MCID: BRK009
MIFTS: 33

Birk-Barel Mental Retardation Dysmorphism Syndrome

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

Aliases & Classifications for Birk-Barel Mental Retardation Dysmorphism Syndrome

MalaCards integrated aliases for Birk-Barel Mental Retardation Dysmorphism Syndrome:

Name: Birk-Barel Mental Retardation Dysmorphism Syndrome 57 12 75 13 40 73
Birk-Barel Syndrome 57 12 53 75 15
Birk Barel Mental Retardation Dysmorphism Syndrome 53 29 6
Mental Retardation with Hypotonia and Facial Dysmorphism 57 75
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 59
Intellectual Disability, Birk-Barel Type 59
Bibas 75

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
birk-barel mental retardation dysmorphism syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Birk-Barel Mental Retardation Dysmorphism 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 Mental Retardation Dysmorphism Syndrome, also known as birk-barel syndrome, is related to kcnk9 imprinting syndrome. An important gene associated with Birk-Barel Mental Retardation Dysmorphism 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 short philtrum

UniProtKB/Swiss-Prot : 75 Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.

Description from OMIM: 612292

Related Diseases for Birk-Barel Mental Retardation Dysmorphism Syndrome

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

# Related Disease Score Top Affiliating Genes
1 kcnk9 imprinting syndrome 11.9

Symptoms & Phenotypes for Birk-Barel Mental Retardation Dysmorphism Syndrome

Clinical features from OMIM:

612292

Human phenotypes related to Birk-Barel Mental Retardation Dysmorphism Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 short philtrum 32 HP:0000322
3 narrow forehead 32 HP:0000341
4 thick eyebrow 32 HP:0000574
5 sacral dimple 32 HP:0000960
6 intellectual disability 32 HP:0001249
7 muscular hypotonia 32 HP:0001252
8 abnormal facial shape 32 HP:0001999
9 dysphagia 32 HP:0002015
10 highly arched eyebrow 32 HP:0002553
11 feeding difficulties in infancy 32 HP:0008872
12 broad eyebrow 32 HP:0011229
13 submucous cleft soft palate 32 HP:0011819

MGI Mouse Phenotypes related to Birk-Barel Mental Retardation Dysmorphism Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.63 KCNK10 KCNK18 KCNK3 KCNK5 KCNK9 TRAPPC9
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 Mental Retardation Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Birk-Barel Mental Retardation Dysmorphism Syndrome

Genetic Tests for Birk-Barel Mental Retardation Dysmorphism Syndrome

Genetic tests related to Birk-Barel Mental Retardation Dysmorphism Syndrome:

# Genetic test Affiliating Genes
1 Birk Barel Mental Retardation Dysmorphism Syndrome 29 KCNK9

Anatomical Context for Birk-Barel Mental Retardation Dysmorphism Syndrome

Publications for Birk-Barel Mental Retardation Dysmorphism Syndrome

Articles related to Birk-Barel Mental Retardation Dysmorphism Syndrome:

# Title Authors Year
1
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 Mental Retardation Dysmorphism Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 KCNK9 p.Gly236Arg VAR_054373 rs121908332

ClinVar genetic disease variations for Birk-Barel Mental Retardation Dysmorphism 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.706G> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh38 Chromosome 8, 139618677: 139618677
4 KCNK9 NM_001282534.1(KCNK9): c.706G> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh37 Chromosome 8, 140630920: 140630920

Expression for Birk-Barel Mental Retardation Dysmorphism Syndrome

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

Pathways for Birk-Barel Mental Retardation Dysmorphism Syndrome

Pathways related to Birk-Barel Mental Retardation Dysmorphism 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 Mental Retardation Dysmorphism Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 potassium ion transport GO:0006813 9.7 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
3 regulation of ion transmembrane transport GO:0034765 9.54 KCNK10 KCNK13 KCNK5
4 potassium ion transmembrane transport GO:0071805 9.5 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
5 cardiac conduction GO:0061337 9.4 KCNK1 KCNK3
6 cellular potassium ion transport GO:0071804 9.32 KCNK5 KCNK9
7 stabilization of membrane potential GO:0030322 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.5 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 voltage-gated potassium channel activity GO:0005249 9.33 KCNK1 KCNK5 KCNK9
3 voltage-gated ion channel activity GO:0005244 9.26 KCNK10 KCNK13
4 potassium ion leak channel activity GO:0022841 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

Sources for Birk-Barel Mental Retardation Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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