MCID: CSK001
MIFTS: 8

Cask-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Cask-Related Disorders

MalaCards integrated aliases for Cask-Related Disorders:

Name: Cask-Related Disorders 25 54
Cask-Related Disorder 6

Characteristics:

GeneReviews:

25
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 : 54 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-linkedintellectual 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. An important gene associated with Cask-Related Disorders is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain.

GeneReviews: NBK169825

Related Diseases for Cask-Related Disorders

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

# Related Disease Score Top Affiliating Genes
1 cask-related intellectual disability 11.7

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:

42
Brain

Publications for Cask-Related Disorders

Articles related to Cask-Related Disorders:

# Title Authors Year
1
Phenotypic and molecular insights into CASK-related disorders in males. ( 25886057 )
2015
2
CASK-Related Disorders ( 24278995 )
1993

Variations for Cask-Related Disorders

ClinVar genetic disease variations for Cask-Related Disorders:

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

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
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
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50 NCI
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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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