MCID: MNT046
MIFTS: 31

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

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

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

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Aliases & Descriptions for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 50 68 25 12 66
Mental Retardation X-Linked Cask-Related 68 25
Micpch 52 68
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 52
Mental Retardation, X-Linked, Syndromic, Najm Type 68
 
X-Linked Intellectual Disability, Najm Type 52
Mental Retardation X-Linked with Nystagmus 68
Intellectual Deficit X-Linked Type Najm 68
Micpch Syndrome 68
Mrxsna 68

Characteristics:

Orphanet epidemiological data:

52
micpch:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 300749
Orphanet52 ORPHA163937
ICD10 via Orphanet29 Q04.3
MeSH37 D038901

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

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OMIM:50 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting... (300749) more...

MalaCards based summary: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia, also known as mental retardation x-linked cask-related, is related to x-linked intellectual disability, najm type and cerebellar hypoplasia, and has symptoms including aplasia/hypoplasia of the cerebellum, cognitive impairment and microcephaly. An important gene associated with Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include eye, cerebellum and brain.

UniProtKB/Swiss-Prot:68 Mental retardation and microcephaly with pontine and cerebellar hypoplasia: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.

Wikipedia:69 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1x-linked intellectual disability, najm type11.6
2cerebellar hypoplasia10.2
3microcephaly10.2

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:

 52 (show all 27)
  • microcephaly
  • hypertelorism
  • broad forehead
  • long philtrum
  • micrognathia
  • macrotia
  • sensorineural hearing impairment
  • wide nasal bridge
  • strabismus
  • visual impairment
  • cataract
  • myopia
  • chorioretinal coloboma
  • optic nerve hypoplasia
  • nystagmus
  • optic atrophy
  • seizures
  • spasticity
  • gait disturbance
  • cerebellar hypoplasia
  • absent speech
  • failure to thrive
  • rigidity
  • cerebral cortical atrophy
  • intellectual disability, moderate
  • scoliosis
  • severe global developmental delay

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

(show all 57)
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 chorioretinal coloboma occasional (7.5%) HP:0000567
22 optic nerve hypoplasia occasional (7.5%) HP:0000609
23 optic atrophy occasional (7.5%) HP:0000648
24 hypertonia occasional (7.5%) HP:0001276
25 neurological speech impairment occasional (7.5%) HP:0002167
26 scoliosis occasional (7.5%) HP:0002650
27 macrogyria occasional (7.5%) HP:0007227
28 sensorineural hearing impairment rare (5%) HP:0000407
29 nystagmus rare (5%) HP:0000639
30 seizures rare (5%) HP:0001250
31 high palate HP:0000218
32 microcephaly HP:0000252
33 epicanthus HP:0000286
34 oval face HP:0000300
35 hypertelorism HP:0000316
36 long philtrum HP:0000343
37 micrognathia HP:0000347
38 macrotia HP:0000400
39 prominent nasal bridge HP:0000426
40 wide nasal bridge HP:0000431
41 broad nasal tip HP:0000455
42 hypohidrosis HP:0000966
43 large eyes HP:0001090
44 spasticity HP:0001257
45 global developmental delay HP:0001263
46 generalized hypotonia HP:0001290
47 cerebellar hypoplasia HP:0001321
48 muscle weakness HP:0001324
49 absent speech HP:0001344
50 hyperreflexia HP:0001347
51 dilated fourth ventricle HP:0002198
52 intellectual disability, moderate HP:0002342
53 short nose HP:0003196
54 short stature HP:0004322
55 decreased body weight HP:0004325
56 postnatal growth retardation HP:0008897
57 muscular hypotonia of the trunk HP:0008936

UMLS symptoms related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:


muscle spasticity

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia25
2 Mental Retardation, Cask-Related, X-Linked25

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:

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

68
id Symbol AA change Variation ID SNP ID
1CASKp.Tyr268HisVAR_062996rs137852817
2CASKp.Pro396SerVAR_062997rs137852820
3CASKp.Asp710GlyVAR_062998rs137852818

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

5 (show all 22)
id Gene Variation 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.1644_1645delAG (p.Val549Glyfs)deletionPathogenicrs587783357GRCh37Chr X, 41420835: 41420836
4CASKNM_003688.3(CASK): c.2041C> T (p.Arg681Ter)single nucleotide variantPathogenicrs587783360GRCh37Chr X, 41402058: 41402058
5CASKNM_003688.3(CASK): c.2074C> T (p.Gln692Ter)single nucleotide variantPathogenicrs587783361GRCh37Chr X, 41402025: 41402025
6CASKNM_003688.3(CASK): c.20_27delTGTTCGAG (p.Leu7Argfs)deletionPathogenicrs587783362GRCh37Chr X, 41782215: 41782222
7CASKNM_003688.3(CASK): c.2470C> T (p.Gln824Ter)single nucleotide variantPathogenicrs587783364GRCh37Chr X, 41390295: 41390295
8CASKNM_003688.3(CASK): c.430-2A> Tsingle nucleotide variantPathogenicrs587783366GRCh37Chr X, 41530785: 41530785
9CASKNM_003688.3(CASK): c.708+1G> Asingle nucleotide variantPathogenicrs587783368GRCh37Chr X, 41524529: 41524529
10CASKNM_003688.3(CASK): c.764G> A (p.Arg255His)single nucleotide variantLikely pathogenicrs587783369GRCh37Chr X, 41519759: 41519759
11CASKNM_003688.3(CASK): c.880C> T (p.Gln294Ter)single nucleotide variantPathogenicrs587783371GRCh37Chr X, 41495866: 41495866
12CASKNM_003688.3(CASK): c.55G> A (p.Gly19Arg)single nucleotide variantLikely pathogenicrs727503840GRCh37Chr X, 41782187: 41782187
13CASKNM_003688.3(CASK): c.1976G> A (p.Gly659Asp)single nucleotide variantPathogenicrs727505397GRCh37Chr X, 41413035: 41413035
14CASKNM_003688.3(CASK): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs794727270GRCh37Chr X, 41712461: 41712461
15CASKNM_003688.3(CASK): c.1981delC (p.Leu661Trpfs)deletionPathogenicrs797045431GRCh37Chr X, 41413030: 41413030
16CASKNM_003688.3(CASK): c.2377C> T (p.Gln793Ter)single nucleotide variantPathogenicrs749742837GRCh37Chr X, 41390388: 41390388
17CASKNM_003688.3(CASK): c.2531_2532delAG (p.Glu844Valfs)deletionPathogenicrs797045433GRCh38Chr X, 41524008: 41524009
18CASKNM_003688.3(CASK): c.2303-2A> Gsingle nucleotide variantPathogenicrs863224854GRCh37Chr X, 41390464: 41390464
19CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)single nucleotide variantLikely pathogenic, Pathogenicrs398122844GRCh37Chr X, 41394199: 41394199
20CASKNM_003688.3(CASK): c.316C> T (p.Arg106Ter)single nucleotide variantPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
21CASKNG_016754.1: g.5000-?_5105+?deldeletionPathogenic
22CASKNM_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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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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GO Terms 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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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet