MCID: UNL006
MIFTS: 14

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 p75 NTR receptor-mediated signalling. 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 28.6 ARHGEF2 FGD1
2 scott syndrome 28.2 ARHGEF2 FGD1
3 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:

41
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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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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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