KEGG DISEASE: 3M syndrome

DISEASE: 3M syndrome

Entry

H00509                      Disease

Name

3M syndrome

Description

The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1.

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
    H00509  3M syndrome

Pathway

hsa04120

Ubiquitin mediated proteolysis

Gene

(3M1) CUL7 [HSA:9820] [KO:K10613]
(3M2) OBSL1 [HSA:23363] [KO:K19574]
(3M3) CCDC8 [HSA:83987] [KO:K17561]

Other DBs

ICD-11:

LD24.D

MeSH:

C535314 C567862

OMIM:

273750 612921 614205

Reference

PMID:21396581

Authors

Huber C, Munnich A, Cormier-Daire V

Title

The 3M syndrome.

Journal

Best Pract Res Clin Endocrinol Metab 25:143-51 (2011)
DOI:10.1016/j.beem.2010.08.015

Reference

PMID:19225462 (CUL7)

Authors

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V

Title

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Journal

Eur J Hum Genet 17:395-400 (2009)
DOI:10.1038/ejhg.2008.200

Reference

PMID:19481195 (OBSL1)

Authors

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE

Title

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Journal

Am J Hum Genet 84:801-6 (2009)
DOI:10.1016/j.ajhg.2009.04.021

Reference

PMID:21737058 (CCDC8)

Authors

Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC

Title

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Journal

Am J Hum Genet 89:148-53 (2011)
DOI:10.1016/j.ajhg.2011.05.028

LinkDB

» Japanese version

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