MCID: GCH013
MIFTS: 28

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:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type Iiic:

Name: Gaucher Disease, Type Iiic 50 12
Gaucher-Like Disease 52 68 66
Gaucher Disease 3c 68 25
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 52
 
Cardiovascular Gaucher Disease 52
Gaucher Disease Type 3c 52
Pseudo-Gaucher Disease 68
Gd3c 68

Characteristics:

Orphanet epidemiological data:

52
gaucher-like disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
gaucher disease, type iiic:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 231005
Orphanet52 ORPHA2072
UMLS via Orphanet67 C2931585
ICD10 via Orphanet29 E75.2
MedGen35 C1856476
MeSH37 D005776

Summaries for Gaucher Disease, Type Iiic

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UniProtKB/Swiss-Prot:68 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 gaucher-like disease and pseudo-gaucher disease, 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:50 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 Gaucher-Like Disease

Diseases related to Gaucher Disease, Type Iiic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gaucher-like disease12.4
2pseudo-gaucher disease11.2
3gaucher disease, type i10.2
4gaucher disease, type iii10.2

Symptoms for Gaucher Disease, Type Iiic

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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Symptoms:

 52 (show all 15)
  • hydrocephalus
  • hearing impairment
  • abnormality of saccadic eye movements
  • supranuclear ophthalmoplegia
  • seizures
  • hypertonia
  • congestive heart failure
  • abnormality of the heart valves
  • splenomegaly
  • calcification of the aorta
  • calcific aortic valve stenosis
  • reticular hyperpigmentation
  • slowed horizontal saccades
  • abnormality of the aortic arch
  • calcific mitral stenosis

HPO human phenotypes related to Gaucher Disease, Type Iiic:

(show all 26)
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 hydrocephalus HP:0000238
12 strabismus HP:0000486
13 supranuclear ophthalmoplegia HP:0000623
14 horizontal nystagmus HP:0000666
15 seizures HP:0001250
16 cardiomegaly HP:0001640
17 splenomegaly HP:0001744
18 pes cavus HP:0001761
19 pancytopenia HP:0001876
20 hepatomegaly HP:0002240
21 calcification of the aorta HP:0004963
22 calcific aortic valve stenosis HP:0005173
23 opacification of the corneal stroma HP:0007759
24 slowed horizontal saccades HP:0007885
25 hypometric horizontal saccades HP:0007975
26 calcific mitral stenosis HP:0200129

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 3c25

Anatomical Context for Gaucher Disease, Type Iiic

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

34
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet