MCID: PRN026
MIFTS: 49

Porencephaly

Categories: Blood diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Porencephaly

MalaCards integrated aliases for Porencephaly:

Name: Porencephaly 11 19 52 58 75 53 5 43 14 33

Characteristics:


Inheritance:

Multigenic/multifactorial 58

Prevelance:

1-9/100000 (United States, Japan) 58

Age Of Onset:

Antenatal,Infancy,Neonatal 58

Age Of Death:

any age 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060263
MeSH 43 D065708
ICD10 31 Q04.6
ICD10 via Orphanet 32 Q04.6
UMLS via Orphanet 72 C0302892
Orphanet 58 ORPHA2940
ICD11 33 137059367
UMLS 71 C0302892 C1867983 C3698507

Summaries for Porencephaly

GARD: 19 Porencephaly is a rare condition that affects the central nervous system. People with Porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial Porencephaly, which is caused by changes in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner.

MalaCards based summary: Porencephaly is related to familial porencephaly and brain small vessel disease 2. An important gene associated with Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and fetal brain, and related phenotypes are spasticity and ventriculomegaly

NINDS: 52 Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain.  It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common).  Diagnosis is usually made before an infant reaches his or her first birthday.  Symptoms of porencephaly include delayed growth and development, spastic hemiplegia (slight or incomplete paralysis), hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening of the muscles), and cognitive impairment.

Orphanet: 58 A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.

Disease Ontology: 11 A brain disease that is characterized by encephalomalacia and cystic brain lesions.

Wikipedia: 75 Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological... more...

Related Diseases for Porencephaly

Diseases in the Porencephaly family:

Familial Porencephaly Acquired Porencephaly

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

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 familial porencephaly 33.1 COL4A2 COL4A1
2 brain small vessel disease 2 32.7 COLGALT1 COL4A2 COL4A1
3 brain small vessel disease 3 32.0 COLGALT1 COL4A2 COL4A1
4 neuronal migration disorders 31.6 WDR62 TUBA1A
5 spastic hemiplegia 30.6 COL4A2 COL4A1
6 schizencephaly 30.5 WDR62 EMX2 COL4A1
7 cerebral degeneration 30.0 NOTCH3 CRYAA COL4A1
8 spastic cerebral palsy 30.0 TUBA1A COL4A2 COL4A1
9 polymicrogyria 29.9 WDR62 TUBA1A OFD1 EMX2 ADGRG1
10 lissencephaly 29.8 WDR62 TUBA1A OFD1 ADGRG1
11 tubulinopathy 29.8 WDR62 TUBA1A ADGRG1
12 retinal arteries, tortuosity of 29.5 NOTCH3 COL4A4 COL4A3 COL4A2 COL4A1
13 cataract 29.3 CRYGA CRYBA4 CRYAA COL4A4 COL4A3 COL4A1
14 brain small vessel disease 29.1 NOTCH3 CRYAA COLGALT1 COL4A6 COL4A4 COL4A2
15 brain small vessel disease 1 with or without ocular anomalies 11.7
16 porencephaly, cerebellar hypoplasia, and internal malformations 11.6
17 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.4
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
19 hydranencephaly 11.0
20 acquired porencephaly 11.0
21 coloboma porencephaly hydronephrosis 10.9
22 oculocerebrocutaneous syndrome 10.9
23 hydrocephalus 10.4
24 aortic valve prolapse 10.3 COL4A2 COL4A1
25 immature cataract 10.3 CRYAA COL4A4
26 x-linked alport syndrome-diffuse leiomyomatosis 10.2 COL4A6 COL4A5
27 hemiplegia 10.2
28 bilateral frontal polymicrogyria 10.2 EMX2 ADGRG1
29 alport syndrome 2, autosomal recessive 10.2 COL4A4 COL4A3
30 nail disorder, nonsyndromic congenital, 8 10.2 COL4A6 COL4A4
31 col4a1-related disorders 10.2
32 bilateral generalized polymicrogyria 10.2 WDR62 ADGRG1
33 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A4 COL4A3
34 deafness, x-linked 4 10.2 COL4A6 COL4A5
35 bethlem myopathy 1 10.2 HSPG2 CRYAA COL4A2
36 irregular astigmatism 10.2 COL4A4 COL4A3
37 alport syndrome 3, autosomal dominant 10.2 COL4A5 COL4A4 COL4A3
38 anti-basement membrane glomerulonephritis 10.2 COL4A5 COL4A4 COL4A3
39 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 10.2 NOTCH3 COL4A2 COL4A1
40 papillorenal syndrome 10.2 CRYAA COL4A4 COL4A3
41 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
42 cerebral palsy 10.1
43 3-methylcrotonyl-coa carboxylase 2 deficiency 10.1 COL4A5 COL4A4 COL4A3
44 autoimmune disease of urogenital tract 10.1 COL4A5 COL4A4 COL4A3
45 colon leiomyoma 10.1 COL4A6 COL4A5
46 early-onset lamellar cataract 10.1 CRYBA4 CRYAA
47 cataract microcornea syndrome 10.1 CRYBA4 CRYAA
48 nail-patella syndrome 10.1 COL4A5 COL4A4 COL4A3
49 auditory system disease 10.1 COL4A5 COL4A4 COL4A3
50 ullrich congenital muscular dystrophy 1 10.1 HSPG2 CRYAA COL4A2 COL4A1

Graphical network of the top 20 diseases related to Porencephaly:



Diseases related to Porencephaly

Symptoms & Phenotypes for Porencephaly

Human phenotypes related to Porencephaly:

58 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001257
2 ventriculomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002119
3 porencephalic cyst 30 Hallmark (90%) HP:0002132
4 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
5 hemiplegia/hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004374
6 cerebral palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0100021
7 seizure 30 Frequent (33%) HP:0001250
8 seizures 58 Frequent (79-30%)
9 abnormality of movement 58 Very frequent (99-80%)
10 porencephaly 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Porencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.21 ADGRG1 AGRN COL4A1 COL4A2 COLGALT1 EMX2
2 growth/size/body region MP:0005378 10.13 AGRN COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
3 cellular MP:0005384 10.07 ADGRG1 COL4A1 COL4A3 COLGALT1 CRYAA EMX2
4 renal/urinary system MP:0005367 10.06 AGRN COL4A1 COL4A3 COL4A4 COL4A5 EMX2
5 cardiovascular system MP:0005385 9.93 AGRN COL4A1 COL4A2 COL4A3 COL4A5 COLGALT1
6 hearing/vestibular/ear MP:0005377 9.85 COL4A2 COL4A3 COL4A4 EMX2 HSPG2 NOTCH3
7 respiratory system MP:0005388 9.5 AGRN COL4A1 COL4A2 EMX2 HSPG2 NOTCH3
8 vision/eye MP:0005391 9.44 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COLGALT1

Drugs & Therapeutics for Porencephaly

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Abnormal Acquired and Genetic Coagulation Factors in Children With Porencephaly and Stroke Completed NCT00001927
2 Deciphering, Construction and Validation of Magnetic Resonance Imaging Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases Recruiting NCT05473637

Search NIH Clinical Center for Porencephaly

Cochrane evidence based reviews: porencephaly

Genetic Tests for Porencephaly

Anatomical Context for Porencephaly

Organs/tissues related to Porencephaly:

MalaCards : Brain, Temporal Lobe, Fetal Brain, Fetal Liver, Heart, Thalamus, Cortex

Publications for Porencephaly

Articles related to Porencephaly:

(show top 50) (show all 574)
# Title Authors PMID Year
1
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 53 62
19194877 2009
2
[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. 53 62
19238787 2008
3
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 53 62
17379824 2007
4
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly. 62
33292033 2022
5
Post-traumatic cysts detected by ultrasound in infant presented with first-time seizures: Case report. 62
36111183 2022
6
Schizencephaly in Hereditary Hemorrhagic Telangiectasia. 62
36265891 2022
7
Porencephaly causing limb size asymmetry. 62
33728580 2022
8
Pseudo-porencephaly With Structural Epilepsy After Perinatal Intracerebral Bleeding. 62
35864714 2022
9
Psychosis Associated with Acquired Porencephaly-Cause or Incidental Finding? Case Report and Review of Literature. 62
35630003 2022
10
Expression of Concern: A Giant Porencephaly: A Rare Etiology of Pediatric Seizures. 62
35463569 2022
11
Polysulfone tailor-made implant for the surgical correction of a frontoparietal meningoencephalocoele in a cat. 62
35693478 2022
12
Porencephaly with an optic organ abnormality in a beagle dog. 62
35221503 2022
13
Case report: Temporal alterations in vascular function during the first 2 weeks of pediatric septic shock. 62
35935367 2022
14
Pseudo-porencephaly Mimicking Multiple Intracerebral Hemorrhages. 62
34148964 2021
15
Progressive cerebral atrophies in three children with COL4A1 mutations. 62
34281745 2021
16
A Giant Porencephaly: A Rare Etiology of Pediatric Seizures. 62
34926080 2021
17
Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly. 62
33846711 2021
18
The spectrum of brain malformations and disruptions in twins. 62
33205886 2021
19
Prenatal clinical manifestations in individuals with COL4A1/2 variants. 62
32732225 2021
20
Edge-to-edge repair of the systolic anterior motion of mitral valve and cardiac myectomy of the abnormally positioned papillary muscles in an infant with COL4A1 mutation. 62
34194724 2021
21
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions. 62
32515830 2021
22
Surgical strategy for refractory epilepsy secondary to porencephaly: ictal SPECT may obviate the need for intracranial electroencephalography. Patient series. 62
35854864 2021
23
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. 62
33709034 2021
24
Case Report: Complex Congenital Brain Anomaly in a BBxHF Calf-Clinical Signs, Magnetic Resonance Imaging, and Pathological Findings. 62
34631846 2021
25
Novel COL4A2 mutation causing familial malformations of cortical development. 62
33577044 2021
26
Neuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood. 62
33136527 2020
27
"I Do not know them" - Capgras syndrome associated with porencephaly and agenesis of the Splenium. 62
32653846 2020
28
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. 62
33298904 2020
29
Porencephaly and Intracranial Calcifications in a Neonate. 62
33004666 2020
30
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation. 62
32706613 2020
31
Phenotypic characterization of COL4A1-related West syndrome. 62
32446163 2020
32
Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report. 62
32756128 2020
33
Risk factors and results of hemispherotomy reoperations in children. 62
32234979 2020
34
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report. 62
31808207 2020
35
Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES). 62
32043470 2020
36
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia. 62
33013618 2020
37
Life-threatening muscle complications of COL4A1-related disorder. 62
31540749 2020
38
Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures. 62
31762865 2020
39
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. 62
32040484 2020
40
COL4A1 MUTATIONS IN TWO INFANTS WITH CONGENITAL CATARACTS AND PORENCEPHALY: AN OPHTHALMOLOGIC PERSPECTIVE. 62
31525464 2019
41
A case of left congenital homonymous hemianopia associated with right occipital porencephaly. 62
31564367 2019
42
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 62
31230195 2019
43
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 62
31966034 2019
44
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program. 62
31331924 2019
45
COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. 62
31128271 2019
46
Asymmetry of the bilateral bispectral index in a hemiparetic patient with porencephaly. 62
30594096 2019
47
Collagen glycosylation. 62
30822656 2019
48
Porencephaly and Periventricular Encephalitis in a 4-month-old Puppy: Detection of Canine Parvovirus Type 2 and Potential Role in Brain Lesions. 62
31159946 2019
49
Increased Susceptibility to Postoperative PCA Morphine-Induced Respiratory Depression in a Patient with an Undiagnosed Traumatic Porencephalic Cyst - A Case Report. 62
31161144 2019
50
Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain. 62
31507194 2019

