MCID: GCH013
MIFTS: 24

Gaucher Disease, Type Iiic malady

Genetic diseases, Eye diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Respiratory diseases, Bone diseases categories

Summaries for Gaucher Disease, Type Iiic

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48OMIM, 34MalaCards
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MalaCards: Gaucher Disease, Type Iiic, also known as gaucher disease - ophthalmoplegia - cardiovascular calcification, is related to pseudo-gaucher disease and gaucher disease type 1, and has symptoms including heart/cardiac failure, seizures/epilepsy/absences/spasms/status epilepticus and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Gaucher Disease, Type Iiic is GBA (glucosidase, beta, acid). Affiliated tissues include eye and heart.

Description from OMIM:48 231005

Aliases & Classifications for Gaucher Disease, Type Iiic

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Sources:
50Orphanet, 48OMIM, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
gaucher disease - ophthalmoplegia - cardiovascular calcification:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

gaucher disease, type iiic 48
gaucher disease - ophthalmoplegia - cardiovascular calcification 50
cardiovascular gaucher disease 50
gaucher disease type 3c 50
gaucher-like disease 50


External Ids:

OMIM48 231005
ICD10 via Orphanet27 E75.2
UMLS via Orphanet64 C2931585

Related Diseases for Gaucher Disease, Type Iiic

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18GeneCards, 19GeneDecks
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Diseases in the Gaucher's Disease family:

Gaucher Disease Type 1 Gaucher Disease Type 2
Pseudo-Gaucher Disease Gaucher Disease Type 3
gaucher disease, type iiic

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

idRelated DiseaseScoreTop Affiliating Genes
1pseudo-gaucher disease10.3
2gaucher disease type 110.3
3gaucher disease type 310.3

Symptoms for Gaucher Disease, Type Iiic

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Symptoms:

50 (show all 13)
  • heart/cardiac failure
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • hydrocephaly
  • hearing loss/hypoacusia/deafness
  • autosomal recessive inheritance
  • aortic arches anomalies
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • mitral valve atresia/stenosis/narrowing
  • cardiac valvulopathy
  • splenomegaly
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • abnormal eye movements/oculomotor disorder

Drugs & Therapeutics for Gaucher Disease, Type Iiic

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Gaucher Disease, Type Iiic

Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type Iiic

Search NIH Clinical Center for Gaucher Disease, Type Iiic

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Genetic Tests for Gaucher Disease, Type Iiic

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Anatomical Context for Gaucher Disease, Type Iiic

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34MalaCards
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MalaCards organs/tissues related to Gaucher Disease, Type Iiic:

34
Eye, Heart

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gaucher Disease, Type Iiic:

1
id Gene Name Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
2GBANM_001005741.2(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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gaucher Disease, Type Iiic

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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Compounds 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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Products for genes affiliated with Gaucher Disease, Type Iiic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Type Iiic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet