MCID: GCH013
MIFTS: 27

Gaucher Disease, Type Iiic 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

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 51 12
Gaucher-Like Disease 53 69 67
Gaucher Disease 3c 69 26
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 53
 
Cardiovascular Gaucher Disease 53
Gaucher Disease Type 3c 53
Pseudo-Gaucher Disease 69
Gd3c 69

Characteristics:

Orphanet epidemiological data:

53
gaucher-like disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
gaucher disease, type iiic:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 231005
Orphanet53 ORPHA2072
ICD10 via Orphanet30 E75.2
UMLS via Orphanet68 C2931585
MedGen36 C1856476
MeSH38 D005776

Summaries for Gaucher Disease, Type Iiic

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UniProtKB/Swiss-Prot:69 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 ophthalmoparesis, abnormality of the aortic valve and abnormality of the aorta. An important gene associated with Gaucher Disease, Type Iiic is GBA (Glucosylceramidase Beta). Affiliated tissues include heart and eye.

Description from OMIM:51 231005

Related Diseases for Gaucher Disease, Type Iiic

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Diseases in the Pseudo-Gaucher Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii gaucher disease, type iiic

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 for Gaucher Disease, Type Iiic

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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Human phenotypes related to Gaucher Disease, Type Iiic:

 63 53 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoparesis63 hallmark (90%) HP:0000597
2 abnormality of the aortic valve63 hallmark (90%) HP:0001646
3 abnormality of the aorta63 hallmark (90%) HP:0001679
4 mitral stenosis63 hallmark (90%) HP:0001718
5 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hydrocephalus63 53 typical (50%) Frequent (79-30%) HP:0000238
7 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
8 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
9 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
10 congestive heart failure63 53 occasional (7.5%) Occasional (29-5%) HP:0001635
11 strabismus63 HP:0000486
12 supranuclear ophthalmoplegia63 53 Very frequent (99-80%) HP:0000623
13 horizontal nystagmus63 HP:0000666
14 cardiomegaly63 HP:0001640
15 pes cavus63 HP:0001761
16 pancytopenia63 HP:0001876
17 hepatomegaly63 HP:0002240
18 calcification of the aorta63 53 Very frequent (99-80%) HP:0004963
19 calcific aortic valve stenosis63 53 Very frequent (99-80%) HP:0005173
20 opacification of the corneal stroma63 HP:0007759
21 slowed horizontal saccades63 53 Very frequent (99-80%) HP:0007885
22 hypometric horizontal saccades63 HP:0007975
23 calcific mitral stenosis63 53 Very frequent (99-80%) HP:0200129
24 abnormality of saccadic eye movements53 Very frequent (99-80%)
25 abnormality of the heart valves53 Very frequent (99-80%)
26 reticular hyperpigmentation53 Very frequent (99-80%)
27 abnormality of the aortic arch53 Very frequent (99-80%)

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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Genetic tests related to Gaucher Disease, Type Iiic:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 3c26

Anatomical Context for Gaucher Disease, Type Iiic

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

35
Heart, Eye

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)SNV, HaplotypePathogenicrs1064651GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet