Birk-Barel Syndrome (BIBAS)

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Disease Ontology 12 DOID:0050675 OMIM 58 612292 MeSH 45 C567357 D008607 ICD10 via Orphanet 35 Q87.8

Orphanet 60 ORPHA166108 MedGen 43 C2676770 SNOMED-CT via HPO 70 228156007 247578003 248200007 249729002 263681008 27272007 288939007 311897005 32003007 398151007 398152000 398206004 398302004 40739000 433096001 91138005 more

NIH Rare Diseases : ⁵⁴ 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).

MalaCards based summary : Birk-Barel Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to kcnk9 imprinting syndrome. An important gene associated with Birk-Barel Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. Related phenotypes are high palate and intellectual disability

Disease Ontology : ¹² An autosomal dominant disease that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has material basis in heterozygous mutation in the KCNK9 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : ⁷⁶ Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.

Wikipedia : ⁷⁷ Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...

Description from OMIM: 612292

Clinical features from OMIM:

612292

Search Clinical Trials , NIH Clinical Center for Birk-Barel Syndrome

Search GEO for disease gene expression data for Birk-Barel Syndrome.