MCID: GCH019
MIFTS: 12

Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

MalaCards integrated aliases for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification:

Name: Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification 53
Gaucher Disease Type 3c 53 29 6 40
Gaucher-Like Disease 53 73
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome 53
Cardiovascular Gaucher Disease 53
Gaucher Disease, Type Iiic 53
Pseudo Gaucher Disease 53

Classifications:



External Ids:

UMLS 73 C2931585

Summaries for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

MalaCards based summary : Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification, also known as gaucher disease type 3c, is related to pseudo-gaucher disease and gaucher disease, type iiic. An important gene associated with Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification is GBA (Glucosylceramidase Beta).

Related Diseases for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Diseases related to Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudo-gaucher disease 11.7
2 gaucher disease, type iiic 11.5
3 gaucher disease, type i 11.3
4 gaucher disease, type iii 11.3
5 gaucher's disease 10.1

Graphical network of the top 20 diseases related to Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification:



Diseases related to Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Symptoms & Phenotypes for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Drugs & Therapeutics for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Search Clinical Trials , NIH Clinical Center for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Genetic Tests for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Genetic tests related to Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification:

# Genetic test Affiliating Genes
1 Gaucher Disease Type 3c 29 GBA

Anatomical Context for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Publications for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Articles related to Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification:

# Title Authors Year
1
D409H/D409H genotype in Gaucher-like disease. ( 9040001 )
1997

Variations for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Expression for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Search GEO for disease gene expression data for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification.

Pathways for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

GO Terms for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

Sources for Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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