MCID: UNL005
MIFTS: 15

Unilateral Polymicrogyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Unilateral Polymicrogyria

Summaries for Unilateral Polymicrogyria

MalaCards based summary : Unilateral Polymicrogyria is related to polymicrogyria and epilepsy. An important gene associated with Unilateral Polymicrogyria is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like). Affiliated tissues include brain and cortex.

Related Diseases for Unilateral Polymicrogyria

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

# Related Disease Score Top Affiliating Genes
1 polymicrogyria 10.4
2 epilepsy 10.2
3 polymicrogyria, bilateral temporooccipital 10.0
4 schizencephaly 9.9
5 hemiplegia 9.9
6 status epilepticus 9.9

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



Diseases related to Unilateral Polymicrogyria

Symptoms & Phenotypes for Unilateral Polymicrogyria

Drugs & Therapeutics for Unilateral Polymicrogyria

Search Clinical Trials , NIH Clinical Center for Unilateral Polymicrogyria

Genetic Tests for Unilateral Polymicrogyria

Genetic tests related to Unilateral Polymicrogyria:

# Genetic test Affiliating Genes
1 Unilateral Polymicrogyria 29

Anatomical Context for Unilateral Polymicrogyria

MalaCards organs/tissues related to Unilateral Polymicrogyria:

41
Brain, Cortex

Publications for Unilateral Polymicrogyria

Articles related to Unilateral Polymicrogyria:

(show all 13)
# Title Authors Year
1
Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria. ( 29954815 )
2018
2
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria. ( 27625015 )
2016
3
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. ( 26094545 )
2015
4
Focal unilateral polymicrogyria and epilepsy surgery. ( 26112139 )
2015
5
Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up. ( 24184770 )
2013
6
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. ( 21931015 )
2012
7
Unilateral polymicrogyria with ipsilateral cerebral hemiatrophy: a distinct syndrome? ( 17307715 )
2007
8
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. ( 16401865 )
2006
9
Morphofunctional organization in three patients with unilateral polymicrogyria: combined use of diffusion tensor imaging and functional magnetic resonance imaging. ( 16503392 )
2006
10
Abnormal primary somatosensory function in unilateral polymicrogyria: an MEG study. ( 15626537 )
2005
11
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. ( 15030902 )
2004
12
Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin. ( 11376999 )
2001
13
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. ( 10403209 )
1999

Variations for Unilateral Polymicrogyria

ClinVar genetic disease variations for Unilateral Polymicrogyria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSDHL NM_015922.2(NSDHL): c.790-5G> T single nucleotide variant Uncertain significance rs377291339 GRCh38 Chromosome X, 152868779: 152868779
2 NSDHL NM_015922.2(NSDHL): c.790-5G> T single nucleotide variant Uncertain significance rs377291339 GRCh37 Chromosome X, 152037323: 152037323

Expression for Unilateral Polymicrogyria

Search GEO for disease gene expression data for Unilateral Polymicrogyria.

Pathways for Unilateral Polymicrogyria

GO Terms for Unilateral Polymicrogyria

Sources for Unilateral Polymicrogyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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