EORVA
MCID: OPH021
MIFTS: 12

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 58 76 6
Eorva 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


Classifications:



External Ids:

OMIM 58 618155
MeSH 45 D009886

Summaries for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

OMIM : 58 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). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 76 Ophthalmoplegia, external, with rib and vertebral anomalies: An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies.

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

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

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
cervical fusion (in some patients)
atlantooccipital fusion (in 1 patient)

Head And Neck Neck:
torticollis

Chest External Features:
pectus excavatum (in 1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
hypoplastic ribs
pseudoarthrosis
shortened ribs
fusion anomalies
more
Head And Neck Eyes:
exotropia
ptosis, congenital
external ophthalmoplegia, congenital
hypotropia
restriction of passive eye movements

Skeletal Skull:
clivus malformations (in some patients)
basilar invagination (in some patients)

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

MalaCards organs/tissues related to Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

42
Eye

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 rs1555216163 GRCh37 Chromosome 12, 81110865: 81110874
4 MYF5 NM_005593.2(MYF5): c.23_32delAGTTCTCACC (p.Gln8Leufs) deletion Pathogenic rs1555216163 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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