MCID: MNT046
MIFTS: 27

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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Wikipedia:65 Intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

MalaCards based summary: 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 cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia, intellectual deficit/mental/psychomotor retardation/learning disability and x-linked dominant inheritance. 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, brain and cerebellum.

Description from OMIM:46 300749

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

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia, Aliases & Descriptions:

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 46 62
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia 48
 
X-Linked Intellectual Disability, Najm Type 48
Micpch 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 300749
ICD10 via Orphanet26 Q04.3

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

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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
4cask-related intellectual disability10.2
5fg syndrome 410.0

Graphical network of diseases related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:



Diseases related to mental retardation and microcephaly with pontine and cerebellar hypoplasia

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

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Symptoms by clinical synopsis from OMIM:

300749

Clinical features from OMIM:

300749

Symptoms:

48 (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

HPO human phenotypes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

(show all 53)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
2 cognitive impairment hallmark (90%) HP:0100543
3 microcephaly typical (50%) HP:0000252
4 hypertelorism typical (50%) HP:0000316
5 broad forehead typical (50%) HP:0000337
6 long philtrum typical (50%) HP:0000343
7 micrognathia typical (50%) HP:0000347
8 abnormality of the nose typical (50%) HP:0000366
9 macrotia typical (50%) HP:0000400
10 sensorineural hearing impairment typical (50%) HP:0000407
11 strabismus typical (50%) HP:0000486
12 visual impairment typical (50%) HP:0000505
13 cataract typical (50%) HP:0000518
14 myopia typical (50%) HP:0000545
15 nystagmus typical (50%) HP:0000639
16 seizures typical (50%) HP:0001250
17 gait disturbance typical (50%) HP:0001288
18 cerebral cortical atrophy typical (50%) HP:0002120
19 strabismus occasional (7.5%) HP:0000486
20 optic disc pallor occasional (7.5%) HP:0000543
21 optic nerve hypoplasia occasional (7.5%) HP:0000609
22 scoliosis occasional (7.5%) HP:0002650
23 macrogyria occasional (7.5%) HP:0007227
24 chorioretinal coloboma occasional (7.5%) HP:0000567
25 optic atrophy occasional (7.5%) HP:0000648
26 hypertonia occasional (7.5%) HP:0001276
27 neurological speech impairment occasional (7.5%) HP:0002167
28 scoliosis occasional (7.5%) HP:0002650
29 sensorineural hearing impairment rare (5%) HP:0000407
30 seizures rare (5%) HP:0001250
31 microcephaly HP:0000252
32 epicanthus HP:0000286
33 hypertelorism HP:0000316
34 long philtrum HP:0000343
35 micrognathia HP:0000347
36 macrotia HP:0000400
37 prominent nasal bridge HP:0000426
38 wide nasal bridge HP:0000431
39 broad nasal tip HP:0000455
40 spasticity HP:0001257
41 global developmental delay HP:0001263
42 generalized hypotonia HP:0001290
43 cerebellar hypoplasia HP:0001321
44 absent speech HP:0001344
45 x-linked dominant inheritance HP:0001423
46 abnormal facial shape HP:0001999
47 dilated fourth ventricle HP:0002198
48 intellectual disability, moderate HP:0002342
49 short nose HP:0003196
50 short stature HP:0004322
51 decreased body weight HP:0004325
52 postnatal growth retardation HP:0008897
53 muscular hypotonia of the trunk HP:0008936

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

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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

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

32
Eye, Brain, Cerebellum

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

64
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:

6
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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet