MCID: PLY183
MIFTS: 15

Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome

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 58 6
Polymicrogyria Without Vascular-Type Ehlers-Danlos Syndrome 6
Polymicrogyria with or Without Vascular-Type Eds 58
Pmgedsv 58

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618343

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

OMIM : 58 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)

MalaCards based summary : Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome, is also known as polymicrogyria without vascular-type ehlers-danlos syndrome. 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, eye and skin.

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
smooth philtrum
micrognathia
retrognathia
short philtrum
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...

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

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

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:

42
Brain, Eye, Skin, Heart, Cortex

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

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 Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.479dupT (p.Lys161Glnfs) duplication Pathogenic rs397509377 GRCh37 Chromosome 2, 189851816: 189851816
2 COL3A1 NM_000090.3(COL3A1): c.479dupT (p.Lys161Glnfs) duplication Pathogenic rs397509377 GRCh38 Chromosome 2, 188987090: 188987090
3 COL3A1 COL3A1, ARG596TER undetermined variant Pathogenic
4 COL3A1 COL3A1, GLY1284GLU undetermined variant Pathogenic
5 COL3A1 LRG_3t1: c.1281C> T single nucleotide variant Pathogenic
6 COL3A1 NM_000090.3(COL3A1): c.2057delC (p.Pro686Leufs) deletion Pathogenic GRCh38 Chromosome 2, 188999319: 188999319
7 COL3A1 NM_000090.3(COL3A1): c.2057delC (p.Pro686Leufs) deletion Pathogenic GRCh37 Chromosome 2, 189864045: 189864045
8 COL3A1 NM_000090.3(COL3A1): c.145C> G (p.Pro49Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 188984825: 188984825
9 COL3A1 NM_000090.3(COL3A1): c.145C> G (p.Pro49Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 189849551: 189849551

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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