MCID: KCN019
MIFTS: 22

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 43
Birk-Barel Mental Retardation Dysmorphism Syndrome 43 71
Birk-Barel Syndrome 25 43
Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome 43
Mental Retardation with Hypotonia and Facial Dysmorphism 43
Intellectual Disability, Birk-Barel Type 43

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:



Summaries for Kcnk9 Imprinting Syndrome

MedlinePlus Genetics : 43 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 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.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.

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

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 13)
# Related Disease Score Top Affiliating Genes
1 birk-barel syndrome 11.3
2 cleft palate, isolated 10.3
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 dysphagia 10.3
5 hypotonia 10.3
6 microcephaly 10.2
7 motor peripheral neuropathy 10.2
8 ring chromosome 8 10.2
9 ring chromosome 10.2
10 autosomal monosomy 10.2
11 scoliosis 10.1
12 lacrimal duct obstruction 10.1
13 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

Human phenotypes related to Kcnk9 Imprinting Syndrome:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 dysphonia 31 frequent (33%) HP:0001618
2 dysphagia 31 frequent (33%) HP:0002015
3 global developmental delay 31 frequent (33%) HP:0001263
4 thick vermilion border 31 frequent (33%) HP:0012471
5 neonatal hypotonia 31 frequent (33%) HP:0001319
6 micrognathia 31 frequent (33%) HP:0000347
7 high, narrow palate 31 frequent (33%) HP:0002705
8 dolichocephaly 31 frequent (33%) HP:0000268
9 open mouth 31 frequent (33%) HP:0000194
10 highly arched eyebrow 31 frequent (33%) HP:0002553
11 protruding ear 31 frequent (33%) HP:0000411
12 short philtrum 31 frequent (33%) HP:0000322
13 sacral dimple 31 frequent (33%) HP:0000960
14 narrow nasal bridge 31 frequent (33%) HP:0000446
15 tented upper lip vermilion 31 frequent (33%) HP:0010804
16 broad philtrum 31 frequent (33%) HP:0000289
17 hyperactivity 31 frequent (33%) HP:0000752
18 broad nasal tip 31 frequent (33%) HP:0000455
19 generalized hypotonia 31 frequent (33%) HP:0001290
20 narrow forehead 31 frequent (33%) HP:0000341
21 hypomimic face 31 frequent (33%) HP:0000338
22 fatiguable weakness of proximal limb muscles 31 frequent (33%) HP:0030200
23 nasogastric tube feeding 31 frequent (33%) HP:0040288
24 incisor macrodontia 31 frequent (33%) HP:0011081
25 areflexia 31 occasional (7.5%) HP:0001284
26 congenital finger flexion contractures 31 occasional (7.5%) HP:0005879
27 motor axonal neuropathy 31 occasional (7.5%) HP:0007002
28 contractures involving the joints of the feet 31 occasional (7.5%) HP:0008366
29 tongue fasciculations 31 occasional (7.5%) HP:0001308
30 spinal muscular atrophy 31 occasional (7.5%) HP:0007269
31 limited elbow flexion/extension 31 occasional (7.5%) HP:0005060

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:

40
Tongue, Cortex

Publications for Kcnk9 Imprinting Syndrome

Articles related to Kcnk9 Imprinting Syndrome:

(show all 14)
# Title Authors PMID Year
1
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. 25 61
27151206 2016
2
Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. 25 61
24342771 2014
3
Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex. 25
23236211 2014
4
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. 25
18678320 2008
5
TASK-3 two-pore domain potassium channels enable sustained high-frequency firing in cerebellar granule neurons. 25
17728447 2007
6
Fenamates and diltiazem modulate lipid-sensitive mechano-gated 2P domain K(+) channels. 25
16075240 2005
7
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. 25
8464127 1993
8
46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study. 61
33316910 2020
9
Role of chimeric transcript formation in the pathogenesis of birth defects. 61
33118233 2020
10
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
11
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. 61
30690205 2020
12
Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. 61
28882594 2017
13
KCNK9 Imprinting Syndrome 61
28333430 2017
14
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. 61
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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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