MCID: GCH013
MIFTS: 17

Gaucher Disease, Type Iiic malady

Eye, Metabolic, Cardiovascular categories

Summaries for Gaucher Disease, Type Iiic

Sources:
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 abnormal eye movements/oculomotor disorder, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and splenomegaly. An important gene associated with Gaucher Disease, Type Iiic is GBA (glucosidase, beta, acid).

Description from OMIM:47 231005

Aliases & Classifications for Gaucher Disease, Type Iiic

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

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Metabolic, Cardiovascular


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

Related Diseases for Gaucher Disease, Type Iiic

Sources:
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

Clinical Features for Gaucher Disease, Type Iiic

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

231005

Clinical synopsis from OMIM:

231005

Symptoms:

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

Drugs & Therapeutics for Gaucher Disease, Type Iiic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Search CenterWatch for Gaucher Disease, Type Iiic

Genetic Tests for Gaucher Disease, Type Iiic

Anatomical Context for Gaucher Disease, Type Iiic

Animal Models for Gaucher Disease, Type Iiic or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Gaucher Disease, Type Iiic

Sources:
51PubMed
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Articles related to Gaucher Disease, Type Iiic:

idTitleAuthorsYear
1
Type IIIc Gaucher disease and acrodysostosis. (10804949)
2000
2
Type IIIC Gaucher's disease (10973854)
2000

Genetic Variations for Gaucher Disease, Type Iiic

Expression for genes affiliated with Gaucher Disease, Type Iiic

Sources:
1BioGPS, 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

Compounds for genes affiliated with Gaucher Disease, Type Iiic

GO Terms for genes affiliated with Gaucher Disease, Type Iiic

Products for genes affiliated with Gaucher Disease, Type Iiic

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gaucher Disease, Type Iiic

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet