MCID: UNL006
MIFTS: 15

Unilateral Focal Polymicrogyria malady

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 invasive pneumococcal disease, recurrent isolated, 1 and scott syndrome. An important gene associated with Unilateral Focal Polymicrogyria is FGD1 (FYVE, RhoGEF And PH Domain Containing 1), 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:

id Related Disease Score Top Affiliating Genes
1 invasive pneumococcal disease, recurrent isolated, 1 9.8 ARHGEF2 FGD1
2 scott syndrome 9.8
3 aarskog-scott syndrome 9.8
4 polymicrogyria 9.8
5 isolated partial cerebellar vermis agenesis 9.7 ARHGEF2 FGD1

Graphical network of the top 20 diseases related to Unilateral Focal Polymicrogyria:



Diseases related to Unilateral Focal Polymicrogyria

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:

39
Brain

Publications for Unilateral Focal Polymicrogyria

Articles related to Unilateral Focal Polymicrogyria:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.26 ARHGEF2 FGD1
2 positive regulation of apoptotic process GO:0043065 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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