MCID: XLN162
MIFTS: 27

X-Linked Intellectual Disability, Najm Type

Categories: Mental diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for X-Linked Intellectual Disability, Najm Type:

Name: X-Linked Intellectual Disability, Najm Type 20
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 20 6
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 20
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 20
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 70
Microcephaly with Pontine and Cerebellar Hypoplasia 20
Micpch Syndrome 20
Micpch 20

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163937 Definition Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. Epidemiology Prevalence of this rare neurological syndrome is unknown. Up to 35 families have been reported to date. Clinical description Patients (mostly females) have been reported to have variable clinical manifestations including intellectual deficit, severe developmental delay, seizures, unsteady gait, sensorineural hearing loss and postnatal microcephaly (in most cases). Minor facial anomalies include: low or broad forehead, hypertelorism, long philtrum and micrognathia. Ocular findings are also variable and include congenital nystagmus, strabismus, cataracts, myopia or reduced visual acuity. Males appear to be more severely affected. Etiology Point mutations and deletions in the CASK gene (Xp11.4) have been found in patients with this syndrome. Diagnostic methods Magnetic resonance imaging (MRI) generally shows pontocerebellar hypoplasia/atrophy and simplified cortical gyri. Molecular genetic testing is needed to confirm diagnosis. Genetic counseling Transmission follows an X-linked dominant pattern.

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 cask-related intellectual disability, and has symptoms including muscle weakness and muscle spasticity. An important gene associated with X-Linked Intellectual Disability, Najm Type is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include cerebellum, and related phenotypes are intellectual disability, moderate and severe global developmental delay

Wikipedia : 73 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

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:

# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.7
2 cask-related intellectual disability 11.3
3 fg syndrome 4 10.9
4 cask-related disorders 10.9
5 cerebellar hypoplasia 10.1
6 microcephaly 10.1
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 cask disorders 10.1
9 rett syndrome 9.9
10 pontocerebellar hypoplasia 9.9

Graphical network of the top 20 diseases related to X-Linked Intellectual Disability, Najm Type:



Diseases related to X-Linked Intellectual Disability, Najm Type

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

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, moderate 31 hallmark (90%) HP:0002342
2 severe global developmental delay 31 hallmark (90%) HP:0011344
3 cerebellar hypoplasia 31 hallmark (90%) HP:0001321
4 nystagmus 31 frequent (33%) HP:0000639
5 gait disturbance 31 frequent (33%) HP:0001288
6 cataract 31 frequent (33%) HP:0000518
7 hypertelorism 31 frequent (33%) HP:0000316
8 macrotia 31 frequent (33%) HP:0000400
9 wide nasal bridge 31 frequent (33%) HP:0000431
10 microcephaly 31 frequent (33%) HP:0000252
11 sensorineural hearing impairment 31 frequent (33%) HP:0000407
12 visual impairment 31 frequent (33%) HP:0000505
13 strabismus 31 frequent (33%) HP:0000486
14 micrognathia 31 frequent (33%) HP:0000347
15 myopia 31 frequent (33%) HP:0000545
16 cerebral cortical atrophy 31 frequent (33%) HP:0002120
17 long philtrum 31 frequent (33%) HP:0000343
18 broad forehead 31 frequent (33%) HP:0000337
19 seizure 31 frequent (33%) HP:0001250
20 spasticity 31 occasional (7.5%) HP:0001257
21 failure to thrive 31 occasional (7.5%) HP:0001508
22 scoliosis 31 occasional (7.5%) HP:0002650
23 optic atrophy 31 occasional (7.5%) HP:0000648
24 absent speech 31 occasional (7.5%) HP:0001344
25 chorioretinal coloboma 31 occasional (7.5%) HP:0000567
26 rigidity 31 occasional (7.5%) HP:0002063
27 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609

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


muscle weakness; muscle spasticity

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

Anatomical Context for X-Linked Intellectual Disability, Najm Type

MalaCards organs/tissues related to X-Linked Intellectual Disability, Najm Type:

40
Cerebellum

Publications for X-Linked Intellectual Disability, Najm Type

Articles related to X-Linked Intellectual Disability, Najm Type:

# Title Authors PMID Year
1
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 6
23165780 2012
2
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 6
21735175 2012
3
Phenotypic spectrum associated with CASK loss-of-function mutations. 6
21954287 2011
4
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 6
19165920 2008
5
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. 61
33272775 2021
6
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 61
28783747 2017

