MCID: CSK001
MIFTS: 10

Cask-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Cask-Related Disorders

MalaCards integrated aliases for Cask-Related Disorders:

Name: Cask-Related Disorders 52
Cask-Related Disorder 6

Classifications:



Summaries for Cask-Related Disorders

NIH Rare Diseases : 52 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 mental retardation and microcephaly with pontine and cerebellar hypoplasia. An important gene associated with Cask-Related Disorders is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain.

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 11.9
2 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 early infantile epileptic encephalopathy 10.1
5 cerebellar hypoplasia 10.1
6 microcephaly 10.1
7 pathologic nystagmus 10.1
8 cask disorders 10.1
9 x-linked intellectual disability, najm type 10.1
10 ohtahara syndrome 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:

40
Brain

Publications for Cask-Related Disorders

Articles related to Cask-Related Disorders:

# Title Authors PMID Year
1
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 61
30289607 2018
2
Phenotypic and molecular insights into CASK-related disorders in males. 61
25886057 2015

Variations for Cask-Related Disorders

ClinVar genetic disease variations for Cask-Related Disorders:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASK NM_003688.3(CASK):c.1480C>T (p.Gln494Ter)SNV Pathogenic 424249 rs1064796879 X:41437616-41437616 X:41578363-41578363
2 CASK NM_003688.3(CASK):c.2040-1G>ASNV Pathogenic 559631 rs1555977269 X:41402060-41402060 X:41542807-41542807
3 CASK NM_003688.3(CASK):c.1465C>T (p.Arg489Trp)SNV Pathogenic/Likely pathogenic 254208 rs1114167352 X:41437631-41437631 X:41578378-41578378

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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