MCID: XLN162
MIFTS: 21

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 52
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 52
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 52
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 52
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 71
Microcephaly with Pontine and Cerebellar Hypoplasia 52
Micpch Syndrome 52
Micpch 52

Classifications:



Summaries for X-Linked Intellectual Disability, Najm Type

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : X-Linked Intellectual Disability, Najm Type, also known as x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, 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. Affiliated tissues include testes, and related phenotypes are intellectual disability, moderate and severe global developmental delay

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 11.9
2 cask-related intellectual disability 11.6
3 cask-related disorders 11.6
4 fg syndrome 4 11.2
5 cerebellar hypoplasia 10.3
6 microcephaly 10.3
7 alacrima, achalasia, and mental retardation syndrome 10.2

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 hypertelorism 31 frequent (33%) HP:0000316
5 nystagmus 31 frequent (33%) HP:0000639
6 seizures 31 frequent (33%) HP:0001250
7 gait disturbance 31 frequent (33%) HP:0001288
8 macrotia 31 frequent (33%) HP:0000400
9 cataract 31 frequent (33%) HP:0000518
10 wide nasal bridge 31 frequent (33%) HP:0000431
11 micrognathia 31 frequent (33%) HP:0000347
12 cerebral cortical atrophy 31 frequent (33%) HP:0002120
13 microcephaly 31 frequent (33%) HP:0000252
14 sensorineural hearing impairment 31 frequent (33%) HP:0000407
15 visual impairment 31 frequent (33%) HP:0000505
16 long philtrum 31 frequent (33%) HP:0000343
17 strabismus 31 frequent (33%) HP:0000486
18 myopia 31 frequent (33%) HP:0000545
19 broad forehead 31 frequent (33%) HP:0000337
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 optic nerve hypoplasia 31 occasional (7.5%) HP:0000609
27 rigidity 31 occasional (7.5%) HP:0002063

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
Testes

Publications for X-Linked Intellectual Disability, Najm Type

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

(show all 11)
# Title Authors PMID Year
1
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. 61
30549415 2019
2
A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation. 61
29258560 2017
3
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. 61
28944139 2017
4
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61
28139025 2017
5
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
6
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016
7
Late-onset epileptic spasms in a female patient with a CASK mutation. 61
25765806 2015
8
Phenotypic and molecular insights into CASK-related disorders in males. 61
25886057 2015
9
CASK-Related Disorders 61
24278995 2013
10
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 61
23165780 2012
11
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 61
21735175 2012

Variations for X-Linked Intellectual Disability, Najm Type

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
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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