Details of Disease | DrugMAP

General Information of Disease (ID: DISCP5U8)

Disease Name	Fibrosis of extraocular muscles, congenital, 5
Synonyms	CFEOM5; fibrosis of extraocular muscles, congenital, type 5; COL25A1 congenital fibrosis of extraocular muscles; congenital fibrosis of extraocular muscles caused by mutation in COL25A1; fibrosis of extraocular muscles, congenital, 5
Definition	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISE84PU: Congenital fibrosis of extraocular muscles DISCP5U8: Fibrosis of extraocular muscles, congenital, 5
Disease Identifiers	MONDO ID MONDO_0014538 UMLS CUI C4015552 OMIM ID 616219 MedGen ID 863989

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL25A1	OT7M23Z9	Strong	Autosomal recessive	[1]
KIF21A	OT511XD9	Strong	Biomarker	[2]
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References

1	Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet. 2015 Jan 8;96(1):147-52. doi: 10.1016/j.ajhg.2014.11.006. Epub 2014 Dec 11.
2	Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.Neuron. 2014 Apr 16;82(2):334-49. doi: 10.1016/j.neuron.2014.02.038. Epub 2014 Mar 20.