MCID: UNL006
MIFTS: 15

Unilateral Focal Polymicrogyria

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Unilateral Focal Polymicrogyria

Summaries for Unilateral Focal Polymicrogyria

MalaCards based summary : Unilateral Focal Polymicrogyria is related to aarskog-scott syndrome and scott syndrome. An important gene associated with Unilateral Focal Polymicrogyria is ARHGEF2 (Rho/Rac Guanine Nucleotide Exchange Factor 2), and among its related pathways/superpathways are Signaling by Rho GTPases and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include brain.

Related Diseases for Unilateral Focal Polymicrogyria

Diseases related to Unilateral Focal Polymicrogyria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 29.0 ARHGEF2 FGD1
2 scott syndrome 28.8 ARHGEF2 FGD1
3 polymicrogyria, bilateral temporooccipital 9.8
4 polymicrogyria 9.8

Symptoms & Phenotypes for Unilateral Focal Polymicrogyria

Drugs & Therapeutics for Unilateral Focal Polymicrogyria

Search Clinical Trials , NIH Clinical Center for Unilateral Focal Polymicrogyria

Genetic Tests for Unilateral Focal Polymicrogyria

Anatomical Context for Unilateral Focal Polymicrogyria

MalaCards organs/tissues related to Unilateral Focal Polymicrogyria:

38
Brain

Publications for Unilateral Focal Polymicrogyria

Articles related to Unilateral Focal Polymicrogyria:

# Title Authors Year
1
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. ( 17847065 )
2007

Variations for Unilateral Focal Polymicrogyria

Expression for Unilateral Focal Polymicrogyria

Search GEO for disease gene expression data for Unilateral Focal Polymicrogyria.

Pathways for Unilateral Focal Polymicrogyria

GO Terms for Unilateral Focal Polymicrogyria

Cellular components related to Unilateral Focal Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 ARHGEF2 FGD1

Biological processes related to Unilateral Focal Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.26 ARHGEF2 FGD1
2 regulation of molecular function GO:0065009 9.16 ARHGEF2 FGD1
3 regulation of small GTPase mediated signal transduction GO:0051056 8.96 ARHGEF2 FGD1
4 regulation of Rho protein signal transduction GO:0035023 8.62 ARHGEF2 FGD1

Molecular functions related to Unilateral Focal Polymicrogyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 8.96 ARHGEF2 FGD1
2 Rho guanyl-nucleotide exchange factor activity GO:0005089 8.62 ARHGEF2 FGD1

Sources for Unilateral Focal Polymicrogyria

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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31 HPO
32 ICD10
33 ICD10 via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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