MCID: GCH013
MIFTS: 25

Gaucher Disease, Type Iiic malady

Genetic diseases, Eye diseases, Metabolic 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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MalaCards based summary: Gaucher Disease, Type Iiic, also known as gaucher-like disease, 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). Affiliated tissues include eye and heart.

Description from OMIM:46 231005

Aliases & Classifications for Gaucher Disease, Type Iiic

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Gaucher Disease, Type Iiic, Aliases & Descriptions:

Name: Gaucher Disease, Type Iiic 46
Gaucher-Like Disease 48 62
Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification 48
 
Cardiovascular Gaucher Disease 48
Gaucher Disease Type 3c 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C2931585
OMIM46 231005

Related Diseases for Gaucher Disease, Type Iiic

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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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Symptoms by clinical synopsis from OMIM:

231005

Clinical features from OMIM:

231005

Symptoms:

48 (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

HPO human phenotypes related to Gaucher Disease, Type Iiic:

(show all 27)
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 autosomal recessive inheritance HP:0000007
12 hydrocephalus HP:0000238
13 strabismus HP:0000486
14 supranuclear ophthalmoplegia HP:0000623
15 horizontal nystagmus HP:0000666
16 seizures HP:0001250
17 cardiomegaly HP:0001640
18 splenomegaly HP:0001744
19 pes cavus HP:0001761
20 pancytopenia HP:0001876
21 hepatomegaly HP:0002240
22 calcification of the aorta HP:0004963
23 calcific aortic valve stenosis HP:0005173
24 opacification of the corneal stroma HP:0007759
25 slowed horizontal saccades HP:0007885
26 hypometric horizontal saccades HP:0007975
27 calcific mitral stenosis HP:0200129

Drugs & Therapeutics for Gaucher Disease, Type Iiic

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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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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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Variations for Gaucher Disease, Type Iiic

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Clinvar genetic disease variations for Gaucher Disease, Type Iiic:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet