| H00470 | |
| H番号 | H00470 |
| 名称 | Maroteaux 型遠位中間肢異形成症 |
| 概要 | Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | NPR2 [HSA:4882] [KO:K12324] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.9 ICD-10: Q77.8 MeSH: C535661 OMIM: 602875 |
| 文献 | PMID:18945719 著者 Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR タイトル Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. 雑誌 Hum Mol Genet 18:267-77 (2009) DOI:10.1093/hmg/ddn354 PMID:15146390 著者 Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML タイトル Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 雑誌 Am J Hum Genet 75:27-34 (2004) DOI:10.1086/422013 PMID:17652215 著者 Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y タイトル Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. 雑誌 J Clin Endocrinol Metab 92:4009-14 (2007) DOI:10.1210/jc.2007-1101 |