KEGG DISEASE: Geleophysic dysplasia

DISEASE: Geleophysic dysplasia

Entry

H00900                      Disease

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

Brite

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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00900  Geleophysic dysplasia
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00900  Geleophysic dysplasia

Pathway

hsa04350

TGF-beta signaling pathway

hsa04820

Cytoskeleton in muscle cells

Network

nt06507 TGFB signaling
nt06539 Cytoskeleton in muscle cells

Gene

(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430]
(GPHYSD2) FBN1 [HSA:2200] [KO:K06825]
(GPHYSD3) LTBP3 [HSA:4054] [KO:K08023]

Other DBs

ICD-11:

LD24.8Y

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DISEASE: Marfan syndrome

Entry

H00653                      Disease

Name

Marfan syndrome

Subgroup

Marfan lipodystrophy syndrome

Description

Marfan syndrome (MFS) is a relatively common autosomal dominant disorder of connective tissue. It affects many parts of the body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1.