MCID: FML084
MIFTS: 37

Familial Porencephaly

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

Aliases & Classifications for Familial Porencephaly

MalaCards integrated aliases for Familial Porencephaly:

Name: Familial Porencephaly 49 24 55 28
Familial Porencephalic White Matter Disease 49
Autosomal Dominant Porencephaly Type 1 24
Infantile Hemiplegia with Porencephaly 24
Porencephaly, Familial 69
Porencephaly Type 1 24

Characteristics:

Orphanet epidemiological data:

55
familial porencephaly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA99810
UMLS via Orphanet 70 C1867983
MESH via Orphanet 42 C536850
ICD10 via Orphanet 33 Q04.6

Summaries for Familial Porencephaly

Genetics Home Reference : 24 Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).

MalaCards based summary : Familial Porencephaly, also known as familial porencephalic white matter disease, is related to porencephaly and hemiplegia, and has symptoms including dystonia, limb, facial paresis and quadriparesis. An important gene associated with Familial Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. The drugs Hyaluronic acid and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

Related Diseases for Familial Porencephaly

Diseases in the Porencephaly family:

Porencephaly 1 Porencephaly 2
Familial Porencephaly Acquired Porencephaly

Diseases related to Familial Porencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porencephaly 31.4 COL4A1 COL4A2
2 hemiplegia 28.6 COL4A1 COL4A2
3 porencephaly 1 11.9
4 corneal dystrophy, posterior polymorphous, 3 9.6 COL4A1 COL4A2
5 hemorrhage, intracerebral 9.5 COL4A1 COL4A2

Graphical network of the top 20 diseases related to Familial Porencephaly:



Diseases related to Familial Porencephaly

Symptoms & Phenotypes for Familial Porencephaly

UMLS symptoms related to Familial Porencephaly:


dystonia, limb, facial paresis, quadriparesis, abnormal pyramidal signs, seizures, muscle spasticity, hemiplegia

GenomeRNAi Phenotypes related to Familial Porencephaly according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 COL4A1 COL4A2

Drugs & Therapeutics for Familial Porencephaly

Drugs for Familial Porencephaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
2
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
3
Indapamide Approved Phase 4 26807-65-8 3702
4 diuretics Phase 4
5
protease inhibitors Phase 4
6 Adjuvants, Immunologic Phase 4
7 Sodium Chloride Symporter Inhibitors Phase 4
8 Natriuretic Agents Phase 4
9 HIV Protease Inhibitors Phase 4
10 Viscosupplements Phase 4
11 Angiotensin-Converting Enzyme Inhibitors Phase 4
12 Pharmaceutical Solutions Phase 4
13 Antihypertensive Agents Phase 4
14 Protective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 To Look at the Characteristics of Synovial Fluid and Cartilage Matrix in Osteoarthritic Knee After Hyaluronic Acid Injection Completed NCT01895959 Phase 4 Euflexxa
2 IDEAL Study: Identification of the Determinants of the Efficacy of Arterial Blood Pressure Lowering Drugs Completed NCT00128518 Phase 4 Indapamide (T2);Perindopril (T1);Placebo of Perindopril (P1);Placebo of Indapamide (P2)
3 Imaging Biomarkers of Knee Osteoarthritis Recruiting NCT02888119

Search NIH Clinical Center for Familial Porencephaly

Genetic Tests for Familial Porencephaly

Genetic tests related to Familial Porencephaly:

# Genetic test Affiliating Genes
1 Familial Porencephaly 28

Anatomical Context for Familial Porencephaly

MalaCards organs/tissues related to Familial Porencephaly:

38
Brain

Publications for Familial Porencephaly

Articles related to Familial Porencephaly:

# Title Authors Year
1
COL4A2 mutation associated with familial porencephaly and small- vessel disease. ( 22333902 )
2012
2
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. ( 12244556 )
2002
3
Familial porencephaly. ( 8253500 )
1993
4
Familial porencephaly. ( 2282721 )
1990
5
Familial porencephaly and congenital hemiplegia. ( 3761085 )
1986
6
Familial porencephaly. ( 6615288 )
1983

Variations for Familial Porencephaly

ClinVar genetic disease variations for Familial Porencephaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.5(COL4A1): c.3706G> A (p.Gly1236Arg) single nucleotide variant Pathogenic rs113994112 GRCh37 Chromosome 13, 110822930: 110822930
2 COL4A1 NM_001845.5(COL4A1): c.2245G> A (p.Gly749Ser) single nucleotide variant Pathogenic rs113994109 GRCh37 Chromosome 13, 110831717: 110831717
3 COL4A1 NM_001845.5(COL4A1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs113994103 GRCh37 Chromosome 13, 110959374: 110959374
4 COL4A1 NM_001845.5(COL4A1): c.3389G> A (p.Gly1130Asp) single nucleotide variant Pathogenic rs113994111 GRCh37 Chromosome 13, 110826810: 110826810
5 COL4A1 NM_001845.5(COL4A1): c.4267G> C (p.Gly1423Arg) single nucleotide variant Pathogenic rs113994113 GRCh37 Chromosome 13, 110814772: 110814772
6 COL4A1 NM_001845.5(COL4A1): c.4738G> C (p.Gly1580Arg) single nucleotide variant Pathogenic rs113994114 GRCh37 Chromosome 13, 110807647: 110807647

Expression for Familial Porencephaly

Search GEO for disease gene expression data for Familial Porencephaly.

Pathways for Familial Porencephaly

Pathways related to Familial Porencephaly according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 COL4A1 COL4A2
2
Show member pathways
12.35 COL4A1 COL4A2
3 12.29 COL4A1 COL4A2
4
Show member pathways
12.28 COL4A1 COL4A2
5
Show member pathways
12.19 COL4A1 COL4A2
6
Show member pathways
12.08 COL4A1 COL4A2
7
Show member pathways
12.03 COL4A1 COL4A2
8
Show member pathways
11.67 COL4A1 COL4A2
9
Show member pathways
11.65 COL4A1 COL4A2
10
Show member pathways
11.49 COL4A1 COL4A2
11 11.45 COL4A1 COL4A2
12 11.42 COL4A1 COL4A2
13 11.37 COL4A1 COL4A2
14 11.15 COL4A1 COL4A2
15 11.03 COL4A1 COL4A2
16 10.95 COL4A1 COL4A2
17 10.79 COL4A1 COL4A2
18 10.56 COL4A1 COL4A2
19 10.48 COL4A1 COL4A2
20 10.19 COL4A1 COL4A2

GO Terms for Familial Porencephaly

Cellular components related to Familial Porencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.37 COL4A1 COL4A2
2 proteinaceous extracellular matrix GO:0005578 9.32 COL4A1 COL4A2
3 endoplasmic reticulum lumen GO:0005788 9.26 COL4A1 COL4A2
4 collagen trimer GO:0005581 9.16 COL4A1 COL4A2
5 basement membrane GO:0005604 8.96 COL4A1 COL4A2
6 collagen type IV trimer GO:0005587 8.62 COL4A1 COL4A2

Biological processes related to Familial Porencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL4A1 COL4A2
2 collagen catabolic process GO:0030574 8.96 COL4A1 COL4A2
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A1 COL4A2

Molecular functions related to Familial Porencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A1 COL4A2

Sources for Familial Porencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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