Variations for X-Linked Intellectual Disability, Najm Type

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

6 (show top 50) (show all 64)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASK NM_003688.3(CASK):c.915G>A (p.Lys305=) SNV Pathogenic 11531 rs387906499 GRCh37: X:41495831-41495831
GRCh38: X:41636578-41636578
2 CASK NG_016754.1:g.5000-?_5105+?del Deletion Pathogenic 29940 GRCh37:
GRCh38:
3 CASK NM_003688.3(CASK):c.1976G>A (p.Gly659Asp) SNV Pathogenic 180215 rs727505397 GRCh37: X:41413035-41413035
GRCh38: X:41553782-41553782
4 CASK NM_003688.3(CASK):c.68del (p.Phe23fs) Deletion Pathogenic 431176 rs1135401762 GRCh37: X:41712472-41712472
GRCh38: X:41853219-41853219
5 CASK NM_003688.3(CASK):c.2589+1G>T SNV Pathogenic 433537 rs1555972599 GRCh37: X:41383203-41383203
GRCh38: X:41523950-41523950
6 CASK NM_003688.3(CASK):c.1315-7A>G SNV Pathogenic 446287 rs1555986221 GRCh37: X:41437788-41437788
GRCh38: X:41578535-41578535
7 CASK NM_003688.3(CASK):c.109C>T (p.Gln37Ter) SNV Pathogenic 446288 rs1556254569 GRCh37: X:41712431-41712431
GRCh38: X:41853178-41853178
8 CASK NM_003688.3(CASK):c.2302+1G>A SNV Pathogenic 446289 rs1555975458 GRCh37: X:41393958-41393958
GRCh38: X:41534705-41534705
9 CASK NM_003688.3(CASK):c.2303-2A>G SNV Pathogenic 216899 rs863224854 GRCh37: X:41390464-41390464
GRCh38: X:41531211-41531211
10 CASK NM_003688.3(CASK):c.1997dup (p.Asn666fs) Duplication Pathogenic 828187 rs1602253464 GRCh37: X:41413013-41413014
GRCh38: X:41553760-41553761
11 CASK NM_003688.3(CASK):c.824G>A (p.Trp275Ter) SNV Pathogenic 638400 rs1602424764 GRCh37: X:41519699-41519699
GRCh38: X:41660446-41660446
12 CASK NM_003688.3(CASK):c.1385_1394del (p.Pro462fs) Deletion Pathogenic 803984 rs1602292205 GRCh37: X:41437702-41437711
GRCh38: X:41578449-41578458
13 CASK NM_003688.3(CASK):c.774_780del (p.Met258fs) Deletion Pathogenic 803986 rs1602424869 GRCh37: X:41519743-41519749
GRCh38: X:41660490-41660496
14 CASK NM_003688.3:c.116_117delCA Deletion Pathogenic 374802 GRCh37:
GRCh38:
15 CASK NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) SNV Pathogenic 29941 rs387906705 GRCh37: X:41420841-41420841
GRCh38: X:41561588-41561588
16 CASK NM_001367721.1(CASK):c.20_27del (p.Leu7fs) Deletion Pathogenic 158071 rs587783362 GRCh37: X:41782215-41782222
GRCh38: X:41922962-41922969
17 CASK NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) SNV Pathogenic 158074 rs587783364 GRCh37: X:41390295-41390295
GRCh38: X:41531042-41531042
18 CASK NM_001367721.1(CASK):c.430-2A>T SNV Pathogenic 158077 rs587783366 GRCh37: X:41530785-41530785
GRCh38: X:41671532-41671532
19 CASK NM_001367721.1(CASK):c.708+1G>A SNV Pathogenic 158082 rs587783368 GRCh37: X:41524529-41524529
GRCh38: X:41665276-41665276
20 CASK NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) SNV Pathogenic 158087 rs587783371 GRCh37: X:41495866-41495866
GRCh38: X:41636613-41636613
21 CASK NM_001367721.1(CASK):c.1981del (p.Leu661fs) Deletion Pathogenic 210581 rs797045431 GRCh37: X:41413030-41413030
GRCh38: X:41553777-41553777
22 CASK NM_001367721.1(CASK):c.2544_2545AG[1] (p.Glu849fs) Microsatellite Pathogenic 210586 rs797045433 GRCh37: X:41383261-41383262
GRCh38: X:41524008-41524009
23 CASK NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) SNV Pathogenic 434587 rs1555980033 GRCh37: X:41413147-41413147
GRCh38: X:41553894-41553894
24 CASK NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) Deletion Pathogenic 434586 rs1555972628 GRCh37: X:41383258-41383259
GRCh38: X:41524005-41524006
25 CASK NM_001367721.1(CASK):c.533-2A>G SNV Pathogenic 632601 rs1569380062 GRCh37: X:41524707-41524707
GRCh38: X:41665454-41665454
26 CASK NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) Duplication Pathogenic 632602 rs1569295677 GRCh37: X:41401978-41401979
GRCh38: X:41542725-41542726
