MCID: KCN019
MIFTS: 10

Kcnk9 Imprinting Syndrome

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Kcnk9 Imprinting Syndrome

MalaCards integrated aliases for Kcnk9 Imprinting Syndrome:

Name: Kcnk9 Imprinting Syndrome 25 26
Birk-Barel Mental Retardation Dysmorphism Syndrome 26 74
Birk-Barel Syndrome 25 26
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 26
Mental Retardation with Hypotonia and Facial Dysmorphism 26
Intellectual Disability, Birk-Barel Type 26

Characteristics:

GeneReviews:

25
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 74 C2676770

Summaries for Kcnk9 Imprinting Syndrome

Genetics Home Reference : 26 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 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 syndrome 11.4

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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