KEGG DISEASE: SHORT syndrome

DISEASE: SHORT syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06537  TCR/BCR signaling
   H01370  SHORT syndrome

Pathway

hsa04151 PI3K-Akt signaling pathway

hsa04662 B cell receptor signaling pathway

Network

nt06537 TCR/BCR signaling

Gene

PIK3R1 [HSA:5295] [KO:K02649]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C537327

OMIM:

269880

Reference

PMID:23810379

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

PMID:23810382

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

LinkDB

» Japanese version

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