KEGG DISEASE: Kosaki overgrowth syndrome

KEGG

DISEASE: Kosaki overgrowth syndrome

Entry

H02872                      Disease

Name

Kosaki overgrowth syndrome

Description

Kosaki overgrowth syndrome (KOGS) is a novel syndrome characterized by skeletal overgrowth. Moreover, various degrees of abnormalities of the connective tissue and central nervous system are also often present. It has been reported that gain-of-function mutations in PDGFRB cause this syndrome. PDGFRB encodes platelet-derived growth factor receptor-beta, which plays a critical role in cell growth.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H02872  Kosaki overgrowth syndrome

Gene

PDGFRB [HSA:5159] [KO:K05089]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K

Title

Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.

Journal

Am J Med Genet A 185:999-1003 (2021)
DOI:10.1002/ajmg.a.62027

Reference

Authors

Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K

Title

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Journal

J Pediatr 166:483-6 (2015)
DOI:10.1016/j.jpeds.2014.10.015

Reference

Authors

Takenouchi T, Okuno H, Kosaki K

Title

Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta.

Journal

Am J Med Genet C Semin Med Genet 181:650-657 (2019)
DOI:10.1002/ajmg.c.31755

LinkDB

» Japanese version

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