| H00815 | |
| H number | H00815 |
| 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 |
| Network | - |
| Gene | SLC29A3 [HSA:55315] [KO:K15014] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.Y ICD-10: D76.3 MeSH: C538322 OMIM: 602782 |
| Reference | PMID:18410979 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 PMID:18940313 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 PMID:20199539 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 |