MCID: MNT046
MIFTS: 23

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia malady

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

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

About this section


OMIM:45 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 is related to microcephaly and cerebellar hypoplasia, and has symptoms including strabismus, optic disc pallor and optic nerve hypoplasia. 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.

Wikipedia:63 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH), also known as... more...

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

About this section

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

Name: Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 300749

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
1microcephaly10.5
2cerebellar hypoplasia10.5
3mental retardation10.5
4x-linked intellectual disability, najm type10.5

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 30)
id Description Frequency HPO Source Accession
1 strabismus occasional (7.5%) HP:0000486
2 optic disc pallor occasional (7.5%) HP:0000543
3 optic nerve hypoplasia occasional (7.5%) HP:0000609
4 scoliosis occasional (7.5%) HP:0002650
5 macrogyria occasional (7.5%) HP:0007227
6 sensorineural hearing impairment rare (5%) HP:0000407
7 seizures rare (5%) HP:0001250
8 microcephaly HP:0000252
9 epicanthus HP:0000286
10 hypertelorism HP:0000316
11 long philtrum HP:0000343
12 micrognathia HP:0000347
13 macrotia HP:0000400
14 prominent nasal bridge HP:0000426
15 wide nasal bridge HP:0000431
16 broad nasal tip HP:0000455
17 spasticity HP:0001257
18 global developmental delay HP:0001263
19 generalized hypotonia HP:0001290
20 cerebellar hypoplasia HP:0001321
21 absent speech HP:0001344
22 x-linked dominant inheritance HP:0001423
23 abnormal facial shape HP:0001999
24 dilated fourth ventricle HP:0002198
25 intellectual disability, moderate HP:0002342
26 short nose HP:0003196
27 short stature HP:0004322
28 decreased body weight HP:0004325
29 postnatal growth retardation HP:0008897
30 muscular hypotonia of the trunk HP:0008936

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

About this section

Drug clinical trials:

Search ClinicalTrials for Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Search 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 Hypoplasia22

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:

31
Eye

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:

62
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:

6
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.316C> T (p.Arg106Ter)single nucleotide variantPathogenicrs387906704GRCh37Chr X, 41604817: 41604817
4CASKNG_016754.1: g.5000-?_5105+?deldeletionPathogenic
5CASKNM_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

Compounds 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

Products for genes affiliated with Mental Retardation and Microcephaly with Pontine and Cerebellar...

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet