KEGG DISEASE: Al Kaissi syndrome

KEGG

DISEASE: Al Kaissi syndrome

Entry

H02493                      Disease

Name

Al Kaissi syndrome

Description

Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.

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
    H02493  Al Kaissi syndrome

Gene

CDK10 [HSA:8558] [KO:K02449]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmuller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P

Title

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Journal

Am J Hum Genet 101:391-403 (2017)
DOI:10.1016/j.ajhg.2017.08.003

LinkDB

» Japanese version

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