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 51 11 69 26 12 67
Micpch 11 53 69
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 11 53
Mental Retardation X-Linked Cask-Related 69 26
Syndromic X-Linked Intellectual Disability Najm Type 11
Mental Retardation, X-Linked, Syndromic, Najm Type 69
 
X-Linked Intellectual Disability, Najm Type 53
Mental Retardation X-Linked with Nystagmus 69
Intellectual Deficit X-Linked Type Najm 69
Micpch Syndrome 69
Mrxsna 69

Characteristics:

Orphanet epidemiological data:

53
micpch:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM51 300749
Disease Ontology11 DOID:0060807
ICD1029 Q04.3
Orphanet53 ORPHA163937
ICD10 via Orphanet30 Q04.3
MeSH38 D038901

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

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OMIM:51 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 micpch, 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.

Disease Ontology:11 A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has material basis in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.

UniProtKB/Swiss-Prot:69 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:70 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 type11.5
2cerebellar hypoplasia10.1
3microcephaly10.1

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

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

 63 53 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the cerebellum63 hallmark (90%) HP:0007360
2 cognitive impairment63 hallmark (90%) HP:0100543
3 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
4 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
5 broad forehead63 53 typical (50%) Frequent (79-30%) HP:0000337
6 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
7 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
8 abnormality of the nose63 typical (50%) HP:0000366
9 macrotia63 53 typical (50%) Frequent (79-30%) HP:0000400
10 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
11 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
12 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
13 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
14 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
15 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
16 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
17 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
18 cerebral cortical atrophy63 53 typical (50%) Frequent (79-30%) HP:0002120
19 optic disc pallor63 occasional (7.5%) HP:0000543
20 chorioretinal coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000567
21 optic nerve hypoplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000609
22 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
23 hypertonia63 occasional (7.5%) HP:0001276
24 neurological speech impairment63 occasional (7.5%) HP:0002167
25 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
26 macrogyria63 occasional (7.5%) HP:0007227
27 high palate63 HP:0000218
28 epicanthus63 HP:0000286
29 oval face63 HP:0000300
30 prominent nasal bridge63 HP:0000426
31 wide nasal bridge63 53 Frequent (79-30%) HP:0000431
32 broad nasal tip63 HP:0000455
33 hypohidrosis63 HP:0000966
34 large eyes63 HP:0001090
35 spasticity63 53 Occasional (29-5%) HP:0001257
36 global developmental delay63 HP:0001263
37 generalized hypotonia63 HP:0001290
38 cerebellar hypoplasia63 53 Very frequent (99-80%) HP:0001321
39 muscle weakness63 HP:0001324
40 absent speech63 53 Occasional (29-5%) HP:0001344
41 hyperreflexia63 HP:0001347
42 dilated fourth ventricle63 HP:0002198
43 intellectual disability, moderate63 53 Very frequent (99-80%) HP:0002342
44 short nose63 HP:0003196
45 short stature63 HP:0004322
46 decreased body weight63 HP:0004325
47 postnatal growth retardation63 HP:0008897
48 muscular hypotonia of the trunk63 HP:0008936
49 failure to thrive53 Occasional (29-5%)
50 rigidity53 Occasional (29-5%)
51 severe global developmental delay53 Very frequent (99-80%)

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 Hypoplasia26
2 Mental Retardation, Cask-Related, X-Linked26

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:

35
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:

69
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)SNVPathogenicrs137852815GRCh37Chr X, 41413096: 41413096
2CASKNM_003688.3(CASK): c.915G> A (p.Lys305=)SNVPathogenicrs387906499GRCh37Chr 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)SNVPathogenicrs587783360GRCh37Chr X, 41402058: 41402058
5CASKNM_003688.3(CASK): c.2074C> T (p.Gln692Ter)SNVPathogenicrs587783361GRCh37Chr 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)SNVPathogenicrs587783364GRCh37Chr X, 41390295: 41390295
8CASKNM_003688.3(CASK): c.430-2A> TSNVPathogenicrs587783366GRCh37Chr X, 41530785: 41530785
9CASKNM_003688.3(CASK): c.708+1G> ASNVPathogenicrs587783368GRCh37Chr X, 41524529: 41524529
10CASKNM_003688.3(CASK): c.764G> A (p.Arg255His)SNVLikely pathogenicrs587783369GRCh37Chr X, 41519759: 41519759
11CASKNM_003688.3(CASK): c.880C> T (p.Gln294Ter)SNVPathogenicrs587783371GRCh37Chr X, 41495866: 41495866
12CASKNM_003688.3(CASK): c.55G> A (p.Gly19Arg)SNVLikely pathogenicrs727503840GRCh37Chr X, 41782187: 41782187
13CASKNM_003688.3(CASK): c.1976G> A (p.Gly659Asp)SNVPathogenicrs727505397GRCh37Chr X, 41413035: 41413035
14CASKNM_003688.3(CASK): c.79C> T (p.Arg27Ter)SNVPathogenicrs794727270GRCh37Chr X, 41712461: 41712461
15CASKNM_003688.3(CASK): c.1981delC (p.Leu661Trpfs)deletionPathogenicrs797045431GRCh38Chr X, 41553777: 41553777
16CASKNM_003688.3(CASK): c.2377C> T (p.Gln793Ter)SNVPathogenicrs749742837GRCh37Chr X, 41390388: 41390388
17CASKNM_003688.3(CASK): c.2531_2532delAG (p.Glu844Valfs)deletionPathogenicrs797045433GRCh38Chr X, 41524008: 41524009
18CASKNM_003688.3(CASK): c.2303-2A> GSNVPathogenicrs863224854GRCh37Chr X, 41390464: 41390464
19CASKNM_003688.3(CASK): c.2168A> G (p.Tyr723Cys)SNVLikely pathogenic, Pathogenicrs398122844GRCh37Chr X, 41394199: 41394199
20CASKNM_003688.3(CASK): c.316C> T (p.Arg106Ter)SNVPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
21CASKNG_016754.1: g.5000-?_5105+?deldeletionPathogenicChr na, -1: -1
22CASKNM_003688.3(CASK): c.1639C> T (p.Gln547Ter)SNVPathogenicrs387906705GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet