KEGG   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: LD24.8Y
ICD-10: Q87.1
MeSH: C535662
OMIM: 231050 614185
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
  Authors
Cormier-Daire V, Le Goff C
  Title
Geleophysic Dysplasia
  Journal
GeneReviews (1993)
Reference
  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
  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

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