Details of Disease

General Information of Disease (ID: DISQ4HP6)

Disease Name Congenital fibrosis of extraocular muscles type 1
Synonyms
fibrosis of extraocular muscles, congenital, 3B; Feom1 locus; blepharoptosis with absent eye movements; ophthalmoplegia, congenital; fibrosis of extraocular muscles, congenital, 1; congenital fibrosis of extraocular muscles caused by mutation in KIF21A; KIF21A congenital fibrosis of extraocular muscles; CFEOM1
Definition Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISE84PU: Congenital fibrosis of extraocular muscles
DISQ4HP6: Congenital fibrosis of extraocular muscles type 1
Disease Identifiers
MONDO ID
MONDO_0021083
MESH ID
C567739
UMLS CUI
C1851102
OMIM ID
135700
MedGen ID
376943

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PHOX2A OTVS3R2X Strong Biomarker [1]
SSPN OTYG2SL7 Strong Genetic Variation [2]
KIF21A OT511XD9 Definitive Autosomal dominant [3]
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References

1 Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.Am J Hum Genet. 1998 Aug;63(2):517-25. doi: 10.1086/301980.
2 Analysis of human sarcospan as a candidate gene for CFEOM1.BMC Genet. 2001;2:3. doi: 10.1186/1471-2156-2-3. Epub 2001 Feb 6.
3 Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004 Dec;25(4):241-6. doi: 10.1080/13816810490902828.