Aliases & Classifications for Cask Disorders

MalaCards integrated aliases for Cask Disorders:

Name: Cask Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance for the micpch phenotype (associated with the heterozygous cask pathogenic loss-of-function variants) appears to be complete in the female individuals reported to date....

Summaries for Cask Disorders

MalaCards based summary : Cask Disorders is related to fg syndrome 4 and mental retardation and microcephaly with pontine and cerebellar hypoplasia. An important gene associated with Cask Disorders is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain and cerebellum.

GeneReviews: NBK169825

Related Diseases for Cask Disorders

Diseases related to Cask Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 fg syndrome 4 10.0
2 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.0
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 cerebellar hypoplasia 10.0
5 sensorineural hearing loss 10.0
6 microcephaly 10.0
7 movement disease 10.0
8 dystonia 10.0
9 pathologic nystagmus 10.0
10 x-linked intellectual disability, najm type 10.0
11 hypertonia 10.0
12 hypotonia 10.0
13 spasticity 10.0

Graphical network of the top 20 diseases related to Cask Disorders:



Diseases related to Cask Disorders

Symptoms & Phenotypes for Cask Disorders

Drugs & Therapeutics for Cask Disorders

Search Clinical Trials , NIH Clinical Center for Cask Disorders

Genetic Tests for Cask Disorders

Anatomical Context for Cask Disorders

MalaCards organs/tissues related to Cask Disorders:

40
Brain, Cerebellum

Publications for Cask Disorders

Articles related to Cask Disorders:

(show all 21)
# Title Authors PMID Year
1
Identification and in Silico Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia. 24
31736593 2019
2
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. 24
30549415 2019
3
Novel CASK mutations in cases with syndromic microcephaly. 24
29691940 2018
4
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. 24
29426960 2018
5
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
6
Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability. 24
28481730 2017
7
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 24
28139025 2017
8
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 24
28783747 2017
9
Phenotypic and molecular insights into CASK-related disorders in males. 24
25886057 2015
10
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. 24
23623288 2014
11
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 24
23165780 2012
12
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 24
22709267 2012
13
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. 24
22452838 2012
14
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 24
21735175 2012
15
Phenotypic spectrum associated with CASK loss-of-function mutations. 24
21954287 2011
16
Neuroradiologic features of CASK mutations. 24
20595373 2010
17
Calcium/calmodulin-dependent serine protein kinase and mental retardation. 24
19847910 2009
18
A missense mutation in CASK causes FG syndrome in an Italian family. 24
19200522 2009
19
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 24
19165920 2008
20
The role of the MAGUK protein CASK in neural development and synaptic function. 24
16842202 2006
21
CASK Disorders 61
24278995 2013

Variations for Cask Disorders

Expression for Cask Disorders

Search GEO for disease gene expression data for Cask Disorders.

Pathways for Cask Disorders

GO Terms for Cask Disorders

Sources for Cask Disorders

3 CDC
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9 Cosmic
10 dbSNP
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17 EFO
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19 FMA
28 GO
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32 ICD10
33 ICD10 via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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