KEGG   DISEASE: SHORT syndromeHelp
Entry
H01370                      Disease                                

Name
SHORT syndrome
Description
SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01370  SHORT syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01370  SHORT syndrome
BRITE hierarchy
Pathway
hsa04151  PI3K-Akt signaling pathway
Gene
PIK3R1 [HSA:5295] [KO:K02649]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
MeSH: C537327
OMIM: 269880
Reference
  Authors
Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR
  Title
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
  Journal
Am J Hum Genet 93:150-7 (2013)
DOI:10.1016/j.ajhg.2013.05.023
Reference
  Authors
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM
  Title
Mutations in PIK3R1 cause SHORT syndrome.
  Journal
Am J Hum Genet 93:158-66 (2013)
DOI:10.1016/j.ajhg.2013.06.005

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