MCID: XLN162
MIFTS: 10

X-Linked Intellectual Disability, Najm Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for X-Linked Intellectual Disability, Najm Type

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Aliases & Descriptions for X-Linked Intellectual Disability, Najm Type:

Name: X-Linked Intellectual Disability, Najm Type 46
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 46 23
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 23 66
Micpch 46 23
 
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 46
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 46
Microcephaly with Pontine and Cerebellar Hypoplasia 46
Micpch Syndrome 46

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

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MalaCards based summary: X-Linked Intellectual Disability, Najm Type, also known as intellectual disability and microcephaly with pontine and cerebellar hypoplasia, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia, and has symptoms including muscle spasticity An important gene associated with X-Linked Intellectual Disability, Najm Type is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase).

Related Diseases for X-Linked Intellectual Disability, Najm Type

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Diseases related to X-Linked Intellectual Disability, Najm Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation and microcephaly with pontine and cerebellar hypoplasia11.4

Symptoms for X-Linked Intellectual Disability, Najm Type

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UMLS symptoms related to X-Linked Intellectual Disability, Najm Type:


muscle spasticity

Drugs & Therapeutics for X-Linked Intellectual Disability, Najm Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for X-Linked Intellectual Disability, Najm Type

Genetic Tests for X-Linked Intellectual Disability, Najm Type

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Genetic tests related to X-Linked Intellectual Disability, Najm Type:

id Genetic test Affiliating Genes
1 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia23 CASK

Anatomical Context for X-Linked Intellectual Disability, Najm Type

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Animal Models for X-Linked Intellectual Disability, Najm Type or affiliated genes

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Publications for X-Linked Intellectual Disability, Najm Type

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Variations for X-Linked Intellectual Disability, Najm Type

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Clinvar genetic disease variations for X-Linked Intellectual Disability, Najm Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CASKNM_003688.3(CASK): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs794727270GRCh37Chr X, 41712461: 41712461
2CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)single nucleotide variantLikely pathogenic, Pathogenicrs398122844GRCh37Chr X, 41394199: 41394199

Expression for genes affiliated with X-Linked Intellectual Disability, Najm Type

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Search GEO for disease gene expression data for X-Linked Intellectual Disability, Najm Type.

Pathways for genes affiliated with X-Linked Intellectual Disability, Najm Type

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GO Terms for genes affiliated with X-Linked Intellectual Disability, Najm Type

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Sources for X-Linked Intellectual Disability, Najm Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet