MCID: CSK001

Cask-Related Disorders malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Cask-Related Disorders

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Aliases & Descriptions for Cask-Related Disorders:

Name: Cask-Related Disorders 23 48 24

Characteristics:

GeneReviews:

23
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

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NIH Rare Diseases:48 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. last updated: 3/17/2017

MalaCards based summary: Cask-Related Disorders 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 for NBK169825

Related Diseases for Cask-Related Disorders

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

idRelated DiseaseScoreTop Affiliating Genes
1cask-related intellectual disability11.1

Symptoms & Phenotypes for Cask-Related Disorders

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Drugs & Therapeutics for Cask-Related Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cask-Related Disorders

Genetic Tests for Cask-Related Disorders

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Genetic tests related to Cask-Related Disorders:

id Genetic test Affiliating Genes
1 Cask-Related Disorders24 CASK

Anatomical Context for Cask-Related Disorders

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MalaCards organs/tissues related to Cask-Related Disorders:

36
Brain

Publications for Cask-Related Disorders

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Articles related to Cask-Related Disorders:

idTitleAuthorsYear
1
CASK-Related Disorders (24278995)
1993

Variations for Cask-Related Disorders

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Expression for genes affiliated with Cask-Related Disorders

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

Pathways for genes affiliated with Cask-Related Disorders

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GO Terms for genes affiliated with Cask-Related Disorders

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Sources for Cask-Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet