MCID: MCR345
MIFTS: 12

Microcephaly with Simplified Gyral Pattern

Aliases & Classifications for Microcephaly with Simplified Gyral Pattern

MalaCards integrated aliases for Microcephaly with Simplified Gyral Pattern:

Name: Microcephaly with Simplified Gyral Pattern 57 29

External Ids:

OMIM 57 603802

Summaries for Microcephaly with Simplified Gyral Pattern

MalaCards based summary : Microcephaly with Simplified Gyral Pattern is related to microcephaly and epilepsy. An important gene associated with Microcephaly with Simplified Gyral Pattern is IER3IP1 (Immediate Early Response 3 Interacting Protein 1). Affiliated tissues include brain.

Description from OMIM: 603802

Related Diseases for Microcephaly with Simplified Gyral Pattern

Diseases related to Microcephaly with Simplified Gyral Pattern via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 29.2 AKT3 IER3IP1
2 epilepsy 10.2
3 corpus callosum, agenesis of 10.1
4 congenital nervous system abnormality 9.2 AKT3 IER3IP1

Symptoms & Phenotypes for Microcephaly with Simplified Gyral Pattern

Clinical features from OMIM:

603802

Drugs & Therapeutics for Microcephaly with Simplified Gyral Pattern

Search Clinical Trials , NIH Clinical Center for Microcephaly with Simplified Gyral Pattern

Genetic Tests for Microcephaly with Simplified Gyral Pattern

Genetic tests related to Microcephaly with Simplified Gyral Pattern:

# Genetic test Affiliating Genes
1 Microcephaly with Simplified Gyral Pattern 29

Anatomical Context for Microcephaly with Simplified Gyral Pattern

MalaCards organs/tissues related to Microcephaly with Simplified Gyral Pattern:

41
Brain

Publications for Microcephaly with Simplified Gyral Pattern

Articles related to Microcephaly with Simplified Gyral Pattern:

# Title Authors Year
1
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. ( 29356416 )
2018
2
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature. ( 28711742 )
2017
3
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). ( 22991235 )
2012
4
Microcephaly with simplified gyral pattern: MRI classification. ( 20124203 )
2010
5
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. ( 18053786 )
2008
6
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. ( 17975804 )
2007
7
Microcephaly with simplified gyral pattern in six related children. ( 10323739 )
1999

Variations for Microcephaly with Simplified Gyral Pattern

Expression for Microcephaly with Simplified Gyral Pattern

Search GEO for disease gene expression data for Microcephaly with Simplified Gyral Pattern.

Pathways for Microcephaly with Simplified Gyral Pattern

GO Terms for Microcephaly with Simplified Gyral Pattern

Sources for Microcephaly with Simplified Gyral Pattern

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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