PMGEDSV
MCID: PLY183
MIFTS: 39

Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome (PMGEDSV)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

MalaCards integrated aliases for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

Name: Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 57 74 29 6
Polymicrogyria with or Without Vascular-Type Eds 57 74
Pmgedsv 57 74
Polymicrogyria Without Vascular-Type Ehlers-Danlos Syndrome 6
Polymicrogyria 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in early childhood
some patients may have normal development
some patients may not have connective tissue manifestations
early death due to vascular dissection may occur


HPO:

32
polymicrogyria with or without vascular-type ehlers-danlos syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618343
MedGen 42 CN258233

Summaries for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

UniProtKB/Swiss-Prot : 74 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome: An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur.

MalaCards based summary : Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome, also known as polymicrogyria with or without vascular-type eds, is related to polymicrogyria and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1. An important gene associated with Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain). Affiliated tissues include brain, cortex and heart, and related phenotypes are seizures and delayed speech and language development

OMIM : 57 Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017). (618343)

Related Diseases for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Diseases related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 325)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria 12.9
2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.8
3 megalencephaly-capillary malformation-polymicrogyria syndrome 12.7
4 polymicrogyria, bilateral frontoparietal 12.7
5 polymicrogyria, bilateral perisylvian, autosomal recessive 12.7
6 microcephaly, short stature, and polymicrogyria with or without seizures 12.7
7 polymicrogyria, bilateral temporooccipital 12.6
8 polymicrogyria, bilateral perisylvian, x-linked 12.6
9 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
10 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.6
11 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.6
12 bilateral generalized polymicrogyria 12.6
13 bilateral frontal polymicrogyria 12.5
14 unilateral polymicrogyria 12.3
15 pseudo-torch syndrome 1 12.3
16 bilateral polymicrogyria 12.2
17 bilateral parasagittal parieto-occipital polymicrogyria 12.2
18 cortical dysplasia, complex, with other brain malformations 8 12.2
19 unilateral focal polymicrogyria 12.2
20 unilateral hemispheric polymicrogyria 12.2
21 cortical dysplasia, complex, with other brain malformations 7 12.2
22 agyria pachygyria polymicrogyria 12.1
23 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 12.1
24 obsolete: polymicrogyria-turricephaly-hypogenitalism syndrome 12.1
25 cortical malformations, occipital 11.8
26 congenital intrauterine infection-like syndrome 11.6
27 aicardi syndrome 11.5
28 muscular dystrophy-dystroglycanopathy , type a, 4 11.4
29 neuronal migration disorders 11.4
30 band heterotopia 11.4
31 goldberg-shprintzen syndrome 11.4
32 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 11.4
33 cortical dysplasia, complex, with other brain malformations 1 11.2
34 neurodevelopmental disorder with or without variable brain abnormalities 11.2
35 craniotelencephalic dysplasia 11.1
36 aicardi-goutieres syndrome 1 11.1
37 galloway-mowat syndrome 1 11.1
38 galloway-mowat syndrome 2, x-linked 11.1
39 witteveen-kolk syndrome 11.1
40 cortical dysplasia, complex, with other brain malformations 2 11.1
41 cortical dysplasia, complex, with other brain malformations 6 11.1
42 smith-kingsmore syndrome 11.1
43 peho-like syndrome 11.1
44 galloway-mowat syndrome 3 11.1
45 galloway-mowat syndrome 4 11.1
46 galloway-mowat syndrome 5 11.1
47 galloway-mowat syndrome 6 11.1
48 galloway-mowat syndrome 7 11.1
49 galloway-mowat syndrome 8 11.1
50 galloway-mowat syndrome 11.1

Graphical network of the top 20 diseases related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:



Diseases related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Human phenotypes related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 delayed speech and language development 32 very rare (1%) HP:0000750
3 motor delay 32 very rare (1%) HP:0001270
4 abnormality of eye movement 32 HP:0000496
5 smooth philtrum 32 HP:0000319
6 micrognathia 32 HP:0000347
7 short philtrum 32 HP:0000322
8 retrognathia 32 HP:0000278
9 aortic dissection 32 HP:0002647
10 ventriculomegaly 32 HP:0002119
11 talipes equinovarus 32 HP:0001762
12 cerebellar hypoplasia 32 HP:0001321
13 deeply set eye 32 HP:0000490
14 dental crowding 32 HP:0000678
15 long face 32 HP:0000276
16 varicose veins 32 HP:0002619
17 bruising susceptibility 32 HP:0000978
18 slender finger 32 HP:0001238
19 thin vermilion border 32 HP:0000233
20 polymicrogyria 32 HP:0002126
21 long fingers 32 HP:0100807
22 camptodactyly 32 HP:0012385
23 abnormal heart morphology 32 HP:0001627
24 hypermetropia 32 HP:0000540
25 atrophic scars 32 HP:0001075
26 abnormal corpus callosum morphology 32 HP:0001273
27 narrow nasal ridge 32 HP:0000418
28 cerebellar cyst 32 HP:0002350
29 hypoplasia of the brainstem 32 HP:0002365
30 dilatation 32 HP:0002617

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
smooth philtrum
micrognathia
short philtrum
retrognathia
long face

Neurologic Central Nervous System:
cerebellar hypoplasia
polymicrogyria
enlarged ventricles
seizures (in some patients)
brainstem hypoplasia
more
Skeletal Hands:
long fingers
camptodactyly
slender fingers

Skeletal Feet:
clubfoot
foot deformities

Head And Neck Mouth:
thin lips

Head And Neck Nose:
pinched nose

Growth Other:
poor overall growth (in some patients)

Cardiovascular Vascular:
aortic dissection
vascular fragility
aneurysms
vascular dissection

