| H00900 | |
| H number | H00900 |
| Name | Geleophysic dysplasia |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06507(H00900) TGFB signaling |
| Gene | (GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430] (GPHYSD2) FBN1 [HSA:2200] [KO:K06825] (GPHYSD3) LTBP3 [HSA:4054] [KO:K08023] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.8Y ICD-10: Q87.1 MeSH: C535662 OMIM: 231050 614185 617809 |
| Reference | PMID:6507495 AUTHORS Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM TITLE Geleophysic dysplasia. JOURNAL Am J Med Genet 19:487-99 (1984) DOI:10.1002/ajmg.1320190310 PMID:21415077 (ADAMTSL2) AUTHORS 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 TITLE Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. JOURNAL J Med Genet 48:417-21 (2011) DOI:10.1136/jmg.2010.087544 PMID:21683322 (FBN1) AUTHORS 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 TITLE Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. JOURNAL Am J Hum Genet 89:7-14 (2011) DOI:10.1016/j.ajhg.2011.05.012 PMID:27068007 (LTBP3) AUTHORS 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 TITLE Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. JOURNAL J Med Genet 53:457-64 (2016) DOI:10.1136/jmedgenet-2015-103647 |