EORVA
MCID: OPH021
MIFTS: 6

Ophthalmoplegia, External, with Rib and Vertebral Anomalies (EORVA)

Categories: Genetic diseases

Aliases & Classifications for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

MalaCards integrated aliases for Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

Name: Ophthalmoplegia, External, with Rib and Vertebral Anomalies 57 6
Eorva 57

Classifications:



External Ids:

OMIM 57 618155

Summaries for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

OMIM : 57 External ophthalmoplegia with rib and vertebral anomalies is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018). (618155)

MalaCards based summary : Ophthalmoplegia, External, with Rib and Vertebral Anomalies, is also known as eorva. An important gene associated with Ophthalmoplegia, External, with Rib and Vertebral Anomalies is MYF5 (Myogenic Factor 5).

Related Diseases for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Symptoms & Phenotypes for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Clinical features from OMIM:

618155

Drugs & Therapeutics for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Search Clinical Trials , NIH Clinical Center for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Genetic Tests for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Anatomical Context for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Publications for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Variations for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

ClinVar genetic disease variations for Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYF5 NM_005593.2(MYF5): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 81111125: 81111125
2 MYF5 NM_005593.2(MYF5): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 80717346: 80717346
3 MYF5 NM_005593.2(MYF5): c.23_32delAGTTCTCACC (p.Gln8Leufs) deletion Pathogenic GRCh37 Chromosome 12, 81110865: 81110874
4 MYF5 NM_005593.2(MYF5): c.23_32delAGTTCTCACC (p.Gln8Leufs) deletion Pathogenic GRCh38 Chromosome 12, 80717086: 80717095

Expression for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Search GEO for disease gene expression data for Ophthalmoplegia, External, with Rib and Vertebral Anomalies.

Pathways for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

GO Terms for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Sources for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

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
Content
Loading form....