MCID: MNT046
MIFTS: 28

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

Categories: Genetic diseases (common), Neuronal 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 49 11 67 24 65
Mental Retardation X-Linked Cask-Related 67 24
Mental Retardation, X-Linked, Syndromic, Najm Type 67
Mental Retardation X-Linked with Nystagmus 67
 
Intellectual Deficit X-Linked Type Najm 67
Micpch Syndrome 67
Micpch 67
Mrxsna 67

Characteristics:

HPO:

61
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300749
MeSH36 D038901
UMLS65 C2677903

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

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OMIM:49 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 has symptoms including cognitive impairment, aplasia/hypoplasia of the cerebellum and cerebral cortical atrophy. 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 liver.

UniProtKB/Swiss-Prot:67 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:68 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 type12.0

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

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

(show all 57)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
3 cerebral cortical atrophy typical (50%) HP:0002120
4 gait disturbance typical (50%) HP:0001288
5 seizures typical (50%) HP:0001250
6 nystagmus typical (50%) HP:0000639
7 myopia typical (50%) HP:0000545
8 cataract typical (50%) HP:0000518
9 visual impairment typical (50%) HP:0000505
10 strabismus typical (50%) HP:0000486
11 sensorineural hearing impairment typical (50%) HP:0000407
12 macrotia typical (50%) HP:0000400
13 abnormality of the nose typical (50%) HP:0000366
14 micrognathia typical (50%) HP:0000347
15 long philtrum typical (50%) HP:0000343
16 broad forehead typical (50%) HP:0000337
17 hypertelorism typical (50%) HP:0000316
18 microcephaly typical (50%) HP:0000252
19 macrogyria occasional (7.5%) HP:0007227
20 scoliosis occasional (7.5%) HP:0002650
21 neurological speech impairment occasional (7.5%) HP:0002167
22 hypertonia occasional (7.5%) HP:0001276
23 optic atrophy occasional (7.5%) HP:0000648
24 optic nerve hypoplasia occasional (7.5%) HP:0000609
25 chorioretinal coloboma occasional (7.5%) HP:0000567
26 optic disc pallor occasional (7.5%) HP:0000543
27 strabismus occasional (7.5%) HP:0000486
28 seizures rare (5%) HP:0001250
29 nystagmus rare (5%) HP:0000639
30 sensorineural hearing impairment rare (5%) HP:0000407
31 muscular hypotonia of the trunk HP:0008936
32 postnatal growth retardation HP:0008897
33 decreased body weight HP:0004325
34 short stature HP:0004322
35 short nose HP:0003196
36 intellectual disability, moderate HP:0002342
37 dilated fourth ventricle HP:0002198
38 hyperreflexia HP:0001347
39 absent speech HP:0001344
40 muscle weakness HP:0001324
41 cerebellar hypoplasia HP:0001321
42 generalized hypotonia HP:0001290
43 global developmental delay HP:0001263
44 spasticity HP:0001257
45 large eyes HP:0001090
46 hypohidrosis HP:0000966
47 broad nasal tip HP:0000455
48 wide nasal bridge HP:0000431
49 prominent nasal bridge HP:0000426
50 macrotia HP:0000400
51 micrognathia HP:0000347
52 long philtrum HP:0000343
53 hypertelorism HP:0000316
54 oval face HP:0000300
55 epicanthus HP:0000286
56 microcephaly HP:0000252
57 high palate HP:0000218

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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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:

33
Eye, Cerebellum, Liver

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
Liver-specific transgenic expression of cholesteryl ester hydrolase reduces atherosclerosis in Ldlr-/- mice. (24563511)
2014

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:

67
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:

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)deletionPathogenicrs797045431GRCh38Chr X, 41553777: 41553777
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
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