KEGG DISEASE: Wiedemann-Rautenstrauch syndrome

KEGG

DISEASE: Wiedemann-Rautenstrauch syndrome

Entry

H02917                      Disease

Name

Wiedemann-Rautenstrauch syndrome

Description

Wiedemann-Rautenstrauch syndrome (WDRTS), also known as neonatal progeroid syndrome, is a rare autosomal recessive condition characterized by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations, and unusual face. It has been reported that mutations in POLR3A cause this syndrome. POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H02917  Wiedemann-Rautenstrauch syndrome

Gene

POLR3A [HSA:11128] [KO:K03018]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Arboleda G, Morales LC, Quintero L, Arboleda H

Title

Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.

Journal

Am J Med Genet A 155A:1712-5 (2011)
DOI:10.1002/ajmg.a.34019

Reference

Authors

Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV

Title

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

Journal

Am J Med Genet A 170:3343-3346 (2016)
DOI:10.1002/ajmg.a.37960

Reference

Authors

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmuller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Muller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC

Title

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Journal

J Med Genet 55:837-846 (2018)
DOI:10.1136/jmedgenet-2018-105528

LinkDB

» Japanese version

DBGET integrated database retrieval system