Details of Disease

General Information of Disease (ID: DISXIA78)

Disease Name Nystagmus 1, congenital, X-linked
Synonyms
NYSTAGMUS 1, congenital, X-linked; Xlpan; Nystagmus, infantile periodic alternating, X-linked; NYS1; Nystagmus, infantile idiopathic; Nystagmus, infantile idiopathic, formerly; Nystagmus, congenital motor, 1; Nystagmus 1, infantile, X-linked; Nystagmus 1, congenital, X- linked; FRMD7 congenital nystagmus; nystagmus 1, congenital, X-linked; congenital nystagmus caused by mutation in FRMD7
Definition Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.
Disease Hierarchy
DISMYF5H: Acquired nystagmus
DISXIA78: Nystagmus 1, congenital, X-linked
Disease Identifiers
MONDO ID
MONDO_0010693
MESH ID
C537853
UMLS CUI
C1839580
OMIM ID
310700
MedGen ID
333352

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FRMD7 OTJ11849 Strong X-linked [1]
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References

1 Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1.