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...

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

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 54 12 66 29 13 69
Micpch 12 56 66
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome 12 56
Syndromic X-Linked Intellectual Disability Najm Type 12 14
Mental Retardation X-Linked Cask-Related 66 29
Mental Retardation, X-Linked, Syndromic, Najm Type 66
X-Linked Intellectual Disability, Najm Type 56
Mental Retardation X-Linked with Nystagmus 66
Intellectual Deficit X-Linked Type Najm 66
Micpch Syndrome 66
Mrxsna 66

Characteristics:

Orphanet epidemiological data:

56
x-linked intellectual disability, najm type
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
mental retardation and microcephaly with pontine and cerebellar hypoplasia:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300749
Disease Ontology 12 DOID:0060807
ICD10 33 Q04.3
Orphanet 56 ORPHA163937
ICD10 via Orphanet 34 Q04.3
MeSH 42 D038901

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

OMIM : 54 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 seizures, hypertelorism and nystagmus. 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 phenotypes are craniofacial and vision/eye

Disease Ontology : 12 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 : 66 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...

Graphical network of the top 20 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...

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:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 spasticity 56 32 Occasional (29-5%) HP:0001257
5 scoliosis 56 32 Occasional (29-5%) HP:0002650
6 macrotia 56 32 Frequent (79-30%) HP:0000400
7 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
8 microcephaly 56 32 Frequent (79-30%) HP:0000252
9 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
10 long philtrum 56 32 Frequent (79-30%) HP:0000343
11 micrognathia 56 32 Frequent (79-30%) HP:0000347
12 strabismus 56 32 Frequent (79-30%) HP:0000486
13 absent speech 56 32 Occasional (29-5%) HP:0001344
14 optic nerve hypoplasia 56 32 Occasional (29-5%) HP:0000609
15 cerebellar hypoplasia 56 32 Very frequent (99-80%) HP:0001321
16 intellectual disability, moderate 56 32 Very frequent (99-80%) HP:0002342
17 muscle weakness 32 HP:0001324
18 high palate 32 HP:0000218
19 gait disturbance 56 Frequent (79-30%)
20 hyperreflexia 32 HP:0001347
21 failure to thrive 56 Occasional (29-5%)
22 cataract 56 Frequent (79-30%)
23 global developmental delay 32 HP:0001263
24 short nose 32 HP:0003196
25 visual impairment 56 Frequent (79-30%)
26 optic atrophy 56 Occasional (29-5%)
27 short stature 32 HP:0004322
28 epicanthus 32 HP:0000286
29 severe global developmental delay 56 Very frequent (99-80%)
30 hypohidrosis 32 HP:0000966
31 postnatal growth retardation 32 HP:0008897
32 cerebral cortical atrophy 56 Frequent (79-30%)
33 prominent nasal bridge 32 HP:0000426
34 broad forehead 56 Frequent (79-30%)
35 myopia 56 Frequent (79-30%)
36 chorioretinal coloboma 56 Occasional (29-5%)
37 rigidity 56 Occasional (29-5%)
38 broad nasal tip 32 HP:0000455
39 decreased body weight 32 HP:0004325
40 optic disc pallor 32 HP:0000543
41 generalized hypotonia 32 HP:0001290
42 oval face 32 HP:0000300
43 muscular hypotonia of the trunk 32 HP:0008936
44 large eyes 32 HP:0001090
45 dilated fourth ventricle 32 HP:0002198
46 progressive microcephaly 32 HP:0000253
47 macrogyria 32 HP:0007227

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 CASK GLDC KMT2D MAP2K2 MECP2 ZEB2
2 vision/eye MP:0005391 9.1 CASK GLDC MAP2K2 MECP2 TRIP13 ZEB2

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

Search Clinical Trials , NIH Clinical Center for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Genetic Tests for Mental Retardation and Microcephaly with Pontine and Cerebellar...

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 Hypoplasia 29
2 Mental Retardation, Cask-Related, X-Linked 29

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

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

39
Eye, Brain

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

Articles related to Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

id Title Authors Year
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...

