BIBAS
MCID: BRK002
MIFTS: 41

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 56 12 52 73 29 6 15
Birk-Barel Mental Retardation Dysmorphism Syndrome 56 12 73 13 43 39
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 52 58
Mental Retardation with Hypotonia and Facial Dysmorphism 56 73
Intellectual Disability, Birk-Barel Type 58
Kcnk9 Imprinting Syndrome 52
Bibas 73

Characteristics:

Orphanet epidemiological data:

58
intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

31
birk-barel syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Birk-Barel Syndrome

NIH Rare Diseases : 52 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 skeletal muscle and tongue, and related phenotypes are global developmental delay and thick vermilion border

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

Related Diseases for Birk-Barel Syndrome

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 kcnk9 imprinting syndrome 12.1
2 hypotonia 10.6
3 motor peripheral neuropathy 10.5
4 cleft palate, isolated 10.3
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 dysphagia 10.3
7 scoliosis 10.2
8 lacrimal duct obstruction 10.2
9 hypoglycemia 10.2
10 adrenal cortical adenocarcinoma 10.0 KCNK9 KCNK13
11 integrative agnosia 10.0 KCNK9 KCNK3
12 autosomal recessive non-syndromic intellectual disability 9.3 TRAPPC9 PEG13 KCNK9
13 migraine with or without aura 1 9.2 KCNK4 KCNK2 KCNK18 KCNK10

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
3 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
6 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
7 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
8 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
9 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
10 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
11 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
12 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
13 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
14 narrow nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000446
15 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
16 broad philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000289
17 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
18 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
19 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
20 narrow forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000341
21 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
22 fatiguable weakness of proximal limb muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030200
23 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
24 incisor macrodontia 58 31 frequent (33%) Frequent (79-30%) HP:0011081
25 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
26 congenital finger flexion contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0005879
27 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
28 contractures involving the joints of the feet 58 31 occasional (7.5%) Occasional (29-5%) HP:0008366
29 tongue fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0001308
30 spinal muscular atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007269
31 limited elbow flexion/extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0005060
32 intellectual disability 31 HP:0001249
33 muscular hypotonia 31 HP:0001252
34 abnormal facial shape 31 HP:0001999
35 thick eyebrow 31 HP:0000574
36 feeding difficulties in infancy 31 HP:0008872
37 feeding difficulties 58 Frequent (79-30%)
38 high palate 31 HP:0000218
39 submucous cleft soft palate 31 HP:0011819
40 broad eyebrow 31 HP:0011229
41 fatigable weakness of skeletal muscles 58 Frequent (79-30%)

Clinical features from OMIM:

612292

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 KCNK10 KCNK13 KCNK18 KCNK2 KCNK3 KCNK4

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 Syndrome 29 KCNK9

Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

40
Skeletal Muscle, Tongue

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. 56 6 61
18678320 2008
2
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. 6 56
27151206 2016
3
KCNK9 Imprinting Syndrome 6
28333430 2017
4
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
5
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. 61
30690205 2020
6
Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. 61
28882594 2017
7
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. 61
24980697 2014
8
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. 61
24342771 2014

Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNK9 NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)SNV Pathogenic 397636 rs121908332 8:140630920-140630920 8:139618677-139618677
2 KCNK9 NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)SNV Pathogenic 4741 rs121908332 8:140630920-140630920 8:139618677-139618677
3 KCNK9 NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)SNV Conflicting interpretations of pathogenicity 372887 rs867543866 8:140631234-140631234 8:139618991-139618991
4 KCNK9 NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)SNV Uncertain significance 452563 rs1166889219 8:140715211-140715211 8:139702968-139702968
5 KCNK9 NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)SNV Uncertain significance 634574 rs1563758595 8:140715013-140715013 8:139702770-139702770

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

73
# 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
13.31 PPP1R9A KCNK9 KCNK4 KCNK3 KCNK2 KCNK16
2
Show member pathways
12.86 KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
3
Show member pathways
12.83 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
4
Show member pathways
12.54 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5
Show member pathways
12.45 KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
6
Show member pathways
11.65 KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
7
Show member pathways
11.45 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
8 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 membrane GO:0016021 9.91 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2 plasma membrane GO:0005886 9.81 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3 integral component of plasma membrane GO:0005887 9.28 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
4 potassium channel complex GO:0034705 8.96 KCNK4 KCNK1

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 9.91 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2 potassium ion transmembrane transport GO:0071805 9.81 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3 regulation of ion transmembrane transport GO:0034765 9.62 KCNK4 KCNK16 KCNK13 KCNK10
4 stabilization of membrane potential GO:0030322 9.61 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5 memory GO:0007613 9.54 KCNK4 KCNK2 KCNK10
6 cardiac conduction GO:0061337 9.43 KCNK3 KCNK1
7 cochlea development GO:0090102 9.4 KCNK3 KCNK2
8 potassium ion transport GO:0006813 9.28 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

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

# Name GO ID Score Top Affiliating Genes
1 potassium ion leak channel activity GO:0022841 9.61 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2 voltage-gated ion channel activity GO:0005244 9.46 KCNK4 KCNK16 KCNK13 KCNK10
3 voltage-gated potassium channel activity GO:0005249 9.43 KCNK9 KCNK2 KCNK1
4 outward rectifier potassium channel activity GO:0015271 9.32 KCNK2 KCNK18
5 potassium channel activity GO:0005267 9.28 KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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