| H00900 | |
| H番号 | H00900 |
| 名称 | Geleophysic dysplasia |
| 概要 | Geleophysic dysplasia ((GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06507(H00900) TGFB signaling |
| 病因遺伝子 | (GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430] (GPHYSD2) FBN1 [HSA:2200] [KO:K06825] (GPHYSD3) LTBP3 [HSA:4054] [KO:K08023] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.8Y ICD-10: Q87.1 MeSH: C535662 OMIM: 231050 614185 617809 |
| 文献 | PMID:6507495 著者 Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM タイトル Geleophysic dysplasia. 雑誌 Am J Med Genet 19:487-99 (1984) DOI:10.1002/ajmg.1320190310 PMID:21415077 (ADAMTSL2) 著者 Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Genevieve D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbane A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V タイトル Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 雑誌 J Med Genet 48:417-21 (2011) DOI:10.1136/jmg.2010.087544 PMID:21683322 (FBN1) 著者 Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V タイトル Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 雑誌 Am J Hum Genet 89:7-14 (2011) DOI:10.1016/j.ajhg.2011.05.012 PMID:27068007 (LTBP3) 著者 McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V タイトル Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 雑誌 J Med Genet 53:457-64 (2016) DOI:10.1136/jmedgenet-2015-103647 |