Birk-Barel Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Name: Birk-Barel Syndrome ⁵⁷ ¹² ⁵³ ⁷⁵ ¹⁵

Birk-Barel Mental Retardation Dysmorphism Syndrome ⁵⁷ ¹² ⁷⁵ ¹³ ⁴⁴ ⁴⁰

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 syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 612292

Disease Ontology ¹² DOID:0050675

MeSH ⁴⁴ C567357 D008607

Orphanet ⁵⁹ ORPHA166108

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C2676770

SNOMED-CT via HPO ⁶⁹ 263681008 27272007 249729002 more

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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. 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. Related phenotypes are high palate and intellectual disability

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

Wikipedia : ⁷⁶ Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...

Description from OMIM: 612292

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Related Diseases for Birk-Barel Syndrome

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

#	Related Disease	Score	Top Affiliating Genes
1	kcnk9 imprinting syndrome	11.6

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Symptoms & Phenotypes for Birk-Barel Syndrome

Clinical features from OMIM:

612292

Human phenotypes related to Birk-Barel Syndrome:

³² (show all 13)

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

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.7	KCNK10 KCNK13 KCNK18 KCNK3 KCNK5 KCNK9
2	no phenotypic analysis	MP:0003012	9.26	KCNK1 KCNK3 KCNK5 KCNK9
3	respiratory system	MP:0005388	8.92	KCNK3 KCNK5 KCNK9 TRAPPC9

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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

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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

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Anatomical Context for Birk-Barel Syndrome

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Publications for Birk-Barel Syndrome

Articles related to Birk-Barel 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 )	Barel O....Birk O.S.	2008

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Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNK9	Potassium Two Pore Domain Channel Subfamily K Member 9	Protein Coding	1675.45	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	28333430 18678320 27151206
2	KCNK18	Potassium Two Pore Domain Channel Subfamily K Member 18	Protein Coding	16.42	DISEASES inferred ¹⁵
3	KCNK5	Potassium Two Pore Domain Channel Subfamily K Member 5	Protein Coding	16.23	DISEASES inferred ¹⁵
4	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	16.18	DISEASES inferred ¹⁵
5	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	15.72	DISEASES inferred ¹⁵
6	KCNK13	Potassium Two Pore Domain Channel Subfamily K Member 13	Protein Coding	8.13	DISEASES inferred ¹⁵
7	PEG13	Paternally Expressed 13	RNA Gene	7.54	DISEASES inferred ¹⁵
8	KCNK10	Potassium Two Pore Domain Channel Subfamily K Member 10	Protein Coding	6.5	DISEASES inferred ¹⁵
9	KCNK1	Potassium Two Pore Domain Channel Subfamily K Member 1	Protein Coding	6.42	DISEASES inferred ¹⁵

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Variations for Birk-Barel Syndrome

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

⁷⁵

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

ClinVar genetic disease variations for Birk-Barel 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.392G> A (p.Arg131His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs867543866	GRCh37	Chromosome 8, 140631234: 140631234
4	KCNK9	NM_001282534.1(KCNK9): c.392G> A (p.Arg131His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs867543866	GRCh38	Chromosome 8, 139618991: 139618991
5	KCNK9	NM_001282534.1(KCNK9): c.706G> C (p.Gly236Arg)	single nucleotide variant	Pathogenic	rs121908332	GRCh38	Chromosome 8, 139618677: 139618677
6	KCNK9	NM_001282534.1(KCNK9): c.706G> C (p.Gly236Arg)	single nucleotide variant	Pathogenic	rs121908332	GRCh37	Chromosome 8, 140630920: 140630920

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Expression for Birk-Barel Syndrome

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

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Pathways for Birk-Barel Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.13	KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
2	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.73	KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
3	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.65	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK9
4	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.43	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
5	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.32	KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
6	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.6	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK9
7	Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics ⁶¹ Show member pathways Nicotine Activity on Dopaminergic Neurons ¹ SNARE interactions in vesicular transport ³⁷	11.47	KCNK3 KCNK9
8	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.19	KCNK1 KCNK10 KCNK13 KCNK3 KCNK5 KCNK9
9	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11.18	KCNK1 KCNK3

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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	9.5	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 Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.7	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2	regulation of ion transmembrane transport	GO:0034765	9.54	KCNK10 KCNK13 KCNK5
3	potassium ion transport	GO:0006813	9.5	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
4	cardiac conduction	GO:0061337	9.32	KCNK1 KCNK3
5	cellular potassium ion transport	GO:0071804	9.26	KCNK5 KCNK9
6	potassium ion transmembrane transport	GO:0071805	9.17	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5

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	9.5	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
2	voltage-gated ion channel activity	GO:0005244	9.26	KCNK10 KCNK13
3	potassium ion leak channel activity	GO:0022841	9.17	KCNK1 KCNK10 KCNK13 KCNK18 KCNK3 KCNK5
4	voltage-gated potassium channel activity	GO:0005249	9.16	KCNK1 KCNK5

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Sources for Birk-Barel Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Birk-Barel Syndrome (BIBAS)

Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Birk-Barel Syndrome

Related Diseases for Birk-Barel Syndrome

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

Symptoms & Phenotypes for Birk-Barel Syndrome

Clinical features from OMIM:

Human phenotypes related to Birk-Barel Syndrome:

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

Drugs & Therapeutics 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:

Anatomical Context for Birk-Barel Syndrome

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

Variations for Birk-Barel Syndrome

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

ClinVar genetic disease variations for Birk-Barel Syndrome:

Expression for Birk-Barel Syndrome

Pathways for Birk-Barel Syndrome

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

GO Terms for Birk-Barel Syndrome

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

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

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

Sources for Birk-Barel Syndrome