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:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Summaries for Unilateral Focal Polymicrogyria

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MalaCards based summary: Unilateral Focal Polymicrogyria is related to scott syndrome and aarskog-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
1scott syndrome9.8
2aarskog-scott syndrome9.8
3polymicrogyria9.8
4irak4 deficiency9.5ARHGEF2, FGD1
5congenital non-communicating hydrocephalus9.3ARHGEF2, FGD1

Graphical network of diseases related to Unilateral Focal Polymicrogyria:



Diseases related to unilateral focal polymicrogyria

Symptoms 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:

35
Brain

Animal Models for Unilateral Focal Polymicrogyria or affiliated genes

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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
1Golgi apparatusGO:00057949.2ARHGEF2, FGD1
2cytoskeletonGO:00058569.1ARHGEF2, FGD1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of small GTPase mediated signal transductionGO:00510569.5ARHGEF2, FGD1
2regulation of Rho protein signal transductionGO:00350239.3ARHGEF2, FGD1
3positive regulation of apoptotic processGO:00430659.1ARHGEF2, FGD1
4positive regulation of GTPase activityGO:00435478.8ARHGEF2, FGD1

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

idNameGO IDScoreTop Affiliating Genes
1Rho guanyl-nucleotide exchange factor activityGO:00050899.2ARHGEF2, FGD1
2guanyl-nucleotide exchange factor activityGO:00050859.1ARHGEF2, FGD1

Sources for Unilateral Focal Polymicrogyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet