MCID: UNL005
MIFTS: 27

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 with or without vascular-type ehlers-danlos syndrome and polymicrogyria. An important gene associated with Unilateral Polymicrogyria is NR2F1 (Nuclear Receptor Subfamily 2 Group F Member 1). Affiliated tissues include brain, heart and cortex, and related phenotypes are spastic tetraplegia and hemiparesis

Related Diseases for Unilateral Polymicrogyria

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



Diseases related to Unilateral Polymicrogyria

Symptoms & Phenotypes for Unilateral Polymicrogyria

Human phenotypes related to Unilateral Polymicrogyria:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002510
2 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
3 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
4 pseudobulbar paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0007024
5 cortical dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002539
6 generalized tonic seizure 31 frequent (33%) HP:0010818
7 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
8 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
9 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
10 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
11 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
12 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
13 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
14 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
15 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
16 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
17 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
18 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
19 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
20 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
21 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
22 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
23 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
24 abnormal posturing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002533
25 perisylvian polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012650
26 giant somatosensory evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0001312
27 pulmonary arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0006548
28 infantile sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008610
29 appendicular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012389
30 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
31 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
32 bimanual synkinesia 58 31 very rare (1%) Very rare (<4-1%) HP:0001335
33 nasogastric tube feeding 58 31 very rare (1%) Very rare (<4-1%) HP:0040288
34 intellectual disability 58 Frequent (79-30%)
35 seizures 58 Frequent (79-30%)
36 involuntary movements 58 Occasional (29-5%)
37 generalized tonic seizures 58 Frequent (79-30%)
38 focal seizures, afebril 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Unilateral Polymicrogyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 NR2F1 NSDHL

Drugs & Therapeutics for Unilateral Polymicrogyria

Search Clinical Trials , NIH Clinical Center for Unilateral Polymicrogyria

Genetic Tests for Unilateral Polymicrogyria

Anatomical Context for Unilateral Polymicrogyria

MalaCards organs/tissues related to Unilateral Polymicrogyria:

40
Brain, Heart, Cortex, Pineal

Publications for Unilateral Polymicrogyria

Articles related to Unilateral Polymicrogyria:

(show all 30)
# Title Authors PMID Year
1
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 61
33229101 2021
2
Ganglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases. 61
33707279 2021
3
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay. 61
32979071 2020
4
Unilateral polymicrogyria, hemispheric atrophy and spastic hemiparesis: rare etiologies for a common condition. 61
33151517 2020
5
Cerebral Corticoarterial Malformations : A Case Series of Unilateral Polymicrogyria and Ipsilateral Arterial Dysplasia. 61
31396655 2020
6
Assessing Corticospinal Tract Asymmetry in Unilateral Polymicrogyria. 61
29954815 2018
7
Focal unilateral polymicrogyria and epilepsy surgery. 61
26112139 2017
8
The Role of Diffusion-Weighted Imaging in the Evaluation of the Whole Brain in Isolated Unilateral Polymicrogyria. 61
27625015 2016
9
Epileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients. 61
26803282 2016
10
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex. 61
26094545 2015
11
Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up. 61
24184770 2013
12
Encephalopathy with hemi-status epilepticus during sleep or hemi-continuous spikes and waves during slow sleep syndrome: a study of 21 patients. 61
23642405 2013
13
[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature]. 61
22972573 2012
14
Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES). 61
22509732 2012
15
Polymicrogyria: correlation of magnetic resonance imaging and clinical findings. 61
22286201 2012
16
Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. 61
21931015 2012
17
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 61
19770472 2009
18
Mild cognitive deficits associated to neocortical microgyria in mice with genetic deletion of cellular prion protein. 61
18840415 2008
19
Electroencephalogram in unilateral multilobar polymicrogyria with nonconvulsive status epilepticus. 61
17625937 2008
20
Unilateral polymicrogyria with ipsilateral cerebral hemiatrophy: a distinct syndrome? 61
17307715 2007
21
Morphofunctional organization in three patients with unilateral polymicrogyria: combined use of diffusion tensor imaging and functional magnetic resonance imaging. 61
16503392 2006
22
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. 61
16401865 2006
23
Source analysis of interictal spikes in polymicrogyria: loss of relevant cortical fissures requires simultaneous EEG to avoid MEG misinterpretation. 61
15850741 2005
24
Abnormal primary somatosensory function in unilateral polymicrogyria: an MEG study. 61
15626537 2005
25
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. 61
15030902 2004
26
Polymicrogyria and absence of pineal gland due to PAX6 mutation. 61
12731001 2003
27
Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin. 61
11376999 2001
28
A particular type of epilepsy in children with congenital hemiparesis associated with unilateral polymicrogyria. 61
10403209 1999
29
Late-onset epilepsy associated with regional brain cortical dysplasia. 61
10394042 1999
30
[A particular type of epilepsy in patients with congenital hemiparesis associated with polymicrogyria or unilateral pachygyria]. 61
9280633 1997

Variations for Unilateral Polymicrogyria

ClinVar genetic disease variations for Unilateral Polymicrogyria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSDHL NM_015922.3(NSDHL):c.790-5G>T SNV Uncertain significance 523516 rs377291339 GRCh37: X:152037323-152037323
GRCh38: X:152868779-152868779
2 NR2F1 NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) SNV Uncertain significance 599002 rs1561523716 GRCh37: 5:92920994-92920994
GRCh38: 5:93585288-93585288

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....