MCID: CSK002
MIFTS: 9

Cask-Related Intellectual Disability

Aliases & Classifications for Cask-Related Intellectual Disability

MalaCards integrated aliases for Cask-Related Intellectual Disability:

Name: Cask-Related Intellectual Disability 24
X-Linked Intellectual Deficit, Najm Type 24
Cask Related Intellectual Disability 69
Cask-Related Disorders 24

External Ids:

UMLS 69 C3839432

Summaries for Cask-Related Intellectual Disability

Genetics Home Reference : 24 CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.

MalaCards based summary : Cask-Related Intellectual Disability, also known as x-linked intellectual deficit, najm type, is related to cask-related disorders and x-linked intellectual disability with or without nystagmus. An important gene associated with Cask-Related Intellectual Disability is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain.

Related Diseases for Cask-Related Intellectual Disability

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

# Related Disease Score Top Affiliating Genes
1 cask-related disorders 12.6
2 x-linked intellectual disability with or without nystagmus 11.1
3 x-linked intellectual disability, najm type 11.1

Symptoms & Phenotypes for Cask-Related Intellectual Disability

Drugs & Therapeutics for Cask-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Cask-Related Intellectual Disability

Genetic Tests for Cask-Related Intellectual Disability

Anatomical Context for Cask-Related Intellectual Disability

MalaCards organs/tissues related to Cask-Related Intellectual Disability:

38
Brain

Publications for Cask-Related Intellectual Disability

Articles related to Cask-Related Intellectual Disability:

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

Variations for Cask-Related Intellectual Disability

ClinVar genetic disease variations for Cask-Related Intellectual Disability:

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 GRCh37 Chromosome X, 41437616: 41437616

Expression for Cask-Related Intellectual Disability

Search GEO for disease gene expression data for Cask-Related Intellectual Disability.

Pathways for Cask-Related Intellectual Disability

GO Terms for Cask-Related Intellectual Disability

Sources for Cask-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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