KEGG DISEASE: KID/HID syndrome

KEGG

DISEASE: KID/HID syndrome

Entry

H00712                      Disease

Name

KID/HID syndrome

Subgroup

Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD)
Keratitis-ichthyosis-deafness syndrome, autosomal recessive (KIDAR)
Hystrix-like-ichthyosis-deafness syndrome (HID)

Description

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00712  KID/HID syndrome

Gene

(KIDAD/HID) GJB2 [HSA:2706] [KO:K07621]
(KIDAR) AP1B1 [HSA:162] [KO:K12392]

Other DBs

ICD-11:

MeSH:

C536168 C566528 C537363

OMIM:

148210 602540 242150

Reference

Authors

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A

Title

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Journal

Br J Dermatol 156:1015-9 (2007)
DOI:10.1111/j.1365-2133.2007.07806.x

Reference

Authors

Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R

Title

Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.

Journal

Pediatr Dermatol 13:105-13 (1996)
DOI:10.1111/j.1525-1470.1996.tb01414.x

Reference

Authors

Langer K, Konrad K, Wolff K

Title

Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.

Journal

Br J Dermatol 122:689-97 (1990)
DOI:10.1111/j.1365-2133.1990.tb07292.x

Reference

Authors

Todt I, Hennies HC, Kuster W, Smolle J, Rademacher G, Mutze S, Basta D, Eisenschenk A, Ernst A

Title

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.

Journal

Audiol Neurootol 11:242-8 (2006)
DOI:10.1159/000093110

Reference

Authors

Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS

Title

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Journal

Am J Hum Genet 105:1016-1022 (2019)
DOI:10.1016/j.ajhg.2019.09.020

LinkDB

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