PMGEDSV
MCID: PLY183
MIFTS: 41

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 56 73 29 6
Polymicrogyria with or Without Vascular-Type Eds 56 73
Pmgedsv 56 73
Polymicrogyria Without Vascular-Type Ehlers-Danlos Syndrome 6
Polymicrogyria 43

Characteristics:

OMIM:

56
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:

31
polymicrogyria with or without vascular-type ehlers-danlos syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 73 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 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and polymicrogyria. 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 delayed speech and language development and motor delay

OMIM : 56 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 324)
# Related Disease Score Top Affiliating Genes
1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.8
2 polymicrogyria 12.8
3 megalencephaly-capillary malformation-polymicrogyria syndrome 12.7
4 polymicrogyria, bilateral frontoparietal 12.7
5 microcephaly, short stature, and polymicrogyria with or without seizures 12.7
6 polymicrogyria, bilateral perisylvian, autosomal recessive 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 unilateral focal polymicrogyria 12.2
19 unilateral hemispheric polymicrogyria 12.2
20 cortical dysplasia, complex, with other brain malformations 8 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 cortical malformations, occipital 11.8
25 congenital intrauterine infection-like syndrome 11.6
26 aicardi syndrome 11.5
27 muscular dystrophy-dystroglycanopathy , type a, 4 11.4
28 neuronal migration disorders 11.4
29 band heterotopia 11.4
30 tukel syndrome 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 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 11.2
36 cebalid syndrome 11.2
37 craniotelencephalic dysplasia 11.1
38 aicardi-goutieres syndrome 1 11.1
39 galloway-mowat syndrome 1 11.1
40 galloway-mowat syndrome 2, x-linked 11.1
41 witteveen-kolk syndrome 11.1
42 cortical dysplasia, complex, with other brain malformations 2 11.1
43 cortical dysplasia, complex, with other brain malformations 6 11.1
44 smith-kingsmore syndrome 11.1
45 peho-like syndrome 11.1
46 galloway-mowat syndrome 3 11.1
47 galloway-mowat syndrome 4 11.1
48 galloway-mowat syndrome 5 11.1
49 galloway-mowat syndrome 6 11.1
50 galloway-mowat syndrome 7 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:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 very rare (1%) HP:0000750
2 motor delay 31 very rare (1%) HP:0001270
3 seizure 31 very rare (1%) HP:0001250
4 smooth philtrum 31 HP:0000319
5 retrognathia 31 HP:0000278
6 micrognathia 31 HP:0000347
7 aortic dissection 31 HP:0002647
8 talipes equinovarus 31 HP:0001762
9 dental crowding 31 HP:0000678
10 abnormality of eye movement 31 HP:0000496
11 long face 31 HP:0000276
12 deeply set eye 31 HP:0000490
13 ventriculomegaly 31 HP:0002119
14 short philtrum 31 HP:0000322
15 varicose veins 31 HP:0002619
16 bruising susceptibility 31 HP:0000978
17 thin vermilion border 31 HP:0000233
18 polymicrogyria 31 HP:0002126
19 cerebellar hypoplasia 31 HP:0001321
20 abnormal heart morphology 31 HP:0001627
21 camptodactyly 31 HP:0012385
22 slender finger 31 HP:0001238
23 hypermetropia 31 HP:0000540
24 long fingers 31 HP:0100807
25 atrophic scars 31 HP:0001075
26 abnormal corpus callosum morphology 31 HP:0001273
27 hypoplasia of the brainstem 31 HP:0002365
28 narrow nasal ridge 31 HP:0000418
29 cerebellar cyst 31 HP:0002350
30 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
smooth philtrum
retrognathia
micrognathia
long face
short philtrum

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

Skeletal Hands:
camptodactyly
long fingers
slender fingers

Cardiovascular Heart:
congenital heart defects
valvular defects

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

Neurologic Central Nervous System:
polymicrogyria
cerebellar hypoplasia
enlarged ventricles
seizures (in some patients)
brainstem hypoplasia
more
Head And Neck Eyes:
hypermetropia
deep-set eyes
eye movement abnormalities

Skeletal Feet:
foot deformities
clubfoot

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 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
4 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
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
7 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626

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

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:

40
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 1067)
# Title Authors PMID Year
1
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. 56 6 61
28742248 2017
2
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. 56 6 61
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. 56 6
28258187 2017
4
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 6 56
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. 6 56
11577371 2001
6
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. 6 56
9050868 1997
7
Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination. 61 56
22235340 2012
8
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction. 61
32240828 2020
9
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. 61
32484994 2020
10
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria. 61
32488097 2020
11
Defining the phenotypical spectrum associated with variants in TUBB2A. 61
32571897 2020
12
Lacosamide-Induced Dyskinesia in Children With Intractable Epilepsy. 61
32524876 2020
13
Developmental Alterations in Cortical Organization and Socialization in Adolescents who Sustained a Traumatic Brain Injury in Early Childhood. 61
32503385 2020
14
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. 61
32135084 2020
15
Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria. 61
32369810 2020
16
Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. 61
32103291 2020
17
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. 61
32446860 2020
18
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. 61
32395406 2020
19
Brain morphological analysis in PTEN hamartoma tumor syndrome. 61
32162846 2020
20
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. 61
32169460 2020
21
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization. 61
32266982 2020
22
The Neuropathology of MIRAGE Syndrome. 61
32106287 2020
23
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings. 61
32281916 2020
24
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. 61
31585183 2020
25
Invasive evaluation in children (SEEG vs subdural grids). 61
30503504 2020
26
A Model of Brain Folding Based on Strong Local and Weak Long-Range Connectivity Requirements. 61
31808811 2020
27
Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant. 61
31704229 2020
28
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. 61
31677917 2020
29
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. 61
31634935 2020
30
Radiological Findings on Structural Magnetic Resonance Imaging in Fetal Alcohol Spectrum Disorders and Healthy Controls. 61
31840819 2020
31
Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: a multicenter study. 61
31917496 2020
32
One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review. 61
31929958 2020
33
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. 61
31729162 2020
34
Inborn errors of metabolism leading to neuronal migration defects. 61
31747049 2020
35
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
36
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly. 61
32117442 2020
37
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 61
31834374 2020
38
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. 61
31735293 2019
39
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 61
31820818 2019
40
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. 61
31710781 2019
41
[Congenital Zika syndrome in Argentina: case series study]. 61
31758900 2019
42
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
31130048 2019
43
Duplication 2p16 is associated with perisylvian polymicrogyria. 61
31660690 2019
44
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. 61
31608932 2019
45
Stereo-EEG ictal/interictal patterns and underlying pathologies. 61
31606703 2019
46
Speech and language in bilateral perisylvian polymicrogyria: a systematic review. 61
30680716 2019
47
Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up. 61
31386962 2019
48
Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum. 61
31617492 2019
49
Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts. 61
29663010 2019
50
Operculoinsular cortectomy for refractory epilepsy. Part 1: Is it effective? 61
31629321 2019

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL3A1 NM_000090.3(COL3A1):c.1282C>T (p.Arg428Ter)SNV Pathogenic 619225 2:189859047-189859047 2:188994321-188994321
2 COL3A1 NM_000090.3(COL3A1):c.2057del (p.Pro686fs)deletion Pathogenic 619226 rs1559058482 2:189864044-189864044 2:188999318-188999318
3 COL3A1 NM_000090.3(COL3A1):c.479dup (p.Lys161fs)duplication Pathogenic 29638 rs397509377 2:189851815-189851816 2:188987089-188987090
4 COL3A1 NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter)SNV Pathogenic 242648 rs587779527 2:189861915-189861915 2:188997189-188997189
5 COL3A1 NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu)SNV Likely pathogenic 242647 rs587779528 2:189874931-189874931 2:189010205-189010205
6 COL3A1 NM_000090.3(COL3A1):c.145C>G (p.Pro49Ala)SNV Likely pathogenic 619227 rs1234344050 2:189849551-189849551 2:188984825-188984825

UniProtKB/Swiss-Prot genetic disease variations for Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 COL3A1 p.Pro49Ala VAR_082043 rs123434405
2 COL3A1 p.Gly1284Glu VAR_082046 rs587779528

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...

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57 OMIM via Orphanet
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72 UMLS via Orphanet
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