GD3C
MCID: GCH013
MIFTS: 27

Gaucher Disease, Type Iiic (GD3C) malady

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

Aliases & Classifications for Gaucher Disease, Type Iiic

About this section
Sources:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 52 12
Gaucher-Like Disease 54 70 68
Gaucher Disease 3c 70 27
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 54
 
Cardiovascular Gaucher Disease 54
Gaucher Disease Type 3c 54
Pseudo-Gaucher Disease 70
Gd3c 70

Characteristics:

Orphanet epidemiological data:

54
gaucher-like disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
gaucher disease, type iiic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 231005
Orphanet54 ORPHA2072
ICD10 via Orphanet31 E75.2
UMLS via Orphanet69 C2931585
MedGen37 C1856476
MeSH39 D005776

Summaries for Gaucher Disease, Type Iiic

About this section
UniProtKB/Swiss-Prot:70 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 Array, Array and Array. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include heart and eye.

Description from OMIM:52 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 disease12.1
2gaucher disease - ophthalmoplegia - cardiovascular calcification11.1
3gaucher disease, type i11.1
4gaucher disease, type iii11.1

Symptoms & Phenotypes for Gaucher Disease, Type Iiic

About this section

Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Human phenotypes related to Gaucher Disease, Type Iiic:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Frequent (79-30%) HP:0000238
2 hearing impairment54 Frequent (79-30%)
3 abnormality of saccadic eye movements54 Very frequent (99-80%)
4 supranuclear ophthalmoplegia64 54 Very frequent (99-80%) HP:0000623
5 seizures64 54 Frequent (79-30%) HP:0001250
6 hypertonia54 Frequent (79-30%)
7 congestive heart failure54 Occasional (29-5%)
8 abnormality of the heart valves54 Very frequent (99-80%)
9 splenomegaly64 54 Very frequent (99-80%) HP:0001744
10 calcification of the aorta64 54 Very frequent (99-80%) HP:0004963
11 calcific aortic valve stenosis64 54 Very frequent (99-80%) HP:0005173
12 reticular hyperpigmentation54 Very frequent (99-80%)
13 slowed horizontal saccades64 54 Very frequent (99-80%) HP:0007885
14 abnormality of the aortic arch54 Very frequent (99-80%)
15 calcific mitral stenosis64 54 Very frequent (99-80%) HP:0200129
16 strabismus64 HP:0000486
17 horizontal nystagmus64 HP:0000666
18 cardiomegaly64 HP:0001640
19 pes cavus64 HP:0001761
20 pancytopenia64 HP:0001876
21 hepatomegaly64 HP:0002240
22 opacification of the corneal stroma64 HP:0007759
23 hypometric horizontal saccades64 HP:0007975

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

Genetic tests related to Gaucher Disease, Type Iiic:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3c27

Anatomical Context for Gaucher Disease, Type Iiic

About this section

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

36
Heart, Eye

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)SNV, HaplotypePathogenicrs1064651GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet