BIBARS
MCID: BRK002
MIFTS: 40
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Birk-Barel Syndrome (BIBARS)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Birk-Barel Syndrome:
Characteristics:Orphanet epidemiological data:58
intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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GARD :
20
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 and cleft palate, isolated. 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. Affiliated tissues include tongue, and related phenotypes are global developmental delay and short philtrum Disease Ontology : 12 A syndrome 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 : 73 Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. Wikipedia : 74 Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...
More information from OMIM:
612292
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Diseases related to Birk-Barel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of the top 20 diseases related to Birk-Barel Syndrome:![]() |
Human phenotypes related to Birk-Barel Syndrome:58 31 (show all 44)
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Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome |
MalaCards organs/tissues related to Birk-Barel Syndrome:40
Tongue
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Articles related to Birk-Barel Syndrome:
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ClinVar genetic disease variations for Birk-Barel Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:73
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Search
GEO
for disease gene expression data for Birk-Barel Syndrome.
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Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:
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