| H00815 | |
| H番号 | H00815 |
| 名称 | H 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | SLC29A3 [HSA:55315] [KO:K15014] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.Y ICD-10: D76.3 MeSH: C538322 OMIM: 602782 |
| 文献 | PMID:18410979 著者 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 タイトル The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. 雑誌 J Am Acad Dermatol 59:79-85 (2008) DOI:10.1016/j.jaad.2008.03.021 PMID:18940313 著者 Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A タイトル The H syndrome is caused by mutations in the nucleoside transporter hENT3. 雑誌 Am J Hum Genet 83:529-34 (2008) DOI:10.1016/j.ajhg.2008.09.013 PMID:20199539 著者 Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A タイトル H syndrome: novel and recurrent mutations in SLC29A3. 雑誌 Br J Dermatol 162:1132-4 (2010) DOI:10.1111/j.1365-2133.2010.09653.x |