MCID: CSK001
MIFTS: 7

Cask-Related Disorders malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Cask-Related Disorders

Aliases & Descriptions for Cask-Related Disorders:

Name: Cask-Related Disorders 23 50 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

NIH Rare Diseases : 50 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: NBK169825

Related Diseases for Cask-Related Disorders

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

id Related Disease Score Top Affiliating Genes
1 cask-related intellectual disability 11.1

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

Genetic tests related to Cask-Related Disorders:

id Genetic test Affiliating Genes
1 Cask-Related Disorders 24 CASK

Anatomical Context for Cask-Related Disorders

MalaCards organs/tissues related to Cask-Related Disorders:

39
Brain

Publications for Cask-Related Disorders

Articles related to Cask-Related Disorders:

id Title Authors Year
1
CASK-Related Disorders ( 24278995 )
1993

Variations for Cask-Related Disorders

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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