Details of Disease | DrugMAP

General Information of Disease (ID: DISH4Q9M)

Disease Name	Birk-Barel syndrome
Synonyms	intellectual disability, Birk-Barel type; intellectual disability with hypotonia and Facial Dysmorphism; Birk Barel mental retardation dysmorphism syndrome; Birk Barel intellectual disability dysmorphism syndrome; mental retardation with hypotonia and Facial Dysmorphism; KCNK9 Imprinting Syndrome; BIRK-Barel mental retardation dysmorphism syndrome; BIRK-Barel intellectual disability dysmorphism syndrome; intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome
Definition	Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISH4Q9M: Birk-Barel syndrome
Disease Identifiers	MONDO ID MONDO_0012856 MESH ID C567357 UMLS CUI C2676770 OMIM ID 612292 MedGen ID 393583 Orphanet ID 166108 SNOMED CT ID 764861005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNK9	TTL4FMB	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNK9	DTFR4NJ	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNK9	OT8P734M	Strong	Autosomal dominant	[2]
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References

1	Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.Eur J Med Genet. 2020 Jan;63(1):103619. doi: 10.1016/j.ejmg.2019.01.009. Epub 2019 Jan 25.
2	Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. 2008 Aug;83(2):193-9. doi: 10.1016/j.ajhg.2008.07.010.