MCID: FBR096
MIFTS: 12

Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence:

Name: Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence 56 29
Congenital Fibrosis Syndrome with Synergistic Divergence 56
External Ophthalmoplegia with Synergistic Divergence 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
fibrosis of extraocular muscles, congenital, with synergistic divergence:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 609612
MedGen 41 C1865040

Summaries for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence, is also known as congenital fibrosis syndrome with synergistic divergence. Affiliated tissues include eye, and related phenotypes are ptosis and exotropia

More information from OMIM: 609612

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence:

31
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
exotropia
downward gaze
restricted eye movement
extraocular muscle fibrosis
more
Head And Neck Head:
backward head tilt

Clinical features from OMIM:

609612

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence 29

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence:

40
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Articles related to Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence:

# Title Authors PMID Year
1
Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging. 56
15808269 2005
2
Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles. 56
9544647 1998
3
Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis. 56
2760786 1989
4
[Advances in research of synergistic divergence]. 61
30641676 2019

Variations for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Expression for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence.

Pathways for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

GO Terms for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

Sources for Fibrosis of Extraocular Muscles, Congenital, with Synergistic...

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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