Details of Disease

General Information of Disease (ID: DISECS9M)

Disease Name Hearing loss, X-linked 4
Synonyms
deafness, X-linked 6, progressive; DFNX4; deafness, X-linked 4, X-linked dominant; deafness, nonsyndromic sensorineural progressive 6; SMPX X-linked nonsyndromic deafness; X-linked nonsyndromic deafness caused by mutation in SMPX; deafness, X-linked 4; deafness, X-linked type 4
Definition Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.
Disease Hierarchy
DISSWCJS: X-linked nonsyndromic hearing loss
DISECS9M: Hearing loss, X-linked 4
Disease Identifiers
MONDO ID
MONDO_0010238
MESH ID
C564723
UMLS CUI
C1848204
OMIM ID
300066
MedGen ID
376307

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
CDKL5 OTGL5HRV Limited Genetic Variation [1]
SMPX OTLSHGBF Strong X-linked [2]
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References

1 Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.Genomics. 1998 Aug 1;51(3):427-33. doi: 10.1006/geno.1998.5391.
2 Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5.