MCID: MNT046
MIFTS: 31

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

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

About this section

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

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 49 11 24 67
Mental Retardation, X-Linked, Syndromic, Najm Type 67
Mental Retardation X-Linked with Nystagmus 67
Mental Retardation X-Linked Cask-Related 67
 
Intellectual Deficit X-Linked Type Najm 67
Micpch Syndrome 67
Micpch 67
Mrxsna 67


Classifications:



External Ids:

OMIM49 300749
MeSH36 D038901

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

About this section
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, syndromic, najm type, is related to x-linked intellectual disability, najm type and microcephaly, 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 (MAGUK Family)). Affiliated tissues include eye and cerebellum.

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.

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

About this section

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 type10.7
2microcephaly10.5
3cerebellar hypoplasia10.5
4cask-related intellectual disability10.2
5fg syndrome 410.1

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...

About this section

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 58)
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 x-linked dominant inheritance HP:0001423
52 dilated fourth ventricle HP:0002198
53 intellectual disability, moderate HP:0002342
54 short nose HP:0003196
55 short stature HP:0004322
56 decreased body weight HP:0004325
57 postnatal growth retardation HP:0008897
58 muscular hypotonia of the trunk HP:0008936

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

About this section

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...

About this section

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 Hypoplasia24

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

About this section

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

33
Eye, Cerebellum

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

About this section

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

About this section

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...

About this section

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 variantPathogenicGRCh37Chr 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...

About this section
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...

About this section

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

About this section

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

About this section
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