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, 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

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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 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:52 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 & Phenotypes 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:

 64 54 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ophthalmoparesis64 hallmark (90%) HP:0000597
2 abnormality of the aortic valve64 hallmark (90%) HP:0001646
3 abnormality of the aorta64 hallmark (90%) HP:0001679
4 mitral stenosis64 hallmark (90%) HP:0001718
5 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
6 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
7 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
8 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
9 hypertonia64 54 typical (50%) Frequent (79-30%) HP:0001276
10 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
11 strabismus64 HP:0000486
12 supranuclear ophthalmoplegia64 54 Very frequent (99-80%) HP:0000623
13 horizontal nystagmus64 HP:0000666
14 cardiomegaly64 HP:0001640
15 pes cavus64 HP:0001761
16 pancytopenia64 HP:0001876
17 hepatomegaly64 HP:0002240
18 calcification of the aorta64 54 Very frequent (99-80%) HP:0004963
19 calcific aortic valve stenosis64 54 Very frequent (99-80%) HP:0005173
20 opacification of the corneal stroma64 HP:0007759
21 slowed horizontal saccades64 54 Very frequent (99-80%) HP:0007885
22 hypometric horizontal saccades64 HP:0007975
23 calcific mitral stenosis64 54 Very frequent (99-80%) HP:0200129
24 abnormality of saccadic eye movements54 Very frequent (99-80%)
25 abnormality of the heart valves54 Very frequent (99-80%)
26 reticular hyperpigmentation54 Very frequent (99-80%)
27 abnormality of the aortic arch54 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 3c27

Anatomical Context for Gaucher Disease, Type Iiic

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

36
Heart, Eye

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
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