MCID: MNT046
MIFTS: 26

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

Neuronal diseases, Fetal diseases categories

Summaries for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

MalaCards: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia, also known as x-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia, is related to cask-related intellectual disability and fg syndrome 4, and has symptoms including sensorineural deafness/hearing loss, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and abnormal gait. An important gene associated with Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia is CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family)). Affiliated tissues include eye, cerebellum and brain.

Description from OMIM:46 300749

Aliases & Classifications for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
x-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mental retardation and microcephaly with pontine and cerebellar hypoplasia 46 60
x-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia 48
x-linked intellectual deficit, najm type 48
micpch 48


External Ids:

OMIM46 300749
ICD10 via Orphanet26 Q04.3

Related Diseases for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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17GeneCards, 18GeneDecks
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Diseases related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cask-related intellectual disability10.4
2fg syndrome 410.0

Clinical Features for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300749

Clinical synopsis from OMIM:

300749

Symptoms:

48 (show all 25)
  • 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
  • long/large ear
  • long philtrum
  • 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
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia

Drugs & Therapeutics for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Search NIH Clinical Center for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

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Genetic Tests for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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Anatomical Context for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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32MalaCards
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MalaCards organs/tissues related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

32
Eye, Cerebellum, Brain

Animal Models for Mental Retardation and Microcephaly with Pontine and Cerebellar... or affiliated genes

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Publications for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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Genetic Variations for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

62
id Symbol AA change Variation ID SNP ID
1CASKp.Tyr268HisVAR_062996
2CASKp.Pro396SerVAR_062997
3CASKp.Asp710GlyVAR_062998

Expression for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Search GEO for disease gene expression data for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia.

Pathways for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

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Compounds for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

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GO Terms for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

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Products for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet