MCID: XLN162

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 48
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 48 24
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 24 68
Micpch 48 24
 
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 48
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 48
Microcephaly with Pontine and Cerebellar Hypoplasia 48
Micpch Syndrome 48

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 & Phenotypes 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 Hypoplasia24 CASK

Anatomical Context for X-Linked Intellectual Disability, Najm Type

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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 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1CASKNM_003688.3(CASK): c.1915C> T (p.Arg639Ter)SNVPathogenicrs137852815GRCh37Chr X, 41413096: 41413096
2CASKNM_003688.3(CASK): c.915G> A (p.Lys305=)SNVPathogenicrs387906499GRCh37Chr X, 41495831: 41495831
3CASKNM_003688.3(CASK): c.1644_1645delAG (p.Val549Glyfs)deletionPathogenicrs587783357GRCh37Chr X, 41420835: 41420836
4CASKNM_003688.3(CASK): c.2041C> T (p.Arg681Ter)SNVPathogenicrs587783360GRCh37Chr X, 41402058: 41402058
5CASKNM_003688.3(CASK): c.2074C> T (p.Gln692Ter)SNVPathogenicrs587783361GRCh37Chr X, 41402025: 41402025
6CASKNM_003688.3(CASK): c.20_27delTGTTCGAG (p.Leu7Argfs)deletionPathogenicrs587783362GRCh37Chr X, 41782215: 41782222
7CASKNM_003688.3(CASK): c.2470C> T (p.Gln824Ter)SNVPathogenicrs587783364GRCh37Chr X, 41390295: 41390295
8CASKNM_003688.3(CASK): c.430-2A> TSNVPathogenicrs587783366GRCh37Chr X, 41530785: 41530785
9CASKNM_003688.3(CASK): c.708+1G> ASNVPathogenicrs587783368GRCh37Chr X, 41524529: 41524529
10CASKNM_003688.3(CASK): c.880C> T (p.Gln294Ter)SNVPathogenicrs587783371GRCh37Chr X, 41495866: 41495866
11CASKNM_003688.3(CASK): c.1976G> A (p.Gly659Asp)SNVPathogenicrs727505397GRCh37Chr X, 41413035: 41413035
12CASKNM_003688.3(CASK): c.79C> T (p.Arg27Ter)SNVPathogenicrs794727270GRCh37Chr X, 41712461: 41712461
13CASKNM_003688.3(CASK): c.1981delC (p.Leu661Trpfs)deletionPathogenicrs797045431GRCh38Chr X, 41553777: 41553777
14CASKNM_003688.3(CASK): c.2377C> T (p.Gln793Ter)SNVPathogenicrs749742837GRCh37Chr X, 41390388: 41390388
15CASKNM_003688.3(CASK): c.2531_2532delAG (p.Glu844Valfs)deletionPathogenicrs797045433GRCh38Chr X, 41524008: 41524009
16CASKNM_003688.3(CASK): c.2303-2A> GSNVPathogenicrs863224854GRCh37Chr X, 41390464: 41390464
17CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)SNVLikely pathogenic, Pathogenicrs398122844GRCh37Chr X, 41394199: 41394199
18CASKNM_003688.3(CASK): c.316C> T (p.Arg106Ter)SNVPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
19CASKNG_016754.1: g.5000-?_5105+?deldeletionPathogenicChr na, -1: -1
20CASKNM_003688.3(CASK): c.1639C> T (p.Gln547Ter)SNVPathogenicrs387906705GRCh37Chr X, 41420841: 41420841

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet