MCID: CSK001
MIFTS: 15

Cask-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Cask-Related Disorders

MalaCards integrated aliases for Cask-Related Disorders:

Name: Cask-Related Disorders 24 53
Cask-Related Disorder 6

Characteristics:

GeneReviews:

24
Penetrance Penetrance for micpch seems to be complete in the 53 females and in the seven surviving males reported to date. the few reported males have a particularly severe phenotype (see clinical description), except for those with somatic mosaicism of the cask pathogenic variant....

Classifications:



Summaries for Cask-Related Disorders

NIH Rare Diseases : 53 CASK-related disorders are a group of genetic disorders that affect brain development. The two main related disorders include microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability (XL-ID) with or without nystagmus. Males with these disorders usually have more severe symptoms than females. The signs and symptoms may include: autism spectrum disorders, intellectual disability, epilepsy disorders, seizures, a small head size (microcephaly) with specific brain findings (pontine and cerebellar hypoplasia), delayed growth, vision and hearing issues, and low muscle tone (hypotonia). CASK-related disorders are caused by mutations in the CASK gene and are inherited in an X-linked manner. Some researchers have suggested that a condition called FG syndrome 4 may also be caused by mutations in the CASK gene, but it seems that the only family described with this syndrome may have actually had XL-ID, with or without nystagmus. Treatment is focused on alleviating symptoms and may include medication to control seizures, nutritional support, hearing and vision aids, and physical therapy. The best management usually requires a team of specialists.

MalaCards based summary : Cask-Related Disorders, also known as cask-related disorder, is related to cask-related intellectual disability and cerebellar hypoplasia. An important gene associated with Cask-Related Disorders is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain and cerebellum.

GeneReviews: NBK169825

Related Diseases for Cask-Related Disorders

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 cask-related intellectual disability 11.9
2 cerebellar hypoplasia 10.2
3 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.2
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 early infantile epileptic encephalopathy 10.2
6 pathologic nystagmus 10.2
7 microcephaly 10.2
8 x-linked intellectual disability, najm type 10.2
9 ohtahara syndrome 10.2
10 fg syndrome 4 10.1
11 west syndrome 10.1
12 sensorineural hearing loss 10.1
13 early myoclonic encephalopathy 10.1
14 movement disease 10.1
15 dystonia 10.1
16 hypertonia 10.1
17 hypotonia 10.1
18 spasticity 10.1

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



Diseases related to Cask-Related Disorders

Symptoms & Phenotypes for Cask-Related Disorders

Drugs & Therapeutics for Cask-Related Disorders

Search Clinical Trials , NIH Clinical Center for Cask-Related Disorders

Genetic Tests for Cask-Related Disorders

Anatomical Context for Cask-Related Disorders

MalaCards organs/tissues related to Cask-Related Disorders:

41
Brain, Cerebellum

Publications for Cask-Related Disorders

Articles related to Cask-Related Disorders:

(show all 32)
# Title Authors PMID Year
1
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. 4
23623288 2014
2
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. 4
23406872 2013
3
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. 4
23901204 2013
4
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 4
23165780 2012
5
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 4
22709267 2012
6
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. 4
21880448 2012
7
Fragile X and X-linked intellectual disability: four decades of discovery. 4
22482801 2012
8
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. 4
22452838 2012
9
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 4
21735175 2012
10
Phenotypic spectrum associated with CASK loss-of-function mutations. 4
21954287 2011
11
MAGUKs, synaptic development, and synaptic plasticity. 4
21498811 2011
12
Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures. 4
21855798 2011
13
Neuroradiologic features of CASK mutations. 4
20595373 2010
14
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 4
20029458 2010
15
Calcium/calmodulin-dependent serine protein kinase and mental retardation. 4
19847910 2009
16
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 4
19377476 2009
17
A missense mutation in CASK causes FG syndrome in an Italian family. 4
19200522 2009
18
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 4
19165920 2008
19
The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. 4
18629876 2008
20
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 4
18469812 2008
21
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. 4
17546640 2007
22
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 4
17668384 2007
23
Deletion of CASK in mice is lethal and impairs synaptic function. 4
17287346 2007
24
The role of the MAGUK protein CASK in neural development and synaptic function. 4
16842202 2006
25
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family. 4
12522552 2003
26
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 4
10973257 2000
27
Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2. 4
10749215 2000
28
An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons. 4
9883721 1998
29
Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. 4
4365204 1974
30
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 38
30289607 2018
31
Phenotypic and molecular insights into CASK-related disorders in males. 38
25886057 2015
32
CASK-Related Disorders 38
24278995 2013

Variations for Cask-Related Disorders

ClinVar genetic disease variations for Cask-Related Disorders:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CASK NM_003688.3(CASK): c.1480C> T (p.Gln494Ter) single nucleotide variant Pathogenic rs1064796879 X:41437616-41437616 X:41578363-41578363
2 CASK NM_003688.3(CASK): c.2040-1G> A single nucleotide variant Pathogenic rs1555977269 X:41402060-41402060 X:41542807-41542807

Expression for Cask-Related Disorders

Search GEO for disease gene expression data for Cask-Related Disorders.

Pathways for Cask-Related Disorders

GO Terms for Cask-Related Disorders

Sources for Cask-Related Disorders

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
Content
Loading form....