MCID: GCH013
MIFTS: 24

Gaucher Disease, Type Iiic malady

Genetic diseases, Eye diseases, Rare diseases, Cardiovascular diseases, Neuronal diseases, Respiratory diseases, Bone diseases categories
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Summaries for Gaucher Disease, Type Iiic

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47OMIM, 33MalaCards
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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:47 231005

Aliases & Classifications for Gaucher Disease, Type Iiic

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Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
gaucher disease - ophthalmoplegia - cardiovascular calcification:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

gaucher disease, type iiic 47
gaucher disease - ophthalmoplegia - cardiovascular calcification 49
cardiovascular gaucher disease 49
gaucher disease type 3c 49
gaucher-like disease 49


External Ids:

OMIM47 231005
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C2931585

Related Diseases for Gaucher Disease, Type Iiic

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Gaucher Disease, Type Iiic

Search NIH Clinical Center for Gaucher Disease, Type Iiic

Genetic Tests for Gaucher Disease, Type Iiic

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Anatomical Context for Gaucher Disease, Type Iiic

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33MalaCards
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MalaCards organs/tissues related to Gaucher Disease, Type Iiic:

33
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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet