POREN1
MCID: PRN053
MIFTS: 36

Porencephaly 1 (POREN1)

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

Aliases & Classifications for Porencephaly 1

MalaCards integrated aliases for Porencephaly 1:

Name: Porencephaly 1 57 75 29 13 6
Poren1 57 75
Adt1p 57 75
T1p 57 75
Hemiplegia, Infantile, with Porencephaly Porencephaly, Type 1; T1p 57
Hemiplegia, Infantile, with Porencephaly Porencephaly, Type 1 57
Porencephaly, Type 1, Autosomal Dominant; Adt1p 57
Hemiplegia Infantile with Porencephaly Type 1 75
Porencephaly, Type 1, Autosomal Dominant 57
Porencephaly Type 1 Autosomal Dominant 75
Porencephaly, Familial 73
Porencephaly Type 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in childhood
variable severity (mild symptoms to severe handicap)
decreased penetrance
type 1 porencephaly is usually unilateral and results from destructive lesions
type 2 porencephaly is usually symmetrical and results from developmental malformation


HPO:

32
porencephaly 1:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Porencephaly 1

OMIM : 57 Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). (175780)

MalaCards based summary : Porencephaly 1, also known as poren1, is related to familial porencephaly and porencephaly 2, and has symptoms including seizures, abnormal pyramidal signs and hemiplegia. An important gene associated with Porencephaly 1 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 Indapamide have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are hydrocephalus and intellectual disability

UniProtKB/Swiss-Prot : 75 Porencephaly 1: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma.

Related Diseases for Porencephaly 1

Diseases in the Porencephaly family:

Porencephaly 1 Porencephaly 2
Familial Porencephaly Acquired Porencephaly

Diseases related to Porencephaly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial porencephaly 31.8 COL4A1 COL4A2
2 porencephaly 2 11.1
3 porencephaly 9.8 COL4A1 COL4A2
4 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 9.8 COL4A1 COL4A2
5 corneal dystrophy, posterior polymorphous, 3 9.8 COL4A1 COL4A2
6 hemorrhage, intracerebral 9.8 COL4A1 COL4A2
7 hemiplegia 9.7 COL4A1 COL4A2

Graphical network of the top 20 diseases related to Porencephaly 1:



Diseases related to Porencephaly 1

Symptoms & Phenotypes for Porencephaly 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
spasticity
cerebellar atrophy
hemiplegia
more
Head And Neck Eyes:
exotropia
visual field defects

Head And Neck Face:
facial paresis

Hematology:
hemolytic anemia

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

175780

Human phenotypes related to Porencephaly 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 elevated serum creatine phosphokinase 32 HP:0003236
6 hemolytic anemia 32 HP:0001878
7 babinski sign 32 HP:0003487
8 visual field defect 32 HP:0001123
9 cerebellar atrophy 32 HP:0001272
10 hemiplegia 32 HP:0002301
11 cortical dysplasia 32 HP:0002539
12 tetraparesis 32 HP:0002273
13 exotropia 32 HP:0000577
14 facial paralysis 32 HP:0007209
15 limb dystonia 32 HP:0002451
16 leukoencephalopathy 32 HP:0002352
17 ischemic stroke 32 HP:0002140
18 schizencephaly 32 HP:0010636
19 porencephalic cyst 32 HP:0002132

UMLS symptoms related to Porencephaly 1:


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

Drugs & Therapeutics for Porencephaly 1

Drugs for Porencephaly 1 (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 Pharmaceutical Solutions Phase 4,Not Applicable
5 Immunologic Factors Phase 4
6 Protective Agents Phase 4
7 Adjuvants, Immunologic Phase 4
8 Viscosupplements Phase 4
9 Natriuretic Agents Phase 4
10 diuretics Phase 4
11 Sodium Chloride Symporter Inhibitors Phase 4
12 HIV Protease Inhibitors Phase 4
13 Antihypertensive Agents Phase 4
14
protease inhibitors Phase 4
15 Angiotensin-Converting Enzyme Inhibitors Phase 4
16 Hops Approved
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 Feasibility Trial Using Imaging and Biochemical Technologies to Measure Knee Cartilage Composition in Acute ACL Injury Completed NCT02010125
4 Imaging Biomarkers of Knee Osteoarthritis Recruiting NCT02888119 Not Applicable
5 Microfracture Versus Adipose Derived Stem Cells for the Treatment of Articular Cartilage Defects Recruiting NCT02090140 Not Applicable
6 The Effect of Adipose-Derived Stem Cells for Knee Osteoarthritis Recruiting NCT03014401 Not Applicable

Search NIH Clinical Center for Porencephaly 1

Genetic Tests for Porencephaly 1

Genetic tests related to Porencephaly 1:

# Genetic test Affiliating Genes
1 Porencephaly 1 29 COL4A1

Anatomical Context for Porencephaly 1

MalaCards organs/tissues related to Porencephaly 1:

41
Brain

Publications for Porencephaly 1

Variations for Porencephaly 1

UniProtKB/Swiss-Prot genetic disease variations for Porencephaly 1:

75
# Symbol AA change Variation ID SNP ID
1 COL4A1 p.Gly749Ser VAR_030029
2 COL4A1 p.Gly1130Asp VAR_030030 rs113994111
3 COL4A1 p.Gly1236Arg VAR_030031 rs113994112
4 COL4A1 p.Gly1423Arg VAR_030032
5 COL4A1 p.Gly1580Arg VAR_064499 rs113994114

ClinVar genetic disease variations for Porencephaly 1:

6 (show all 20)
# 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.3706G> A (p.Gly1236Arg) single nucleotide variant Pathogenic rs113994112 GRCh38 Chromosome 13, 110170583: 110170583
3 COL4A1 NM_001845.5(COL4A1): c.2245G> A (p.Gly749Ser) single nucleotide variant Pathogenic rs113994109 GRCh37 Chromosome 13, 110831717: 110831717
4 COL4A1 NM_001845.5(COL4A1): c.2245G> A (p.Gly749Ser) single nucleotide variant Pathogenic rs113994109 GRCh38 Chromosome 13, 110179370: 110179370
5 COL4A1 NM_001845.5(COL4A1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs113994103 GRCh37 Chromosome 13, 110959374: 110959374
6 COL4A1 NM_001845.5(COL4A1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs113994103 GRCh38 Chromosome 13, 110307027: 110307027
7 COL4A1 NM_001845.5(COL4A1): c.3389G> A (p.Gly1130Asp) single nucleotide variant Pathogenic rs113994111 GRCh37 Chromosome 13, 110826810: 110826810
8 COL4A1 NM_001845.5(COL4A1): c.3389G> A (p.Gly1130Asp) single nucleotide variant Pathogenic rs113994111 GRCh38 Chromosome 13, 110174463: 110174463
9 COL4A1 NM_001845.5(COL4A1): c.4267G> C (p.Gly1423Arg) single nucleotide variant Pathogenic rs113994113 GRCh37 Chromosome 13, 110814772: 110814772
10 COL4A1 NM_001845.5(COL4A1): c.4267G> C (p.Gly1423Arg) single nucleotide variant Pathogenic rs113994113 GRCh38 Chromosome 13, 110162425: 110162425
11 COL4A1 NM_001845.5(COL4A1): c.4738G> C (p.Gly1580Arg) single nucleotide variant Pathogenic rs113994114 GRCh37 Chromosome 13, 110807647: 110807647
12 COL4A1 NM_001845.5(COL4A1): c.4738G> C (p.Gly1580Arg) single nucleotide variant Pathogenic rs113994114 GRCh38 Chromosome 13, 110155300: 110155300
13 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh37 Chromosome 13, 110830243: 110830243
14 COL4A1 NM_001845.5(COL4A1): c.2662G> A (p.Gly888Arg) single nucleotide variant Likely pathogenic rs797045034 GRCh38 Chromosome 13, 110177896: 110177896
15 COL4A1 NM_001845.5(COL4A1): c.2078G> A (p.Gly693Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 13, 110835357: 110835357
16 COL4A1 NM_001845.5(COL4A1): c.2078G> A (p.Gly693Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 110183010: 110183010
17 COL4A1 NM_001845.5(COL4A1): c.3353G> A (p.Gly1118Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 110826846: 110826846
18 COL4A1 NM_001845.5(COL4A1): c.3353G> A (p.Gly1118Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 110174499: 110174499
19 COL4A1 NM_001845.5(COL4A1): c.2075C> G (p.Pro692Arg) single nucleotide variant not provided GRCh37 Chromosome 13, 110835360: 110835360
20 COL4A1 NM_001845.5(COL4A1): c.2075C> G (p.Pro692Arg) single nucleotide variant not provided GRCh38 Chromosome 13, 110183013: 110183013

Expression for Porencephaly 1

Search GEO for disease gene expression data for Porencephaly 1.

Pathways for Porencephaly 1

Pathways related to Porencephaly 1 according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 COL4A1 COL4A2
2
Show member pathways
12.34 COL4A1 COL4A2
3
Show member pathways
12.27 COL4A1 COL4A2
4 12.26 COL4A1 COL4A2
5
Show member pathways
12.18 COL4A1 COL4A2
6
Show member pathways
12.07 COL4A1 COL4A2
7
Show member pathways
11.67 COL4A1 COL4A2
8
Show member pathways
11.67 COL4A1 COL4A2
9
Show member pathways
11.49 COL4A1 COL4A2
10 11.45 COL4A1 COL4A2
11 11.42 COL4A1 COL4A2
12 11.37 COL4A1 COL4A2
13 11.15 COL4A1 COL4A2
14 11.03 COL4A1 COL4A2
15 10.95 COL4A1 COL4A2
16 10.79 COL4A1 COL4A2
17 10.56 COL4A1 COL4A2
18 10.46 COL4A1 COL4A2
19 10.19 COL4A1 COL4A2

GO Terms for Porencephaly 1

Cellular components related to Porencephaly 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.37 COL4A1 COL4A2
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A1 COL4A2
3 collagen-containing extracellular matrix GO:0062023 9.26 COL4A1 COL4A2
4 basement membrane GO:0005604 9.16 COL4A1 COL4A2
5 collagen trimer GO:0005581 8.96 COL4A1 COL4A2
6 collagen type IV trimer GO:0005587 8.62 COL4A1 COL4A2

Biological processes related to Porencephaly 1 according to GeneCards Suite gene sharing:

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

Molecular functions related to Porencephaly 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A1 COL4A2
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A1 COL4A2

Sources for Porencephaly 1

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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