MCID: BRK009
MIFTS: 33

Birk-Barel Mental Retardation Dysmorphism Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal 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 53 12 71 13 69
Birk-Barel Syndrome 53 12 49 71 14
Mental Retardation with Hypotonia and Facial Dysmorphism 53 71
Birk Barel Mental Retardation Dysmorphism Syndrome 49 28
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 55
Intellectual Disability, Birk-Barel Type 55
Bibas 71

Characteristics:

Orphanet epidemiological data:

55
intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

31
birk-barel mental retardation dysmorphism syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Birk-Barel Mental Retardation Dysmorphism Syndrome

NIH Rare Diseases : 49 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). Last updated: 10/15/2014

MalaCards based summary : Birk-Barel Mental Retardation Dysmorphism Syndrome, also known as birk-barel syndrome, is related to kcnk9 imprinting syndrome, and has symptoms including high palate, intellectual disability and muscular hypotonia. 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 nervous system and no phenotypic analysis

UniProtKB/Swiss-Prot : 71 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 11.6

Symptoms & Phenotypes for Birk-Barel Mental Retardation Dysmorphism Syndrome

Clinical features from OMIM:

612292

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 intellectual disability 31 HP:0001249
3 muscular hypotonia 31 HP:0001252
4 dysphagia 31 HP:0002015
5 abnormal facial shape 31 HP:0001999
6 thick eyebrow 31 HP:0000574
7 feeding difficulties in infancy 31 HP:0008872
8 short philtrum 31 HP:0000322
9 sacral dimple 31 HP:0000960
10 highly arched eyebrow 31 HP:0002553
11 narrow forehead 31 HP:0000341
12 broad eyebrow 31 HP:0011229
13 submucous cleft soft palate 31 HP:0011819

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 KCNK10 KCNK18 KCNK3 KCNK5 KCNK9 TRAPPC9
2 no phenotypic analysis MP:0003012 8.92 KCNK5 KCNK9 KCNK1 KCNK3

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 28 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:

71
# 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> C (p.Gly236Arg) single nucleotide variant Pathogenic rs121908332 GRCh38 Chromosome 8, 139618677: 139618677

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 transport GO:0006810 9.95 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 ion transport GO:0006811 9.87 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
3 regulation of ion transmembrane transport GO:0034765 9.8 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
4 potassium ion transport GO:0006813 9.7 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
5 potassium ion transmembrane transport GO:0071805 9.5 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
6 cardiac conduction GO:0061337 9.43 KCNK1 KCNK3
7 cellular potassium ion transport GO:0071804 9.37 KCNK5 KCNK9
8 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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