Details of Disease

General Information of Disease (ID: DISRBJLW)

Disease Name KID syndrome
Synonyms
keratitis, ichthyosis, and deafness (KID) syndrome; Senter syndrome; ichthyosis hystrix Rheydt type; KID/HID syndrome; Keratitis Ichthyosis Deafness Syndrome; keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Definition
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.|Editor note: Orphanet classifies as both AD and AR
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DISLRS4M: Ectodermal dysplasia
DISRBJLW: KID syndrome
Disease Identifiers
MONDO ID
MONDO_0018781
MESH ID
C580224
UMLS CUI
C3665333
MedGen ID
777082
Orphanet ID
477
SNOMED CT ID
239059004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB6 TTAU8SJ Limited Biomarker [1]
GJB2 TTRGZX3 Supportive Autosomal dominant [2]
GJB6 TTAU8SJ Supportive Autosomal dominant [3]
GJB2 TTRGZX3 Strong Genetic Variation [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJB2 OTBKLEYB Supportive Autosomal dominant [2]
GJB6 OT9QQDZB Supportive Autosomal dominant [3]
AQP6 OTXS6UYY Strong Biomarker [5]
KIF22 OTY6X6BL Strong Biomarker [5]
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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 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
3 Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13. doi: 10.1111/j.0022-202X.2004.22518.x.
4 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.
5 Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.Audiol Neurootol. 2006;11(4):242-8. doi: 10.1159/000093110. Epub 2006 May 4.