Skin Nails Hair Skin:
varicose veins
atrophic scars
easy bruising
thin translucent skin

Head And Neck Eyes:
hypermetropia
deep-set eyes
eye movement abnormalities

Cardiovascular Heart:
congenital heart defects
valvular defects

Head And Neck Teeth:
crowded teeth

Skeletal:
small joint hypermobility

Clinical features from OMIM:

618343

Drugs & Therapeutics for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Disorders of Cerebral Development: A Phenotypic and Genetic Analysis Recruiting NCT00305305
6 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411

Search NIH Clinical Center for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome

Cochrane evidence based reviews: polymicrogyria

Genetic Tests for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Genetic tests related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 29 COL3A1

Anatomical Context for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

MalaCards organs/tissues related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

41
Brain, Cortex, Heart, Skin, Eye, Fetal Brain, Testes

Publications for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Articles related to Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

(show top 50) (show all 1024)
# Title Authors PMID Year
1
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. 38 8 71
28742248 2017
2
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. 38 8 71
25205403 2015
3
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. 8 71
28258187 2017
4
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 8 71
19455184 2009
5
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. 8 71
11577371 2001
6
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. 8 71
9050868 1997
7
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. 38 8
22235340 2012
8
Stereotactic thermocoagulation for insular epilepsy: Lessons from successes and failures. 38
31206643 2019
9
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 38
31256876 2019
10
Cerebral Corticoarterial Malformations : A Case Series of Unilateral Polymicrogyria and Ipsilateral Arterial Dysplasia. 38
31396655 2019
11
Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up. 38
31386962 2019
12
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. 38
31176596 2019
13
Reelin: Diverse roles in central nervous system development, health and disease. 38
31022460 2019
14
Mouse Strain and Sex-Dependent Differences in Long-term Behavioral Abnormalities and Neuropathologies after Developmental Zika Infection. 38
31085612 2019
15
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. 38
31028281 2019
16
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. 38
30573562 2019
17
Derepression of sonic hedgehog signaling upon Gpr161 deletion unravels forebrain and ventricular abnormalities. 38
30914320 2019
18
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. 38
31056854 2019
19
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. 38
30683929 2019
20
Cortical and Commissural Defects Upon HCF-1 Loss in Nkx2.1-Derived Embryonic Neurons and Glia. 38
31207118 2019
21
Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 38
30794039 2019
22
SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders. 38
31204721 2019
23
Amniotic bands and associated polymicrogyria: In favor of a unique ischemic cause. 38
30955893 2019
24
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 38
31130048 2019
25
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. 38
30982090 2019
26
Cortical malformations and COL4A1 mutation: Three new cases. 38
30837194 2019
27
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 38
30961548 2019
28
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. 38
30879067 2019
29
Metabolic Changes of Brain Developmental Venous Anomalies on 18F-FDG-PET. 38
29960795 2019
30
Electrical cortical stimulation for refractory focal epilepsy: A long-term follow-up study. 38
30731337 2019
31
Prevalence of neuropsychiatric symptoms associated with malformations of cortical development. 38
30731297 2019
32
Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 38
30694355 2019
33
Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia. 38
30539296 2019
34
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. 38
30569621 2019
35
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. 38
30612693 2019
36
Updated Imaging Findings in Congenital Zika Syndrome: A Disease Story That is Still Being Written. 38
30817674 2019
37
De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR. 38
30585108 2019
38
[Phenotypic and neuroimaging differentiation of polymicrogiry in children]. 38
31156216 2019
39
A theory for polymicrogyria and brain arteriovenous malformations in HHT. 38
30584075 2019
40
Sulcal pits and patterns in developing human brains. 38
29601953 2019
41
Speech and language in bilateral perisylvian polymicrogyria: a systematic review. 38
30680716 2019
42
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. 38
29883675 2018
43
PRICKLE1-related early onset epileptic encephalopathy. 38
30345727 2018
44
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 38
30548201 2018
45
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. 38
30121372 2018
46
Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway. 38
29883676 2018
47
Further refinement of COL4A1 and COL4A2 related cortical malformations. 38
30315939 2018
48
Tubulin genes and malformations of cortical development. 38
30016746 2018
49
Long-Term Follow-Up in Children With Focal Cortical Dysplasia IIId for Early Brain Injuries, Including Neuropathological Findings. 38
30473064 2018
50
Neonatal HCMV-related polymicrogyria in seroimmune women: What is the optimal pregnancy management? 38
30316173 2018

Variations for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

ClinVar genetic disease variations for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL3A1 NM_000090.3(COL3A1): c.479dup (p.Lys161fs) duplication Pathogenic rs397509377 2:189851816-189851816 2:188987090-188987090
2 COL3A1 NM_000090.3(COL3A1): c.1282C> T (p.Arg428Ter) single nucleotide variant Pathogenic 2:189859047-189859047 2:188994321-188994321
3 COL3A1 NM_000090.3(COL3A1): c.2057del (p.Pro686fs) deletion Pathogenic 2:189864045-189864045 2:188999319-188999319
4 COL3A1 NM_000090.3(COL3A1): c.145C> G (p.Pro49Ala) single nucleotide variant Pathogenic 2:189849551-189849551 2:188984825-188984825
5 COL3A1 NM_000090.3(COL3A1): c.3851G> A (p.Gly1284Glu) single nucleotide variant Pathogenic rs587779528 2:189874931-189874931 2:189010205-189010205
6 COL3A1 NM_000090.3(COL3A1): c.1786C> T (p.Arg596Ter) single nucleotide variant Pathogenic rs587779527 2:189861915-189861915 2:188997189-188997189

Expression for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Search GEO for disease gene expression data for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome.

Pathways for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

GO Terms for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

Sources for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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