KEGG DISEASE: Geleophysic dysplasia

DISEASE: Geleophysic dysplasia

Entry

H00900 Disease

Name

Geleophysic dysplasia

Description

Geleophysic dysplasia 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

Brite

Human diseases [BR:br08402]
Congenital malformations
  Other congenital malformations
   H00900  Geleophysic dysplasia
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00900  Geleophysic dysplasia

Gene

ADAMTSL2 [HSA:9719] [KO:K24430]
FBN1 [HSA:2200] [KO:K06825]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

PMID:20301776

Authors

Cormier-Daire V, Le Goff C

Title

Geleophysic Dysplasia

Journal

GeneReviews (1993)

Reference

PMID:21415077

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

Reference

PMID:21683322

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

» Japanese version

All links

Ontology (2)   
   KEGG BRITE (2)   
Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (12)   

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