| H00761 | |
| H番号 | H00761 |
| 名称 | パキスタン型脊椎骨端骨幹端異形成; 短体幹症 4型 |
| 概要 | Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | PAPSS2 [HSA:9060] [KO:K13811] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C567551 OMIM: 612847 |
| 文献 | PMID:9714015 著者 Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH タイトル Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. 雑誌 Am J Med Genet 78:468-73 (1998) DOI:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D PMID:9771708 著者 Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH タイトル Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 雑誌 Nat Genet 20:157-62 (1998) DOI:10.1038/2458 PMID:22791835 著者 Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S タイトル PAPSS2 mutations cause autosomal recessive brachyolmia. 雑誌 J Med Genet 49:533-8 (2012) DOI:10.1136/jmedgenet-2012-101039 |