MCID: FML084
MIFTS: 37

Familial Porencephaly

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

Aliases & Classifications for Familial Porencephaly

MalaCards integrated aliases for Familial Porencephaly:

Name: Familial Porencephaly 50 25 56 29
Familial Porencephalic White Matter Disease 50
Autosomal Dominant Porencephaly Type 1 25
Infantile Hemiplegia with Porencephaly 25
Porencephaly, Familial 69
Porencephaly Type 1 25

Characteristics:

Orphanet epidemiological data:

56
familial porencephaly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA99810
UMLS via Orphanet 70 C1867983
MESH via Orphanet 43 C536850
ICD10 via Orphanet 34 Q04.6

Summaries for Familial Porencephaly

Genetics Home Reference : 25 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 porencephaly 1, and has symptoms including hemiplegia, muscle spasticity and seizures. An important gene associated with Familial Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. The drugs Hyaluronic acid and Indapamide 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:

id Related Disease Score Top Affiliating Genes
1 porencephaly 11.2
2 porencephaly 1 10.9
3 hemiplegia 9.7
4 familial stomach cancer 9.6 COL4A1 COL4A2
5 primary pigmented nodular adrenocortical disease 9.6 COL4A1 COL4A2
6 corneal dystrophy, fuchs endothelial, 6 9.5 COL4A1 COL4A2
7 fg syndrome 5 9.5 COL4A1 COL4A2
8 retinal arteries, tortuosity of 9.4 COL4A1 COL4A2
9 acute salpingo-oophoritis 9.2 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:


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

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

26
id 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 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
2
Indapamide Approved Phase 4 26807-65-8 3702
3
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
4 Adjuvants, Immunologic Phase 4
5 Pharmaceutical Solutions Phase 4
6 Protective Agents Phase 4
7 Viscosupplements Phase 4
8 Angiotensin-Converting Enzyme Inhibitors Phase 4
9 Antihypertensive Agents Phase 4
10 diuretics Phase 4
11 HIV Protease Inhibitors Phase 4
12 Natriuretic Agents Phase 4
13
protease inhibitors Phase 4
14 Sodium Chloride Symporter Inhibitors Phase 4
15
Thrombin Approved

Interventional clinical trials:


id 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 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
4 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:

id Genetic test Affiliating Genes
1 Familial Porencephaly 29

Anatomical Context for Familial Porencephaly

MalaCards organs/tissues related to Familial Porencephaly:

39
Brain

Publications for Familial Porencephaly

Articles related to Familial Porencephaly:

id 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
id 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 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 COL4A1 COL4A2
2
Show member pathways
12.27 COL4A1 COL4A2
3
Show member pathways
12.19 COL4A1 COL4A2
4 12.11 COL4A1 COL4A2
5 12.1 COL4A1 COL4A2
6
Show member pathways
12.08 COL4A1 COL4A2
7
Show member pathways
11.67 COL4A1 COL4A2
8
Show member pathways
11.49 COL4A1 COL4A2
9 11.45 COL4A1 COL4A2
10 11.42 COL4A1 COL4A2
11 11.33 COL4A1 COL4A2
12 11.15 COL4A1 COL4A2
13 11.03 COL4A1 COL4A2
14 10.95 COL4A1 COL4A2
15 10.79 COL4A1 COL4A2
16 10.56 COL4A1 COL4A2
17 10.19 COL4A1 COL4A2

GO Terms for Familial Porencephaly

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.37 COL4A1 COL4A2
2 extracellular matrix GO:0031012 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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