KEGG DISEASE: H syndrome

KEGG

DISEASE: H syndrome

Entry

H00815                      Disease

Name

H syndrome;
Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism

Description

The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism, short stature, and hyperglycemia. Anomalies such as hallux valgus and fixed flexion contractures of the toe and finger joints are additional clinical findings.

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
    H00815  H syndrome

Gene

SLC29A3 [HSA:55315] [KO:K15014]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A

Title

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

Journal

J Am Acad Dermatol 59:79-85 (2008)
DOI:10.1016/j.jaad.2008.03.021

Reference

Authors

Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A

Title

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Journal

Am J Hum Genet 83:529-34 (2008)
DOI:10.1016/j.ajhg.2008.09.013

Reference

Authors

Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A

Title

H syndrome: novel and recurrent mutations in SLC29A3.

Journal

Br J Dermatol 162:1132-4 (2010)
DOI:10.1111/j.1365-2133.2010.09653.x

LinkDB

» Japanese version

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