Details of Disease | DrugMAP

General Information of Disease (ID: DIST62BO)

Disease Name	Au-Kline syndrome
Synonyms	congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability; congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation; hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation; Okamoto syndrome; neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation; Au-Kline syndrome; hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability; AUKS
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISQRIW2: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome DIST62BO: Au-Kline syndrome
Disease Identifiers	MONDO ID MONDO_0014700 UMLS CUI C4225274 MedGen ID 900671 Orphanet ID 453504 SNOMED CT ID 1222710008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNRNPK	OTNPRM8U	Definitive	Autosomal dominant	[1]
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References

1	Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14.