MCID: KCN019
MIFTS: 10

Kcnk9 Imprinting Syndrome

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Kcnk9 Imprinting Syndrome

MalaCards integrated aliases for Kcnk9 Imprinting Syndrome:

Name: Kcnk9 Imprinting Syndrome 24 25
Birk-Barel Mental Retardation Dysmorphism Syndrome 25 73
Birk-Barel Syndrome 24 25
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 25
Mental Retardation with Hypotonia and Facial Dysmorphism 25
Intellectual Disability, Birk-Barel Type 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance for maternally inherited pathogenic variants in kcnk9 appears to be complete; however, the number of affected individuals with a molecularly confirmed diagnosis is so limited that no conclusions can be made at present...

Classifications:



External Ids:

UMLS 73 C2676770

Summaries for Kcnk9 Imprinting Syndrome

Genetics Home Reference : 25 KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth. As a result, affected infants have a lack of energy (lethargy), a weak cry, and they move less than normal. Facial weakness and a poor ability to suck cause feeding difficulties, which can lead to an inability to grow and gain weight (failure to thrive). Difficulty swallowing (dysphagia) often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanently bent joints (contractures) and abnormal curvature of the spine (scoliosis).

MalaCards based summary : Kcnk9 Imprinting Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to birk-barel mental retardation dysmorphism syndrome. An important gene associated with Kcnk9 Imprinting Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9).

GeneReviews: NBK425128

Related Diseases for Kcnk9 Imprinting Syndrome

Diseases related to Kcnk9 Imprinting Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 birk-barel mental retardation dysmorphism syndrome 12.1

Symptoms & Phenotypes for Kcnk9 Imprinting Syndrome

Drugs & Therapeutics for Kcnk9 Imprinting Syndrome

Search Clinical Trials , NIH Clinical Center for Kcnk9 Imprinting Syndrome

Genetic Tests for Kcnk9 Imprinting Syndrome

Anatomical Context for Kcnk9 Imprinting Syndrome

Publications for Kcnk9 Imprinting Syndrome

Articles related to Kcnk9 Imprinting Syndrome:

# Title Authors Year
1
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. ( 27151206 )
2016
2
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. ( 18678320 )
2008
3
KCNK9 Imprinting Syndrome ( 28333430 )
1993

Variations for Kcnk9 Imprinting Syndrome

Expression for Kcnk9 Imprinting Syndrome

Search GEO for disease gene expression data for Kcnk9 Imprinting Syndrome.

Pathways for Kcnk9 Imprinting Syndrome

GO Terms for Kcnk9 Imprinting Syndrome

Sources for Kcnk9 Imprinting 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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