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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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).

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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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