MCID: GCH013
MIFTS: 21

Gaucher Disease, Type Iiic malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Gaucher Disease, Type Iiic

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Aliases & Descriptions for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 49 11
Gaucher-Like Disease 67 65
Pseudo-Gaucher Disease 67
 
Gaucher Disease 3c 67
Gd3c 67

Characteristics:

HPO:

61
gaucher disease, type iiic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231005
MedGen34 C1856476
MeSH36 D005776
UMLS65 C2931585

Summaries for Gaucher Disease, Type Iiic

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UniProtKB/Swiss-Prot:67 Gaucher disease 3C: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.

MalaCards based summary: Gaucher Disease, Type Iiic, also known as gaucher-like disease, is related to pseudo-gaucher disease and gaucher disease - ophthalmoplegia - cardiovascular calcification, and has symptoms including splenomegaly, mitral stenosis and abnormality of the aorta. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include heart, eye and bone.

Description from OMIM:49 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
1pseudo-gaucher disease12.7
2gaucher disease - ophthalmoplegia - cardiovascular calcification11.6
3gaucher disease, type i10.6
4gaucher disease, type iii10.6

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 26)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 mitral stenosis hallmark (90%) HP:0001718
3 abnormality of the aorta hallmark (90%) HP:0001679
4 abnormality of the aortic valve hallmark (90%) HP:0001646
5 ophthalmoparesis hallmark (90%) HP:0000597
6 hypertonia typical (50%) HP:0001276
7 seizures typical (50%) HP:0001250
8 hearing impairment typical (50%) HP:0000365
9 hydrocephalus typical (50%) HP:0000238
10 congestive heart failure occasional (7.5%) HP:0001635
11 calcific mitral stenosis HP:0200129
12 hypometric horizontal saccades HP:0007975
13 slowed horizontal saccades HP:0007885
14 opacification of the corneal stroma HP:0007759
15 calcific aortic valve stenosis HP:0005173
16 calcification of the aorta HP:0004963
17 hepatomegaly HP:0002240
18 pancytopenia HP:0001876
19 pes cavus HP:0001761
20 splenomegaly HP:0001744
21 cardiomegaly HP:0001640
22 seizures HP:0001250
23 horizontal nystagmus HP:0000666
24 supranuclear ophthalmoplegia HP:0000623
25 strabismus HP:0000486
26 hydrocephalus HP:0000238

Drugs & Therapeutics for Gaucher Disease, Type Iiic

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Interventional clinical trials:

Search ClinicalTrials, 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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MalaCards organs/tissues related to Gaucher Disease, Type Iiic:

33
Heart, Eye, Bone

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
2GBANM_000157.3(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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GO Terms for genes affiliated with Gaucher Disease, Type Iiic

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Sources for Gaucher Disease, Type Iiic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet