MCID: UNL006
MIFTS: 15

Unilateral Focal Polymicrogyria malady

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Unilateral Focal Polymicrogyria

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Summaries for Unilateral Focal Polymicrogyria

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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 are Signaling by Rho GTPases and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include brain.

Related Diseases for Unilateral Focal Polymicrogyria

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

idRelated DiseaseScoreTop Affiliating Genes
1invasive pneumococcal disease, recurrent isolated, 19.8ARHGEF2, FGD1
2scott syndrome9.8
3aarskog-scott syndrome9.8
4polymicrogyria9.8
5isolated partial cerebellar vermis agenesis9.7ARHGEF2, FGD1

Graphical network of diseases related to Unilateral Focal Polymicrogyria:



Diseases related to unilateral focal polymicrogyria

Symptoms & Phenotypes for Unilateral Focal Polymicrogyria

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Drugs & Therapeutics for Unilateral Focal Polymicrogyria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Unilateral Focal Polymicrogyria

Genetic Tests for Unilateral Focal Polymicrogyria

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Anatomical Context for Unilateral Focal Polymicrogyria

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MalaCards organs/tissues related to Unilateral Focal Polymicrogyria:

36
Brain

Publications for Unilateral Focal Polymicrogyria

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Articles related to Unilateral Focal Polymicrogyria:

idTitleAuthorsYear
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

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Expression for genes affiliated with Unilateral Focal Polymicrogyria

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

Pathways for genes affiliated with Unilateral Focal Polymicrogyria

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GO Terms for genes affiliated with Unilateral Focal Polymicrogyria

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

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:00429959.1ARHGEF2, FGD1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of apoptotic processGO:00430659.8ARHGEF2, FGD1
2positive regulation of GTPase activityGO:00435479.7ARHGEF2, FGD1
3regulation of Rho protein signal transductionGO:00350239.7ARHGEF2, FGD1
4regulation of small GTPase mediated signal transductionGO:00510569.1ARHGEF2, FGD1

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

idNameGO IDScoreTop Affiliating Genes
1guanyl-nucleotide exchange factor activityGO:00050859.6ARHGEF2, FGD1
2Rho guanyl-nucleotide exchange factor activityGO:00050899.1ARHGEF2, FGD1

Sources for Unilateral Focal Polymicrogyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet