KEGG DISEASE: Au-Kline syndrome

KEGG

DISEASE: Au-Kline syndrome

Entry

H01930                      Disease

Name

Au-Kline syndrome

Description

Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and skeletal/connective tissue abnormalities. Facial dysmorphism and multiple congenital anomalies overlap with Kabuki syndrome.

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
    H01930  Au-Kline syndrome

Gene

HNRNPK [HSA:3190] [KO:K12886]

Comment

See also H00570 Kabuki syndrome.

Other DBs

ICD-11:

OMIM:

Reference

Authors

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U

Title

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Journal

Clin Genet 90:258-62 (2016)
DOI:10.1111/cge.12773

Reference

Authors

Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD

Title

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Journal

Hum Mutat 36:1009-1014 (2015)
DOI:10.1002/humu.22837

LinkDB

» Japanese version

DBGET integrated database retrieval system