MCID: KCN019
MIFTS: 14

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 24 25
Birk-Barel Mental Retardation Dysmorphism Syndrome 25 72
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 72 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). KCNK9 KCNK9 imprinting syndrome is also characterized by intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Many affected individuals have limited speech throughout life. KCNK9 This condition is associated with unusual facial features, including an elongated face that narrows at the temples; an upper lip that points outward (called a tented lip); a short, broad space between the lip and the nose (philtrum); a small lower jaw (micrognathia); and abnormally shaped eyebrows. Some affected individuals have an opening in the roof of the mouth (cleft palate). In addition to unusual facial features, some people with KCNK9 imprinting syndrome have a long neck, a narrow chest, and tapered fingers. KCNK9

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

GeneReviews: NBK425128

Related Diseases for Kcnk9 Imprinting Syndrome

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 birk-barel syndrome 11.9
2 motor peripheral neuropathy 10.4
3 neuropathy 10.4
4 cleft palate, isolated 10.3
5 alacrima, achalasia, and mental retardation syndrome 10.3
6 dysphagia 10.3
7 hypotonia 10.3
8 palatopharyngeal incompetence 10.1
9 sleep apnea 10.1
10 scoliosis 10.1
11 lacrimal duct obstruction 10.1
12 hypoglycemia 10.1

Graphical network of the top 20 diseases related to Kcnk9 Imprinting Syndrome:



Diseases related to Kcnk9 Imprinting Syndrome

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

MalaCards organs/tissues related to Kcnk9 Imprinting Syndrome:

41
Cortex

Publications for Kcnk9 Imprinting Syndrome

Articles related to Kcnk9 Imprinting Syndrome:

(show all 11)
# Title Authors PMID Year
1
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. 38 4
27151206 2016
2
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. 38 4
24342771 2014
3
Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex. 4
23236211 2014
4
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. 4
18678320 2008
5
TASK-3 two-pore domain potassium channels enable sustained high-frequency firing in cerebellar granule neurons. 4
17728447 2007
6
Fenamates and diltiazem modulate lipid-sensitive mechano-gated 2P domain K(+) channels. 4
16075240 2005
7
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. 4
8464127 1993
8
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. 38
30690205 2019
9
Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. 38
28882594 2017
10
KCNK9 Imprinting Syndrome 38
28333430 2017
11
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. 38
24980697 2014

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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