MCID: MCR285
MIFTS: 12

Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards integrated aliases for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome:

Name: Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA171703

Summaries for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards based summary : Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome An important gene associated with Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome is EOMES (Eomesodermin). Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and congenital microcephaly

Related Diseases for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Symptoms & Phenotypes for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Human phenotypes related to Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome:

58 31 (showing 7, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
2 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
3 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
4 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
5 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
6 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
7 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126

Drugs & Therapeutics for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Genetic Tests for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Anatomical Context for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards organs/tissues related to Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome:

40
Brain

Publications for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Variations for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Expression for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Search GEO for disease gene expression data for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome.

Pathways for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

GO Terms for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Biological processes related to Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 EOMES DISC1

Sources for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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