MCID: XLN162
MIFTS: 17

X-Linked Intellectual Disability, Najm Type malady

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

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

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Sources:
22GeneTests, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

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

Name: X-Linked Intellectual Disability, Najm Type 45 51
Micpch 45 22 51
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 45 51
Intellectual Disability and Microcephaly with Pontine and Cerebellar Hypoplasia 45 22
 
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 22 65
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 45
Microcephaly with Pontine and Cerebellar Hypoplasia 45
Micpch Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
micpch:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 163937
ICD10 via Orphanet28 Q04.3
UMLS65 C2677903

Summaries for X-Linked Intellectual Disability, Najm Type

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MalaCards based summary: X-Linked Intellectual Disability, Najm Type, also known as micpch, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia, and has symptoms including cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia, intellectual deficit/mental/psychomotor retardation/learning disability and x-linked dominant inheritance. An important gene associated with X-Linked Intellectual Disability, Najm Type is CASK (Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family)). Affiliated tissues include brain and cerebellum.

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 hypoplasia13.1

Symptoms for X-Linked Intellectual Disability, Najm Type

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Symptoms:

 51 (show all 25)
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • x-linked dominant inheritance
  • microcephaly
  • broad forehead
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cataract/lens opacification
  • mild visual loss/impaired visual acuity
  • myopia
  • strabismus/squint
  • nystagmus
  • broad nose/nasal bridge
  • long philtrum
  • long/large ear
  • sensorineural deafness/hearing loss
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • abnormal gait
  • seizures/epilepsy/absences/spasms/status epilepticus
  • retinoschisis/retinal/chorioretinal coloboma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • scoliosis
  • hypertonia/spasticity/rigidity/stiffness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • failure to thrive/difficulties for feeding in infancy/growth delay

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 Hypoplasia22 CASK

Anatomical Context for X-Linked Intellectual Disability, Najm Type

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

33
Brain, Cerebellum

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet