MCID: GCH013
MIFTS: 21

Gaucher Disease, Type Iiic malady

Eye diseases, Metabolic diseases, Cardiovascular diseases categories

Summaries for Gaucher Disease, Type Iiic

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46OMIM, 32MalaCards
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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:46 231005

Aliases & Classifications for Gaucher Disease, Type Iiic

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
gaucher disease - ophthalmoplegia - cardiovascular calcification:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

gaucher disease, type iiic 46
gaucher disease - ophthalmoplegia - cardiovascular calcification 48
cardiovascular gaucher disease 48
gaucher disease type 3c 48
gaucher-like disease 48


External Ids:

OMIM46 231005
ICD10 via Orphanet26 E75.2

Related Diseases for Gaucher Disease, Type Iiic

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

231005

Clinical synopsis from OMIM:

231005

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Gaucher Disease, Type Iiic

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32MalaCards
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MalaCards organs/tissues related to Gaucher Disease, Type Iiic:

32
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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Genetic Variations for Gaucher Disease, Type Iiic

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Expression for genes affiliated with Gaucher Disease, Type Iiic

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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

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet