MCID: PRN047
MIFTS: 19

Porencephaly 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Porencephaly 2

MalaCards integrated aliases for Porencephaly 2:

Name: Porencephaly 2 57 75 29 13 6 40 73
Poren2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
incomplete penetrance
two japanese families have been reported (as of february 2012)


HPO:

32
porencephaly 2:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Porencephaly 2

OMIM : 57 Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of porencephaly, see POREN1 (175780). (614483)

MalaCards based summary : Porencephaly 2, is also known as poren2, and has symptoms including hemiplegia, muscle spasticity and seizures. An important gene associated with Porencephaly 2 is COL4A2 (Collagen Type IV Alpha 2 Chain). Affiliated tissues include brain, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 75 Porencephaly 2: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles.

Related Diseases for Porencephaly 2

Symptoms & Phenotypes for Porencephaly 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
intracranial hemorrhage
hemiplegia
porencephaly
more

Clinical features from OMIM:

614483

Human phenotypes related to Porencephaly 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 global developmental delay 32 HP:0001263
4 ventriculomegaly 32 HP:0002119
5 porencephalic cyst 32 HP:0002132
6 intracranial hemorrhage 32 HP:0002170
7 hemiplegia 32 HP:0002301

UMLS symptoms related to Porencephaly 2:


hemiplegia, muscle spasticity, seizures

Drugs & Therapeutics for Porencephaly 2

Search Clinical Trials , NIH Clinical Center for Porencephaly 2

Genetic Tests for Porencephaly 2

Genetic tests related to Porencephaly 2:

# Genetic test Affiliating Genes
1 Porencephaly 2 29 COL4A2

Anatomical Context for Porencephaly 2

MalaCards organs/tissues related to Porencephaly 2:

41
Brain

Publications for Porencephaly 2

Variations for Porencephaly 2

UniProtKB/Swiss-Prot genetic disease variations for Porencephaly 2:

75
# Symbol AA change Variation ID SNP ID
1 COL4A2 p.Gly1037Glu VAR_067837 rs387906603
2 COL4A2 p.Gly1152Asp VAR_067838 rs387906602

ClinVar genetic disease variations for Porencephaly 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A2 NM_001846.3(COL4A2): c.3455G> A (p.Gly1152Asp) single nucleotide variant Pathogenic rs387906602 GRCh37 Chromosome 13, 111144417: 111144417
2 COL4A2 NM_001846.3(COL4A2): c.3455G> A (p.Gly1152Asp) single nucleotide variant Pathogenic rs387906602 GRCh38 Chromosome 13, 110492070: 110492070
3 COL4A2 NM_001846.3(COL4A2): c.3110G> A (p.Gly1037Glu) single nucleotide variant Pathogenic rs387906603 GRCh37 Chromosome 13, 111138086: 111138086
4 COL4A2 NM_001846.3(COL4A2): c.3110G> A (p.Gly1037Glu) single nucleotide variant Pathogenic rs387906603 GRCh38 Chromosome 13, 110485739: 110485739

Expression for Porencephaly 2

Search GEO for disease gene expression data for Porencephaly 2.

Pathways for Porencephaly 2

GO Terms for Porencephaly 2

Sources for Porencephaly 2

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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