KEGG DISEASE: Gillessen-Kaesbach-Nishimura syndrome

KEGG

DISEASE: Gillessen-Kaesbach-Nishimura syndrome

Entry

H02956                      Disease

Name

Gillessen-Kaesbach-Nishimura syndrome

Description

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations. It has been reported that mutations in ALG9 cause GIKANIS. ALG9 encodes alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H02956  Gillessen-Kaesbach-Nishimura syndrome

Gene

ALG9 [HSA:79796] [KO:K03846]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Tham E, Eklund EA, Hammarsjo A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albage M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G

Title

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Journal

Eur J Hum Genet 24:198-207 (2016)
DOI:10.1038/ejhg.2015.91

Reference

Authors

Kaymak D, Alpay V, Davutoglu EA, Elci O, Yigin AK, Tuysuz B, Madazli R

Title

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Journal

Am J Med Genet A 191:617-623 (2023)
DOI:10.1002/ajmg.a.63024

LinkDB

» Japanese version

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