MCID: UNL006
MIFTS: 12

Unilateral Focal Polymicrogyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Unilateral Focal Polymicrogyria

MalaCards integrated aliases for Unilateral Focal Polymicrogyria:

Name: Unilateral Focal Polymicrogyria 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
Orphanet 58 ORPHA268947

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:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 29.1 FGD1 ARHGEF2
2 scott syndrome 28.9 FGD1 ARHGEF2
3 polymicrogyria 11.9
4 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0

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:

40
Brain

Publications for Unilateral Focal Polymicrogyria

Articles related to Unilateral Focal Polymicrogyria:

(showing 1, show less)
# Title Authors PMID 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. 61
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:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 FGD1 ARHGEF2

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.16 FGD1 ARHGEF2
2 regulation of small GTPase mediated signal transduction GO:0051056 8.96 FGD1 ARHGEF2
3 regulation of Rho protein signal transduction GO:0035023 8.62 FGD1 ARHGEF2

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

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

Sources for Unilateral Focal Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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