KEGG DISEASE: Short rib-polydactyly syndrome

DISEASE: Short rib-polydactyly syndrome

Entry

H00511                      Disease

Name

Short rib-polydactyly syndrome

Supergrp

Short-rib thoracic dysplasia [DS:H02157]

Description

Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate.

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
    H00511  Short rib-polydactyly syndrome

Gene

(SRPS1/2B/3) DYNC2H1 [HSA:79659] [KO:K10414]
(SRPS2A) NEK1 [HSA:4750] [KO:K08857]
(SRPS5) WDR35 [HSA:57539] [KO:K19674]
(SRPS6) DYNC2I1 [HSA:55112] [KO:K22869]

Other DBs

ICD-11:

LD24.B0

MeSH:

D012779

OMIM:

613091 263520 614091 615503

Reference

PMID:19361615 (DYNC2H1)

Authors

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D

Title

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Journal

Am J Hum Genet 84:542-9 (2009)
DOI:10.1016/j.ajhg.2009.03.015

Reference

PMID:19442771 (DYNC2H1)

Authors

Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V

Title

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Journal

Am J Hum Genet 84:706-11 (2009)
DOI:10.1016/j.ajhg.2009.04.016

Reference

PMID:21211617 (NEK1)

Authors

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A

Title

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Journal

Am J Hum Genet 88:106-14 (2011)
DOI:10.1016/j.ajhg.2010.12.004

Reference

PMID:28400947 (WDR35)

Authors

Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D

Title

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

Journal

Cilia 6:7 (2017)
DOI:10.1186/s13630-017-0051-y

Reference

PMID:23910462 (DYNC2I1)

Authors

McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C

Title

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Journal

Am J Hum Genet 93:515-23 (2013)
DOI:10.1016/j.ajhg.2013.06.022

LinkDB

» Japanese version

DBGET integrated database retrieval system