27 CASK NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) SNV Pathogenic 210585 rs749742837 GRCh37: X:41390388-41390388
GRCh38: X:41531135-41531135
28 CASK NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) Deletion Pathogenic 158066 rs587783357 GRCh37: X:41420835-41420836
GRCh38: X:41561582-41561583
29 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
30 CASK NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) SNV Pathogenic 11530 rs137852815 GRCh37: X:41413096-41413096
GRCh38: X:41553843-41553843
31 CASK NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) SNV Pathogenic 29939 rs387906704 GRCh37: X:41604817-41604817
GRCh38: X:41745564-41745564
32 CASK NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) SNV Pathogenic 158069 rs587783360 GRCh37: X:41402058-41402058
GRCh38: X:41542805-41542805
33 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
34 CASK NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) Duplication Pathogenic 689749 rs1602386709 GRCh37: X:41495831-41495832
GRCh38: X:41636578-41636579
35 CASK NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) SNV Pathogenic 418109 rs779508996 GRCh37: X:41414858-41414858
GRCh38: X:41555605-41555605
36 CASK NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) SNV Pathogenic 432816 rs1556014749 GRCh37: X:41524612-41524612
GRCh38: X:41665359-41665359
37 CASK NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) SNV Pathogenic 195200 rs794727270 GRCh37: X:41712461-41712461
GRCh38: X:41853208-41853208
38 CASK NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) SNV Pathogenic 813943 rs1602253509 GRCh37: X:41413041-41413041
GRCh38: X:41553788-41553788
39 CASK NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) SNV Pathogenic/Likely pathogenic 158070 rs587783361 GRCh37: X:41402025-41402025
GRCh38: X:41542772-41542772
40 CASK NM_001367721.1(CASK):c.764G>A (p.Arg255His) SNV Likely pathogenic 158084 rs587783369 GRCh37: X:41519759-41519759
GRCh38: X:41660506-41660506
41 CASK NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) SNV Likely pathogenic 580053 rs1569302194 GRCh37: X:41413101-41413101
GRCh38: X:41553848-41553848
42 CASK NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) SNV Likely pathogenic 503609 rs1555981717 GRCh37: X:41420871-41420871
GRCh38: X:41561618-41561618
43 CASK NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) SNV Likely pathogenic 619127 rs1569283243 GRCh37: X:41383247-41383247
GRCh38: X:41523994-41523994
44 CASK NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) SNV Likely pathogenic 11534 rs137852818 GRCh37: X:41401970-41401970
GRCh38: X:41542717-41542717
45 CASK NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) SNV Likely pathogenic 29937 rs398122844 GRCh37: X:41394199-41394199
GRCh38: X:41534946-41534946
46 CASK NM_001367721.1(CASK):c.2156-1G>A SNV Likely pathogenic 632600 rs1569291261 GRCh37: X:41394227-41394227
GRCh38: X:41534974-41534974
47 CASK NM_003688.3(CASK):c.359A>G (p.His120Arg) SNV Likely pathogenic 813732 rs1602550687 GRCh37: X:41598707-41598707
GRCh38: X:41739454-41739454
48 CASK NM_003688.3(CASK):c.787G>A (p.Glu263Lys) SNV Likely pathogenic 803985 rs1602424843 GRCh37: X:41519736-41519736
GRCh38: X:41660483-41660483
49 CASK NM_003688.3(CASK):c.725G>A (p.Trp242Ter) SNV Likely pathogenic 976007 GRCh37: X:41519798-41519798
GRCh38: X:41660545-41660545
50 CASK NM_003688.3(CASK):c.2039+1del Deletion Likely pathogenic 977820 GRCh37: X:41412971-41412971
GRCh38: X:41553718-41553718

Expression for X-Linked Intellectual Disability, Najm Type

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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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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