MCID: GCH013
MIFTS: 24

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

About this section

Aliases & Descriptions for Gaucher Disease, Type Iiic:

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


Classifications:



External Ids:

OMIM49 231005
MedGen34 C1856476
MeSH36 D005776

Summaries for Gaucher Disease, Type Iiic

About this section
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 pseudo-gaucher disease, is related to pseudo-gaucher disease and gaucher disease, type i, and has symptoms including ophthalmoparesis, abnormality of the aortic valve and abnormality of the aorta. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosidase, Beta, Acid). Affiliated tissues include heart, bone and eye.

Description from OMIM:49 231005

Related Diseases for Gaucher Disease, Type Iiic

About this section

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 disease10.5
2gaucher disease, type i10.3
3gaucher disease, type iii10.3
4gaucher disease - ophthalmoplegia - cardiovascular calcification10.3

Symptoms for Gaucher Disease, Type Iiic

About this section

Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

HPO human phenotypes related to Gaucher Disease, Type Iiic:

(show all 27)
id Description Frequency HPO Source Accession
1 ophthalmoparesis hallmark (90%) HP:0000597
2 abnormality of the aortic valve hallmark (90%) HP:0001646
3 abnormality of the aorta hallmark (90%) HP:0001679
4 mitral stenosis hallmark (90%) HP:0001718
5 splenomegaly hallmark (90%) HP:0001744
6 hydrocephalus typical (50%) HP:0000238
7 hearing impairment typical (50%) HP:0000365
8 seizures typical (50%) HP:0001250
9 hypertonia typical (50%) HP:0001276
10 congestive heart failure occasional (7.5%) HP:0001635
11 autosomal recessive inheritance HP:0000007
12 hydrocephalus HP:0000238
13 strabismus HP:0000486
14 supranuclear ophthalmoplegia HP:0000623
15 horizontal nystagmus HP:0000666
16 seizures HP:0001250
17 cardiomegaly HP:0001640
18 splenomegaly HP:0001744
19 pes cavus HP:0001761
20 pancytopenia HP:0001876
21 hepatomegaly HP:0002240
22 calcification of the aorta HP:0004963
23 calcific aortic valve stenosis HP:0005173
24 opacification of the corneal stroma HP:0007759
25 slowed horizontal saccades HP:0007885
26 hypometric horizontal saccades HP:0007975
27 calcific mitral stenosis HP:0200129

Drugs & Therapeutics for Gaucher Disease, Type Iiic

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Gaucher Disease, Type Iiic

Genetic Tests for Gaucher Disease, Type Iiic

About this section

Anatomical Context for Gaucher Disease, Type Iiic

About this section

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

33
Heart, Bone, Eye

Animal Models for Gaucher Disease, Type Iiic or affiliated genes

About this section

Publications for Gaucher Disease, Type Iiic

About this section

Variations for Gaucher Disease, Type Iiic

About this section

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

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

Pathways for genes affiliated with Gaucher Disease, Type Iiic

About this section

GO Terms for genes affiliated with Gaucher Disease, Type Iiic

About this section

Sources for Gaucher Disease, Type Iiic

About this section
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