Variations for Porencephaly

ClinVar genetic disease variations for Porencephaly:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.3245G>T (p.Gly1082Val) SNV Pathogenic
1172657 GRCh37: 13:110827050-110827050
GRCh38: 13:110174703-110174703

Expression for Porencephaly

Search GEO for disease gene expression data for Porencephaly.

Pathways for Porencephaly

Pathways related to Porencephaly according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 NOTCH3 HSPG2 COL4A6 COL4A5 COL4A4 COL4A3
2
Show member pathways
13.28 HSPG2 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
3
Show member pathways
12.99 HSPG2 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4
Show member pathways
12.89 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5
Show member pathways
12.84 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6
Show member pathways
12.74 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
7 12.71 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 12.63 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
9
Show member pathways
12.51 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10
Show member pathways
12.34 NID2 NID1 HSPG2 COLGALT1 COL4A6 COL4A5
11 12.17 COL4A6 COL4A4 COL4A2 COL4A1
12 12.12 NOTCH3 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
13
Show member pathways
12.08 HSPG2 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
14
Show member pathways
11.95 HSPG2 COL4A1 AGRN
15
Show member pathways
11.93 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1 AGRN
16 11.86 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
17
Show member pathways
11.79 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
18 11.68 COL4A5 COL4A4 COL4A3 AGRN
19
Show member pathways
11.54 NID2 NID1 HSPG2 COL4A6 COL4A5 COL4A4
20 11.49 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
21 11.49 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
22 11.42 COL4A3 COL4A4 COL4A5
23 10.96 HSPG2 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
24 10.88 HSPG2 AGRN

GO Terms for Porencephaly

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.53 OFD1 NOTCH3 NID2 NID1 HSPG2 COL4A6
2 endoplasmic reticulum lumen GO:0005788 10.25 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
3 extracellular matrix GO:0031012 10.21 NID2 NID1 COL4A6 COL4A5 COL4A4 COL4A3
4 collagen-containing extracellular matrix GO:0062023 10.16 AGRN COL4A1 COL4A2 COL4A3 COL4A4 COL4A5
5 cellular anatomical entity GO:0110165 9.86 NID2 NID1 COL4A6 COL4A5 COL4A4 COL4A3
6 collagen trimer GO:0005581 9.8 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
7 collagen type IV trimer GO:0005587 9.73 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8 cell periphery GO:0071944 9.63 NID1 HSPG2 AGRN
9 basement membrane GO:0005604 9.58 NID2 NID1 HSPG2 COL4A6 COL4A5 COL4A4

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

# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 9.85 CRYGA CRYBA4 CRYAA
2 neuromuscular junction development GO:0007528 9.8 COL4A5 COL4A1 AGRN
3 extracellular matrix organization GO:0030198 9.77 NID1 COL4A6 COL4A5 COL4A4 COL4A3 COL4A2
4 basement membrane organization GO:0071711 9.73 NID2 NID1 COL4A1
5 cerebral cortex regionalization GO:0021796 9.71 EMX2 ADGRG1
6 glomerular basement membrane development GO:0032836 9.63 COL4A3 COL4A4 NID1
7 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.32 COL4A6 COL4A5 COL4A3 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.73 NID2 NID1 ADGRG1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.73 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6
3 structural constituent of eye lens GO:0005212 9.63 CRYGA CRYBA4 CRYAA
4 extracellular matrix structural constituent GO:0005201 9.58 NID2 NID1 COL4A6 COL4A5 COL4A4 COL4A3

Sources for Porencephaly

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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