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...

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 52 11 70 27 12 68
Micpch 11 54 70
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 11 54
Mental Retardation X-Linked Cask-Related 70 27
Syndromic X-Linked Intellectual Disability Najm Type 11
Mental Retardation, X-Linked, Syndromic, Najm Type 70
 
X-Linked Intellectual Disability, Najm Type 54
Mental Retardation X-Linked with Nystagmus 70
Intellectual Deficit X-Linked Type Najm 70
Micpch Syndrome 70
Mrxsna 70

Characteristics:

Orphanet epidemiological data:

54
micpch:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM52 300749
Disease Ontology11 DOID:0060807
ICD1030 Q04.3
Orphanet54 ORPHA163937
ICD10 via Orphanet31 Q04.3
MeSH39 D038901

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

About this section
OMIM:52 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:70 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:71 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...

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 type11.5
2cerebellar hypoplasia10.1
3microcephaly10.1

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

About this section

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:

 64 54 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the cerebellum64 hallmark (90%) HP:0007360
2 cognitive impairment64 hallmark (90%) HP:0100543
3 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
4 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
5 broad forehead64 54 typical (50%) Frequent (79-30%) HP:0000337
6 long philtrum64 54 typical (50%) Frequent (79-30%) HP:0000343
7 micrognathia64 54 typical (50%) Frequent (79-30%) HP:0000347
8 abnormality of the nose64 typical (50%) HP:0000366
9 macrotia64 54 typical (50%) Frequent (79-30%) HP:0000400
10 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
11 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
12 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
13 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
14 myopia64 54 typical (50%) Frequent (79-30%) HP:0000545
15 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
16 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
17 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
18 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
19 optic disc pallor64 occasional (7.5%) HP:0000543
20 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
21 optic nerve hypoplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000609
22 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
23 hypertonia64 occasional (7.5%) HP:0001276
24 neurological speech impairment64 occasional (7.5%) HP:0002167
25 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
26 macrogyria64 occasional (7.5%) HP:0007227
27 high palate64 HP:0000218
28 epicanthus64 HP:0000286
29 oval face64 HP:0000300
30 prominent nasal bridge64 HP:0000426
31 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
32 broad nasal tip64 HP:0000455
33 hypohidrosis64 HP:0000966
34 large eyes64 HP:0001090
35 spasticity64 54 Occasional (29-5%) HP:0001257
36 global developmental delay64 HP:0001263
37 generalized hypotonia64 HP:0001290
38 cerebellar hypoplasia64 54 Very frequent (99-80%) HP:0001321
39 muscle weakness64 HP:0001324
40 absent speech64 54 Occasional (29-5%) HP:0001344
41 hyperreflexia64 HP:0001347
42 dilated fourth ventricle64 HP:0002198
43 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
44 short nose64 HP:0003196
45 short stature64 HP:0004322
46 decreased body weight64 HP:0004325
47 postnatal growth retardation64 HP:0008897
48 muscular hypotonia of the trunk64 HP:0008936
49 failure to thrive54 Occasional (29-5%)
50 rigidity54 Occasional (29-5%)
51 severe global developmental delay54 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...

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 Hypoplasia27
2 Mental Retardation, Cask-Related, X-Linked27

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:

36
Eye, Cerebellum, Brain

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:

70
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...

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet