007885
16 hypometric horizontal saccades HP:0007975
17 calcific mitral stenosis HP:0200129

Drugs & Therapeutics for Gaucher Disease, Type Iiic

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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type Iiic

Search NIH Clinical Center for Gaucher Disease, Type Iiic

Genetic Tests for Gaucher Disease, Type Iiic

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Anatomical Context for Gaucher Disease, Type Iiic

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Animal Models for Gaucher Disease, Type Iiic or affiliated genes

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Publications for Gaucher Disease, Type Iiic

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Variations for Gaucher Disease, Type Iiic

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Clinvar genetic disease variations for Gaucher Disease, Type Iiic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
2GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher Disease, Type Iiic

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Search GEO for disease gene expression data for Gaucher Disease, Type Iiic.

Pathways for genes affiliated with Gaucher Disease, Type Iiic

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Compounds for genes affiliated with Gaucher Disease, Type Iiic

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GO Terms for genes affiliated with Gaucher Disease, Type Iiic

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Products for genes affiliated with Gaucher Disease, Type Iiic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gaucher Disease, Type Iiic

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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