Details of Disease | DrugMAP

General Information of Disease (ID: DISHBITM)

Disease Name	Fibrosis of extraocular muscles, congenital, 2
Synonyms	fibrosis of extraocular muscles, congenital, autosomal recessive; Feom2 locus; CFEOM2; fibrosis of extraocular muscles, congenital, type 2; fibrosis of extraocular muscles, congenital, 2; congenital fibrosis of extraocular muscles caused by mutation in PHOX2A; PHOX2A congenital fibrosis of extraocular muscles
Definition	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISE84PU: Congenital fibrosis of extraocular muscles DISHBITM: Fibrosis of extraocular muscles, congenital, 2
Disease Identifiers	MONDO ID MONDO_0011181 MESH ID C566587 UMLS CUI C1865915 OMIM ID 602078 MedGen ID 356119

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
KIF21A	OT511XD9	Strong	Biomarker	[1]
PHOX2A	OTVS3R2X	Strong	Autosomal recessive	[2]
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References

1	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.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.