MICPCH
MCID: MNT046
MIFTS: 38

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH) 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 52 11 70 27 12 68
Micpch 11 54 70
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 11 54
Syndromic X-Linked Intellectual Disability Najm Type 11 13
Mental Retardation X-Linked Cask-Related 70 27
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...

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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 muscle spasticity, muscle spasticity and muscle weakness. 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 and brain, and related mouse phenotypes are craniofacial and vision/eye.

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.

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.

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...

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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 & Phenotypes 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:

 54 64 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Frequent (79-30%) HP:0000252
2 hypertelorism64 54 Frequent (79-30%) HP:0000316
3 broad forehead54 Frequent (79-30%)
4 long philtrum64 54 Frequent (79-30%) HP:0000343
5 micrognathia64 54 Frequent (79-30%) HP:0000347
6 macrotia64 54 Frequent (79-30%) HP:0000400
7 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
8 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
9 strabismus64 54 Frequent (79-30%) HP:0000486
10 visual impairment54 Frequent (79-30%)
11 cataract54 Frequent (79-30%)
12 myopia54 Frequent (79-30%)
13 chorioretinal coloboma54 Occasional (29-5%)
14 optic nerve hypoplasia64 54 Occasional (29-5%) HP:0000609
15 nystagmus64 54 Frequent (79-30%) HP:0000639
16 optic atrophy54 Occasional (29-5%)
17 seizures64 54 Frequent (79-30%) HP:0001250
18 spasticity64 54 Occasional (29-5%) HP:0001257
19 gait disturbance54 Frequent (79-30%)
20 cerebellar hypoplasia64 54 Very frequent (99-80%) HP:0001321
21 absent speech64 54 Occasional (29-5%) HP:0001344
22 failure to thrive54 Occasional (29-5%)
23 rigidity54 Occasional (29-5%)
24 cerebral cortical atrophy54 Frequent (79-30%)
25 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
26 scoliosis64 54 Occasional (29-5%) HP:0002650
27 severe global developmental delay54 Very frequent (99-80%)
28 high palate64 HP:0000218
29 progressive microcephaly64 HP:0000253
30 epicanthus64 HP:0000286
31 oval face64 HP:0000300
32 prominent nasal bridge64 HP:0000426
33 broad nasal tip64 HP:0000455
34 optic disc pallor64 HP:0000543
35 hypohidrosis64 HP:0000966
36 large eyes64 HP:0001090
37 global developmental delay64 HP:0001263
38 generalized hypotonia64 HP:0001290
39 muscle weakness64 HP:0001324
40 hyperreflexia64 HP:0001347
41 dilated fourth ventricle64 HP:0002198
42 short nose64 HP:0003196
43 short stature64 HP:0004322
44 decreased body weight64 HP:0004325
45 macrogyria64 HP:0007227
46 postnatal growth retardation64 HP:0008897
47 muscular hypotonia of the trunk64 HP:0008936

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


muscle spasticity, muscle weakness

MGI Mouse Phenotypes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2CASK, GLDC, KMT2D, MAP2K2, MECP2, ZEB2
2MP:00053917.5CASK, GLDC, MAP2K2, MECP2, TRIP13, ZEB2

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

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:

36
Eye, Brain

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:

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 23)
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)deletionPathogenicrs587783362GRCh38Chr X, 41922962: 41922969
7CASKNM_ 003688.3(CASK): c.2470C> T (p.Gln824Ter)SNVPathogenicrs587783364GRCh38Chr X, 41531042: 41531042
8CASKNM_ 003688.3(CASK): c.430-2A> TSNVPathogenicrs587783366GRCh37Chr X, 41530785: 41530785
9CASKNM_ 003688.3(CASK): c.708+1G> ASNVPathogenicrs587783368GRCh38Chr X, 41665276: 41665276
10CASKNM_ 003688.3(CASK): c.764G> A (p.Arg255His)SNVLikely pathogenicrs587783369GRCh38Chr X, 41660506: 41660506
11CASKNM_ 003688.3(CASK): c.82C> T (p.Arg28Ter)SNVPathogenicrs587783370GRCh38Chr X, 41853205: 41853205
12CASKNM_ 003688.3(CASK): c.880C> T (p.Gln294Ter)SNVPathogenicrs587783371GRCh37Chr X, 41495866: 41495866
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)SNVPathogenic/ Likely pathogenicrs398122844GRCh37Chr X, 41394199: 41394199
20CASKNM_ 003688.3(CASK): c.316C> T (p.Arg106Ter)SNVPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
21CASKNG_ 016754.1: g.5000-?_ 5105+?deldeletionPathogenic
22CASKNM_ 003688.3(CASK): c.1639C> T (p.Gln547Ter)SNVPathogenicrs387906705GRCh37Chr X, 41420841: 41420841
23CASKNM_ 003688.3: c.116_ 117delCAdeletionPathogenic

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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Cellular components related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056345.5CASK, GLDC, KDM5C, KMT2D, MAP2K2, MECP2

Biological processes related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin silencingGO:00063429.5KMT2D, MECP2
2oogenesisGO:00484779.4KMT2D, TRIP13

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

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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