BIBAS
MCID: BRK002
MIFTS: 35

Birk-Barel Syndrome (BIBAS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Name: Birk-Barel Syndrome 58 12 54 76 15
Birk-Barel Mental Retardation Dysmorphism Syndrome 58 12 76 13 45 41
Birk Barel Mental Retardation Dysmorphism Syndrome 54 30 6
Mental Retardation with Hypotonia and Facial Dysmorphism 58 76
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 60
Intellectual Disability, Birk-Barel Type 60
Kcnk9 Imprinting Syndrome 54
Bibas 76

Characteristics:

Orphanet epidemiological data:

60
intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

33
birk-barel syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Birk-Barel Syndrome

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

Related Diseases for Birk-Barel Syndrome

Diseases related to Birk-Barel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kcnk9 imprinting syndrome 11.6

Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 intellectual disability 33 HP:0001249
3 muscular hypotonia 33 HP:0001252
4 dysphagia 33 HP:0002015
5 abnormal facial shape 33 HP:0001999
6 thick eyebrow 33 HP:0000574
7 feeding difficulties in infancy 33 HP:0008872
8 short philtrum 33 HP:0000322
9 sacral dimple 33 HP:0000960
10 highly arched eyebrow 33 HP:0002553
11 narrow forehead 33 HP:0000341
12 broad eyebrow 33 HP:0011229
13 submucous cleft soft palate 33 HP:0011819

Clinical features from OMIM:

612292

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5 KCNK9
2 no phenotypic analysis MP:0003012 9.26 KCNK1 KCNK3 KCNK5 KCNK9
3 respiratory system MP:0005388 8.92 KCNK3 KCNK5 KCNK9 TRAPPC9

Drugs & Therapeutics for Birk-Barel Syndrome

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

Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome

Genetic Tests for Birk-Barel Syndrome

Genetic tests related to Birk-Barel Syndrome:

# Genetic test Affiliating Genes
1 Birk Barel Mental Retardation Dysmorphism Syndrome 30 KCNK9

Anatomical Context for Birk-Barel Syndrome

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

# Title Authors Year
1
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. ( 30690205 )
2019
2
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. ( 18678320 )
2008

Variations for Birk-Barel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 KCNK9 p.Gly236Arg VAR_054373 rs121908332

ClinVar genetic disease variations for Birk-Barel Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNK9 NM_001282534.1(KCNK9): c.706G> A (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh37 Chromosome 8, 140630920: 140630920
2 KCNK9 NM_001282534.1(KCNK9): c.706G> A (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh38 Chromosome 8, 139618677: 139618677
3 KCNK9 NM_001282534.1(KCNK9): c.392G> A (p.Arg131His) single nucleotide variant Conflicting interpretations of pathogenicity rs867543866 GRCh37 Chromosome 8, 140631234: 140631234
4 KCNK9 NM_001282534.1(KCNK9): c.392G> A (p.Arg131His) single nucleotide variant Conflicting interpretations of pathogenicity rs867543866 GRCh38 Chromosome 8, 139618991: 139618991
5 KCNK9 NM_001282534.1(KCNK9): c.706G> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh38 Chromosome 8, 139618677: 139618677
6 KCNK9 NM_001282534.1(KCNK9): c.706G> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh37 Chromosome 8, 140630920: 140630920

Expression for Birk-Barel Syndrome

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

Pathways for Birk-Barel Syndrome

Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
2
Show member pathways
12.73 KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
3
Show member pathways
12.65 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK9
4
Show member pathways
12.43 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
5
Show member pathways
12.32 KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
6
Show member pathways
11.6 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK9
7
Show member pathways
11.47 KCNK3 KCNK9
8
Show member pathways
11.19 KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
9 11.18 KCNK1 KCNK3

GO Terms for Birk-Barel Syndrome

Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.5 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 integral component of plasma membrane GO:0005887 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.7 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 regulation of ion transmembrane transport GO:0034765 9.5 KCNK10 KCNK13 KCNK5
3 potassium ion transport GO:0006813 9.5 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
4 cardiac conduction GO:0061337 9.26 KCNK1 KCNK3
5 potassium ion transmembrane transport GO:0071805 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.43 KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
2 voltage-gated ion channel activity GO:0005244 9.26 KCNK10 KCNK13
3 potassium ion leak channel activity GO:0022841 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
4 voltage-gated potassium channel activity GO:0005249 9.16 KCNK1 KCNK5

Sources for Birk-Barel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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