BIBAS
MCID: BRK002
MIFTS: 39

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 57 12 53 74 15
Birk-Barel Mental Retardation Dysmorphism Syndrome 57 12 74 13 44 40
Birk Barel Mental Retardation Dysmorphism Syndrome 53 29 6
Mental Retardation with Hypotonia and Facial Dysmorphism 57 74
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 59
Intellectual Disability, Birk-Barel Type 59
Kcnk9 Imprinting Syndrome 53
Bibas 74

Characteristics:

Orphanet epidemiological data:

59
intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
birk-barel syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050675
OMIM 57 612292
ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA166108
MedGen 42 C2676770

Summaries for Birk-Barel Syndrome

NIH Rare Diseases : 53 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 hypotonia. 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 skeletal muscle, and related phenotypes are dysphagia and short philtrum

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 : 74 Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.

Wikipedia : 75 Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...

More information 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 kcnk9 imprinting syndrome 12.1
2 hypotonia 10.5
3 motor peripheral neuropathy 10.4
4 neuropathy 10.4
5 cleft palate, isolated 10.3
6 alacrima, achalasia, and mental retardation syndrome 10.3
7 dysphagia 10.3
8 palatopharyngeal incompetence 10.1
9 sleep apnea 10.1
10 scoliosis 10.1
11 lacrimal duct obstruction 10.1
12 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Birk-Barel Syndrome:



Diseases related to Birk-Barel Syndrome

Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 Frequent (79-30%) HP:0002015
2 short philtrum 59 32 Frequent (79-30%) HP:0000322
3 narrow forehead 59 32 Frequent (79-30%) HP:0000341
4 sacral dimple 59 32 Frequent (79-30%) HP:0000960
5 highly arched eyebrow 59 32 Frequent (79-30%) HP:0002553
6 high palate 32 HP:0000218
7 intellectual disability 32 HP:0001249
8 muscular hypotonia 32 HP:0001252
9 dysphonia 59 Frequent (79-30%)
10 global developmental delay 59 Frequent (79-30%)
11 abnormal facial shape 32 HP:0001999
12 thick vermilion border 59 Frequent (79-30%)
13 thick eyebrow 32 HP:0000574
14 neonatal hypotonia 59 Frequent (79-30%)
15 feeding difficulties in infancy 32 HP:0008872
16 micrognathia 59 Frequent (79-30%)
17 open mouth 59 Frequent (79-30%)
18 dolichocephaly 59 Frequent (79-30%)
19 broad philtrum 59 Frequent (79-30%)
20 hypomimic face 59 Frequent (79-30%)
21 protruding ear 59 Frequent (79-30%)
22 narrow nasal bridge 59 Frequent (79-30%)
23 broad nasal tip 59 Frequent (79-30%)
24 hyperactivity 59 Frequent (79-30%)
25 generalized hypotonia 59 Frequent (79-30%)
26 high, narrow palate 59 Frequent (79-30%)
27 tented upper lip vermilion 59 Frequent (79-30%)
28 incisor macrodontia 59 Frequent (79-30%)
29 feeding difficulties 59 Frequent (79-30%)
30 fatigable weakness of skeletal muscles 59 Frequent (79-30%)
31 fatiguable weakness of proximal limb muscles 59 Frequent (79-30%)
32 nasogastric tube feeding 59 Frequent (79-30%)
33 areflexia 59 Occasional (29-5%)
34 tongue fasciculations 59 Occasional (29-5%)
35 limited elbow flexion/extension 59 Occasional (29-5%)
36 congenital finger flexion contractures 59 Occasional (29-5%)
37 motor axonal neuropathy 59 Occasional (29-5%)
38 spinal muscular atrophy 59 Occasional (29-5%)
39 contractures involving the joints of the feet 59 Occasional (29-5%)
40 submucous cleft soft palate 32 HP:0011819
41 broad eyebrow 32 HP:0011229

Clinical features from OMIM:

612292

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5 KCNK9

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 29 KCNK9

Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

41
Tongue, Skeletal Muscle

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

# Title Authors PMID Year
1
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. 38 8 71
18678320 2008
2
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. 8 71
27151206 2016
3
KCNK9 Imprinting Syndrome 71
28333430 2017
4
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. 38
30690205 2019
5
Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. 38
28882594 2017
6
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. 38
24980697 2014
7
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. 38
24342771 2014

Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNK9 NM_001282534.2(KCNK9): c.706G> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 8:140630920-140630920 8:139618677-139618677
2 KCNK9 NM_001282534.2(KCNK9): c.706G> A (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 8:140630920-140630920 8:139618677-139618677
3 KCNK9 NM_001282534.2(KCNK9): c.392G> A (p.Arg131His) single nucleotide variant Conflicting interpretations of pathogenicity rs867543866 8:140631234-140631234 8:139618991-139618991
4 KCNK9 NM_001282534.2(KCNK9): c.223G> A (p.Gly75Ser) single nucleotide variant Uncertain significance 8:140715013-140715013 8:139702770-139702770

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

74
# Symbol AA change Variation ID SNP ID
1 KCNK9 p.Gly236Arg VAR_054373 rs121908332

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 KCNK9 KCNK5 KCNK3 KCNK13 KCNK10 KCNK1
2
Show member pathways
12.73 KCNK9 KCNK5 KCNK3 KCNK13 KCNK10 KCNK1
3
Show member pathways
12.65 KCNK9 KCNK3 KCNK18 KCNK13 KCNK10 KCNK1
4
Show member pathways
12.43 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10
5
Show member pathways
12.32 KCNK9 KCNK5 KCNK3 KCNK13 KCNK10 KCNK1
6
Show member pathways
11.6 KCNK9 KCNK3 KCNK18 KCNK13 KCNK10 KCNK1
7
Show member pathways
11.47 KCNK9 KCNK3
8
Show member pathways
11.19 KCNK9 KCNK5 KCNK3 KCNK13 KCNK10 KCNK1
9 11.18 KCNK3 KCNK1

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 plasma membrane GO:0005887 9.17 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10

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 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10
2 regulation of ion transmembrane transport GO:0034765 9.5 KCNK5 KCNK13 KCNK10
3 potassium ion transport GO:0006813 9.5 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10
4 cardiac conduction GO:0061337 9.26 KCNK3 KCNK1
5 potassium ion transmembrane transport GO:0071805 9.17 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10

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 KCNK9 KCNK5 KCNK3 KCNK13 KCNK10 KCNK1
2 potassium ion leak channel activity GO:0022841 9.17 KCNK9 KCNK5 KCNK3 KCNK18 KCNK13 KCNK10
3 voltage-gated potassium channel activity GO:0005249 9.16 KCNK5 KCNK1

Sources for Birk-Barel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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