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 54 12 24 71 13 69
Birk-Barel Syndrome 12 50 71 14
Mental Retardation with Hypotonia and Facial Dysmorphism 24 71
Birk Barel Mental Retardation Dysmorphism Syndrome 50 29
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 56
Intellectual Disability, Birk-Barel Type 56
Bibas 71

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare neurological diseases


Summaries for Birk-Barel Mental Retardation Dysmorphism Syndrome

NIH Rare Diseases : 50 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 exostoses, multiple, type 1, and has symptoms including dysphagia, short philtrum and intellectual disability. 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:

id Related Disease Score Top Affiliating Genes
1 kcnk9 imprinting syndrome 11.3
2 exostoses, multiple, type 1 6.4 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 KCNK10 KCNK18 KCNK3 KCNK5 KCNK9
2 no phenotypic analysis MP:0003012 8.92 KCNK1 KCNK3 KCNK5 KCNK9

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:

id Genetic test Affiliating Genes
1 Birk Barel Mental Retardation Dysmorphism Syndrome 29
2 Birk-Barel Mental Retardation Dysmorphism Syndrome 24 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:

id 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
id 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
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.92 KCNK1 KCNK18 KCNK3 KCNK5

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.87 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2 ion transport GO:0006811 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 9.26 KCNK5 KCNK9
7 potassium ion transport GO:0006813 9.17 KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

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

id 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 8.62 KCNK1 KCNK3

Sources for Birk-Barel Mental Retardation Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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