MCID: XLN162
MIFTS: 13

X-Linked Intellectual Disability, Najm Type malady

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

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

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

Name: X-Linked Intellectual Disability, Najm Type 50
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 50 24
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 24 69
Micpch 50 24
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 50
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 50
Microcephaly with Pontine and Cerebellar Hypoplasia 50
Micpch Syndrome 50

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

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 microcephaly, hypertelorism and broad forehead. 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

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

id Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.5

Symptoms & Phenotypes for X-Linked Intellectual Disability, Najm Type

Human phenotypes related to X-Linked Intellectual Disability, Najm Type:

32 (show all 27)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 hypertelorism 32 HP:0000316
3 broad forehead 32 HP:0000337
4 long philtrum 32 HP:0000343
5 micrognathia 32 HP:0000347
6 macrotia 32 HP:0000400
7 sensorineural hearing impairment 32 HP:0000407
8 wide nasal bridge 32 HP:0000431
9 strabismus 32 HP:0000486
10 visual impairment 32 HP:0000505
11 cataract 32 HP:0000518
12 myopia 32 HP:0000545
13 chorioretinal coloboma 32 HP:0000567
14 optic nerve hypoplasia 32 HP:0000609
15 nystagmus 32 HP:0000639
16 optic atrophy 32 HP:0000648
17 seizures 32 HP:0001250
18 spasticity 32 HP:0001257
19 gait disturbance 32 HP:0001288
20 cerebellar hypoplasia 32 HP:0001321
21 absent speech 32 HP:0001344
22 failure to thrive 32 HP:0001508
23 rigidity 32 HP:0002063
24 cerebral cortical atrophy 32 HP:0002120
25 intellectual disability, moderate 32 HP:0002342
26 scoliosis 32 HP:0002650
27 severe global developmental delay 32 HP:0011344

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


muscle spasticity, muscle weakness

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

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

Genetic Tests for X-Linked Intellectual Disability, Najm Type

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

id Genetic test Affiliating Genes
1 Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 24 CASK

Anatomical Context for X-Linked Intellectual Disability, Najm Type

Publications for X-Linked Intellectual Disability, Najm Type

Variations for X-Linked Intellectual Disability, Najm Type

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

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASK NM_003688.3(CASK): c.1915C> T (p.Arg639Ter) single nucleotide variant Pathogenic rs137852815 GRCh37 Chromosome X, 41413096: 41413096
2 CASK NM_003688.3(CASK): c.915G> A (p.Lys305=) single nucleotide variant Pathogenic rs387906499 GRCh37 Chromosome X, 41495831: 41495831
3 CASK NM_003688.3(CASK): c.2168A> G (p.Tyr723Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122844 GRCh37 Chromosome X, 41394199: 41394199
4 CASK NM_003688.3(CASK): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs387906704 GRCh37 Chromosome X, 41604817: 41604817
5 CASK NG_016754.1: g.5000-?_5105+?del deletion Pathogenic
6 CASK NM_003688.3(CASK): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic rs387906705 GRCh37 Chromosome X, 41420841: 41420841
7 CASK NM_003688.3(CASK): c.1644_1645delAG (p.Val549Glyfs) deletion Pathogenic rs587783357 GRCh37 Chromosome X, 41420835: 41420836
8 CASK NM_003688.3(CASK): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs587783360 GRCh37 Chromosome X, 41402058: 41402058
9 CASK NM_003688.3(CASK): c.2074C> T (p.Gln692Ter) single nucleotide variant Pathogenic rs587783361 GRCh37 Chromosome X, 41402025: 41402025
10 CASK NM_003688.3(CASK): c.20_27delTGTTCGAG (p.Leu7Argfs) deletion Pathogenic rs587783362 GRCh38 Chromosome X, 41922962: 41922969
11 CASK NM_003688.3(CASK): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs587783364 GRCh38 Chromosome X, 41531042: 41531042
12 CASK NM_003688.3(CASK): c.430-2A> T single nucleotide variant Pathogenic rs587783366 GRCh37 Chromosome X, 41530785: 41530785
13 CASK NM_003688.3(CASK): c.708+1G> A single nucleotide variant Pathogenic rs587783368 GRCh38 Chromosome X, 41665276: 41665276
14 CASK NM_003688.3(CASK): c.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs587783370 GRCh38 Chromosome X, 41853205: 41853205
15 CASK NM_003688.3(CASK): c.880C> T (p.Gln294Ter) single nucleotide variant Pathogenic rs587783371 GRCh37 Chromosome X, 41495866: 41495866
16 CASK NM_003688.3(CASK): c.1976G> A (p.Gly659Asp) single nucleotide variant Pathogenic rs727505397 GRCh37 Chromosome X, 41413035: 41413035
17 CASK NM_003688.3(CASK): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727270 GRCh37 Chromosome X, 41712461: 41712461
18 CASK NM_003688.3(CASK): c.2531_2532delAG (p.Glu844Valfs) deletion Pathogenic rs797045433 GRCh38 Chromosome X, 41524008: 41524009
19 CASK NM_003688.3(CASK): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs749742837 GRCh37 Chromosome X, 41390388: 41390388
20 CASK NM_003688.3(CASK): c.1981delC (p.Leu661Trpfs) deletion Pathogenic rs797045431 GRCh38 Chromosome X, 41553777: 41553777
21 CASK NM_003688.3(CASK): c.2303-2A> G single nucleotide variant Pathogenic rs863224854 GRCh37 Chromosome X, 41390464: 41390464
22 CASK NM_003688.3: c.116_117delCA deletion Pathogenic

Expression for X-Linked Intellectual Disability, Najm Type

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

Pathways for X-Linked Intellectual Disability, Najm Type

GO Terms for X-Linked Intellectual Disability, Najm Type

Sources for X-Linked Intellectual Disability, Najm Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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42 MeSH
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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