EORVA
MCID: OPH021
MIFTS: 19

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 56 73 6
Eorva 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
ophthalmoplegia, external, with rib and vertebral anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

OMIM : 56 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, and related phenotypes are basilar invagination and pectus excavatum

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 basilar invagination 31 very rare (1%) HP:0012366
2 pectus excavatum 31 HP:0000767
3 ptosis 31 HP:0000508
4 scoliosis 31 HP:0002650
5 missing ribs 31 HP:0000921
6 external ophthalmoplegia 31 HP:0000544
7 torticollis 31 HP:0000473
8 exotropia 31 HP:0000577
9 short ribs 31 HP:0000773
10 pseudoarthrosis 31 HP:0005864
11 hypotropia 31 HP:0025584

Symptoms via clinical synopsis from OMIM:

56
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
pseudoarthrosis
hypoplastic ribs
shortened ribs
fusion anomalies
more
Head And Neck Eyes:
exotropia
hypotropia
ptosis, congenital
external ophthalmoplegia, congenital
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:

40
Eye

Publications for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

Articles related to Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

(showing 2, show less)
# Title Authors PMID Year
1
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. 56 6
29887215 2018
2
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. 6 56
10844060 2000

Variations for Ophthalmoplegia, External, with Rib and Vertebral Anomalies

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

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)SNV Pathogenic 523662 rs1565864693 12:81111125-81111125 12:80717346-80717346
2 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs)deletion Pathogenic 523663 rs1555216163 12:81110865-81110874 12:80717086-80717095

UniProtKB/Swiss-Prot genetic disease variations for Ophthalmoplegia, External, with Rib and Vertebral Anomalies:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MYF5 p.Arg95Cys VAR_081557

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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