Details of Disease

General Information of Disease (ID: DISXOU3H)

• Disease Name: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
• Synonyms: keratitis-ichthyosis-deafness syndrome, autosomal dominant; autosomal dominant keratitis-ichthyosis-deafness syndrome; keratitis-ichthyosis -deafness syndrome; autosomal dominant KID syndrome; KID syndrome, autosomal dominant
• Definition: Autosomal dominant form of KID syndrome.
• Disease Hierarchy:
  DISRBJLW: KID syndrome
  DIS3HIWD: Autosomal dominant disease
  DISXOU3H: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007850
  MESH ID: C536168
  UMLS CUI: C0265336
  OMIM ID: 148210
  MedGen ID: 120536
  SNOMED CT ID: 2625009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB6	TTAU8SJ	Limited	Biomarker	[1]
GJB2	TTRGZX3	Strong	Autosomal dominant	[2]
GJB2	TTRGZX3	Definitive	Genetic Variation	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AQP6	OTXS6UYY	Strong	Biomarker	[4]
GJB2	OTBKLEYB	Strong	Autosomal dominant	[2]

References

• [1] Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.J Invest Dermatol. 2015 May;135(5):1338-1347. doi: 10.1038/jid.2015.20. Epub 2015 Jan 27.
• [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.
• [3] More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.J Am Acad Dermatol. 2019 Mar;80(3):617-625. doi: 10.1016/j.jaad.2018.09.042. Epub 2018 Oct 2.
• [4] Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome.Am J Med Genet. 1991 Sep 1;40(3):255-9. doi: 10.1002/ajmg.1320400302.