KEGG   DISEASE: H syndromeHelp
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 fiindings.
Category
Other disease
Brite
Human diseases [BR:br08402]
 Other diseases
  Others
   H00815  H syndrome
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
BRITE hierarchy
Gene
SLC29A3 [HSA:55315] [KO:K15014]
Other DBs
ICD-11: LD27.Y
ICD-10: D76.3
MeSH: C538322
OMIM: 602782
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

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