MCID: CSK002
MIFTS: 12

Cask-Related Intellectual Disability

Categories: Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases

Aliases & Classifications for Cask-Related Intellectual Disability

MalaCards integrated aliases for Cask-Related Intellectual Disability:

Name: Cask-Related Intellectual Disability 25
X-Linked Intellectual Deficit, Najm Type 25
Cask Related Intellectual Disability 73
Cask-Related Disorders 25

Classifications:



External Ids:

UMLS 73 C3839432

Summaries for Cask-Related Intellectual Disability

Genetics Home Reference : 25 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. Affiliated tissues include brain.

Related Diseases for Cask-Related Intellectual Disability

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:

41
Brain

Publications for Cask-Related Intellectual Disability

Articles related to Cask-Related Intellectual Disability:

# Title Authors Year
1
Phenotypic and molecular insights into CASK-related disorders in males. ( 25886057 )
2015
2
CASK-Related Disorders ( 24278995 )
1993

Variations for Cask-Related Intellectual Disability

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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