MCID: FML084
MIFTS: 36

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 53 25 59 29
Familial Porencephalic White Matter Disease 53
Autosomal Dominant Porencephaly Type 1 25
Infantile Hemiplegia with Porencephaly 25
Porencephaly, Familial 73
Porencephaly Type 1 25

Characteristics:

Orphanet epidemiological data:

59
familial porencephaly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA99810
MESH via Orphanet 45 C536850
UMLS via Orphanet 74 C1867983
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 COL4A2 (Collagen Type IV Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Circadian entrainment. The drugs Hyaluronic acid and Indapamide have been mentioned in the context of this disorder. Affiliated tissues include brain.

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 31.1 COL4A1 COL4A2
2 porencephaly 1 31.0 COL4A1 COL4A2
3 hemiplegia 28.1 COL4A1 COL4A2
4 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 9.5 COL4A1 COL4A2
5 corneal dystrophy, posterior polymorphous, 3 9.3 COL4A1 COL4A2
6 hemorrhage, intracerebral 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

Drugs & Therapeutics for Familial Porencephaly

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2
Indapamide Approved Phase 4 26807-65-8 3702
3
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
4 diuretics Phase 4
5
protease inhibitors Phase 4
6 Adjuvants, Immunologic Phase 4
7 Natriuretic Agents Phase 4
8 Sodium Chloride Symporter Inhibitors Phase 4
9 HIV Protease Inhibitors Phase 4
10 Angiotensin-Converting Enzyme Inhibitors Phase 4
11 Viscosupplements Phase 4
12 Pharmaceutical Solutions Phase 4,Not Applicable
13 Antihypertensive Agents Phase 4
14 Protective Agents Phase 4
15
Menthol Approved Not Applicable 2216-51-5 16666
16 Hops Approved, Nutraceutical
17 Fibrin Tissue Adhesive Not Applicable

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 Not Applicable
4 Microfracture Versus Adipose Derived Stem Cells for the Treatment of Articular Cartilage Defects Recruiting NCT02090140 Not Applicable
5 The Effect of Adipose-Derived Stem Cells for Knee Osteoarthritis Recruiting NCT03014401 Not Applicable
6 Feasibility Trial Using Imaging and Biochemical Technologies to Measure Knee Cartilage Composition in Acute ACL Injury Active, not recruiting NCT02010125

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 29

Anatomical Context for Familial Porencephaly

MalaCards organs/tissues related to Familial Porencephaly:

41
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

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 COL4A1 COL4A2
2
Show member pathways
12.45 COL4A1 COL4A2
3
Show member pathways
12.39 COL4A1 COL4A2
4
Show member pathways
12.32 COL4A1 COL4A2
5
Show member pathways
12.27 COL4A1 COL4A2
6 12.26 COL4A1 COL4A2
7
Show member pathways
12.18 COL4A1 COL4A2
8
Show member pathways
12.07 COL4A1 COL4A2
9
Show member pathways
11.67 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 10.19 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 endoplasmic reticulum lumen GO:0005788 9.32 COL4A1 COL4A2
2 extracellular matrix GO:0031012 9.26 COL4A1 COL4A2
3 collagen trimer GO:0005581 9.16 COL4A1 COL4A2
4 basement membrane GO:0005604 8.96 COL4A1 COL4A2
5 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
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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