KEGG DISEASE: Bowen-Conradi syndrome

KEGG

DISEASE: Bowen-Conradi syndrome

Entry

H00616                      Disease

Name

Bowen-Conradi syndrome

Description

Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.

Category

Ribosomopathy

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00616  Bowen-Conradi syndrome

Pathway

Ribosome biogenesis in eukaryotes

Gene

EMG1 [HSA:10436] [KO:K14568]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B

Title

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Journal

Am J Hum Genet 84:728-39 (2009)
DOI:10.1016/j.ajhg.2009.04.017

Reference

Authors

Freed EF, Bleichert F, Dutca LM, Baserga SJ

Title

When ribosomes go bad: diseases of ribosome biogenesis.

Journal

Mol Biosyst 6:481-93 (2010)
DOI:10.1039/b919670f

LinkDB

» Japanese version

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