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

66
id Symbol AA change Variation ID SNP ID
1 CASK p.Tyr268His VAR_062996 rs137852817
2 CASK p.Pro396Ser VAR_062997 rs137852820
3 CASK p.Asp710Gly VAR_062998 rs137852818

ClinVar genetic disease variations for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASK NM_003688.3(CASK): c.1915C> T (p.Arg639Ter) single nucleotide variant Pathogenic rs137852815 GRCh37 Chromosome X, 41413096: 41413096
2 CASK NM_003688.3(CASK): c.915G> A (p.Lys305=) single nucleotide variant Pathogenic rs387906499 GRCh37 Chromosome X, 41495831: 41495831
3 CASK NM_003688.3(CASK): c.2168A> G (p.Tyr723Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122844 GRCh37 Chromosome X, 41394199: 41394199
4 CASK NM_003688.3(CASK): c.316C> T (p.Arg106Ter) single nucleotide variant Pathogenic rs387906704 GRCh37 Chromosome X, 41604817: 41604817
5 CASK NG_016754.1: g.5000-?_5105+?del deletion Pathogenic
6 CASK NM_003688.3(CASK): c.1639C> T (p.Gln547Ter) single nucleotide variant Pathogenic rs387906705 GRCh37 Chromosome X, 41420841: 41420841
7 CASK NM_003688.3(CASK): c.1644_1645delAG (p.Val549Glyfs) deletion Pathogenic rs587783357 GRCh37 Chromosome X, 41420835: 41420836
8 CASK NM_003688.3(CASK): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs587783360 GRCh37 Chromosome X, 41402058: 41402058
9 CASK NM_003688.3(CASK): c.2074C> T (p.Gln692Ter) single nucleotide variant Pathogenic rs587783361 GRCh37 Chromosome X, 41402025: 41402025
10 CASK NM_003688.3(CASK): c.20_27delTGTTCGAG (p.Leu7Argfs) deletion Pathogenic rs587783362 GRCh38 Chromosome X, 41922962: 41922969
11 CASK NM_003688.3(CASK): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs587783364 GRCh38 Chromosome X, 41531042: 41531042
12 CASK NM_003688.3(CASK): c.430-2A> T single nucleotide variant Pathogenic rs587783366 GRCh37 Chromosome X, 41530785: 41530785
13 CASK NM_003688.3(CASK): c.708+1G> A single nucleotide variant Pathogenic rs587783368 GRCh38 Chromosome X, 41665276: 41665276
14 CASK NM_003688.3(CASK): c.764G> A (p.Arg255His) single nucleotide variant Likely pathogenic rs587783369 GRCh38 Chromosome X, 41660506: 41660506
15 CASK NM_003688.3(CASK): c.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs587783370 GRCh38 Chromosome X, 41853205: 41853205
16 CASK NM_003688.3(CASK): c.880C> T (p.Gln294Ter) single nucleotide variant Pathogenic rs587783371 GRCh37 Chromosome X, 41495866: 41495866
17 CASK NM_003688.3(CASK): c.1976G> A (p.Gly659Asp) single nucleotide variant Pathogenic rs727505397 GRCh37 Chromosome X, 41413035: 41413035
18 CASK NM_003688.3(CASK): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs794727270 GRCh37 Chromosome X, 41712461: 41712461
19 CASK NM_003688.3(CASK): c.2531_2532delAG (p.Glu844Valfs) deletion Pathogenic rs797045433 GRCh38 Chromosome X, 41524008: 41524009
20 CASK NM_003688.3(CASK): c.2377C> T (p.Gln793Ter) single nucleotide variant Pathogenic rs749742837 GRCh37 Chromosome X, 41390388: 41390388
21 CASK NM_003688.3(CASK): c.1981delC (p.Leu661Trpfs) deletion Pathogenic rs797045431 GRCh38 Chromosome X, 41553777: 41553777
22 CASK NM_003688.3(CASK): c.2303-2A> G single nucleotide variant Pathogenic rs863224854 GRCh37 Chromosome X, 41390464: 41390464
23 CASK NM_003688.3: c.116_117delCA deletion Pathogenic

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

Search GEO for disease gene expression data for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia.

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

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

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.36 CASK GLDC KDM5C KMT2D MAP2K2 MECP2

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

id Name GO ID Score Top Affiliating Genes
1 chromatin silencing GO:0006342 8.96 KMT2D MECP2
2 oogenesis GO:0048477 8.62 KMT2D TRIP13

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
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42 MeSH
43 MESH via Orphanet
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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