MCID: MNT046
MIFTS: 26

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories

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

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cognitive challenges 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 disability - microcephaly - pontocerebellar hypoplasia, is related to microcephaly and cerebellar hypoplasia, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, sensorineural deafness/hearing loss and microcephaly. 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:48 300749

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
x-linked intellectual disability - 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 48 63
x-linked intellectual disability - microcephaly - pontocerebellar hypoplasia 50
x-linked intellectual disability, najm type 50
micpch 50


External Ids:

OMIM48 300749
ICD10 via Orphanet27 Q04.3

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

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18GeneCards, 19GeneDecks
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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
1microcephaly10.5
2cerebellar hypoplasia10.5
3mental retardation10.5
4fg syndrome 410.0

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

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300749

Clinical features from OMIM:

300749

Symptoms:

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

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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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34MalaCards
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MalaCards organs/tissues related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

34
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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Articles related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

idTitleAuthorsYear
1
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). (21735175)
2012

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

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

65
id Symbol AA change Variation ID SNP ID
1CASKp.Tyr268HisVAR_062996
2CASKp.Pro396SerVAR_062997
3CASKp.Asp710GlyVAR_062998

Clinvar genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1CASKNM_003688.3(CASK): c.1915C> T (p.Arg639Ter)single nucleotide variantPathogenicrs137852815GRCh37Chr X, 41413096: 41413096
2CASKNM_003688.3(CASK): c.915G> A (p.Lys305=)single nucleotide variantPathogenicrs387906499GRCh37Chr X, 41495831: 41495831
3CASKNM_003688.3(CASK): c.316C> T (p.Arg106Ter)single nucleotide variantPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
4CASKNG_016754.1: g.5000-?_5105+?deldeletionPathogenic
5CASKNM_003688.3(CASK): c.1639C> T (p.Gln547Ter)single nucleotide variantPathogenicrs387906705GRCh37Chr X, 41420841: 41420841

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

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2BioGPS, 16Gene 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
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Sources for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet