MCID: PRN026
MIFTS: 49

Porencephaly

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

Aliases & Classifications for Porencephaly

MalaCards integrated aliases for Porencephaly:

Name: Porencephaly 12 77 54 55 60 38 56 45 15

Characteristics:

Orphanet epidemiological data:

60
porencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (United States),1-9/100000 (Japan); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060263
KEGG 38 H00839
MeSH 45 D065708
SNOMED-CT 69 38353004
ICD10 34 Q04.6
ICD10 via Orphanet 35 Q04.6
UMLS via Orphanet 75 C0302892
Orphanet 60 ORPHA2940

Summaries for Porencephaly

NIH Rare Diseases : 54 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 (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.

MalaCards based summary : Porencephaly is related to familial porencephaly and hemiplegia. An important gene associated with Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Ethanol and Atosiban have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are spasticity and ventriculomegaly

Disease Ontology : 12 A brain disease that is characterized by encephalomalacia and cystic brain lesions.

NINDS : 55 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.

Wikipedia : 77 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 120)
# Related Disease Score Top Affiliating Genes
1 familial porencephaly 34.3 COL4A1 COL4A2
2 hemiplegia 30.4 COL4A1 COL4A2
3 hemorrhage, intracerebral 30.3 COL4A1 COL4A2
4 schizencephaly 30.1 COL4A1 F5 MTHFR
5 thrombophilia 29.3 F2 F5 MTHFR
6 cerebral palsy 29.3 COL4A1 F2 F5 MTHFR
7 porencephaly, cerebellar hypoplasia, and internal malformations 12.3
8 acquired porencephaly 12.2
9 brain small vessel disease 1 with or without ocular anomalies 12.2
10 coloboma porencephaly hydronephrosis 12.0
11 brain small vessel disease 2 12.0
12 bamforth syndrome 11.5
13 hydranencephaly 11.4
14 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.1
15 oculocerebrocutaneous syndrome 11.1
16 brain small vessel disease 3 11.1
17 neuronal migration disorders 11.1
18 hydrocephalus 10.3
19 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.2 COL4A1 COL4A2
20 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A1 COL4A2
21 west syndrome 10.1
22 polymicrogyria 10.1
23 mesenteric vascular occlusion 10.1 F2 MTHFR
24 ischemic neuropathy 10.1 F2 MTHFR
25 marantic endocarditis 10.1 F2 MTHFR
26 eclampsia 10.1 F2 MTHFR
27 livedoid vasculitis 10.1 F2 MTHFR
28 hepatic infarction 10.1 F2 MTHFR
29 buerger disease 10.1 F2 MTHFR
30 branch retinal artery occlusion 10.1 F2 MTHFR
31 hepatic vascular disease 10.1 F2 MTHFR
32 neural tube defects 10.0
33 cerebellar hypoplasia 10.0
34 thrombocytopenia 10.0
35 epilepsy 10.0
36 purpura 10.0
37 arachnoid cysts 10.0
38 paracetamol poisoning 10.0 F2 F5
39 cerebral sinovenous thrombosis 9.9 F2 F5
40 osteonecrosis 9.9 F2 MTHFR
41 hemoglobin e disease 9.9 F2 F5
42 prothrombin deficiency, congenital 9.9 F2 F5
43 sagittal sinus thrombosis 9.9 F2 F5
44 ischemic colitis 9.9 F2 F5
45 factor viii deficiency 9.9 F2 F5
46 inferior vena cava interruption 9.9 F5 MTHFR
47 amaurosis fugax 9.9 F5 MTHFR
48 post-thrombotic syndrome 9.9 F2 F5
49 peripheral vertigo 9.9 F2 F5
50 catastrophic antiphospholipid syndrome 9.9 F5 MTHFR

Graphical network of the top 20 diseases related to Porencephaly:



Diseases related to Porencephaly

Symptoms & Phenotypes for Porencephaly

Human phenotypes related to Porencephaly:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
2 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
3 porencephalic cyst 33 hallmark (90%) HP:0002132
4 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
7 cerebral palsy 60 33 frequent (33%) Frequent (79-30%) HP:0100021
8 abnormality of movement 60 Very frequent (99-80%)
9 porencephaly 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Porencephaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 COL4A1 COL4A2 F2 F5 L1CAM MTHFR
2 nervous system MP:0003631 9.43 COL4A1 COL4A2 F2 F5 L1CAM MTHFR
3 reproductive system MP:0005389 9.02 COL4A1 COL4A2 F2 L1CAM MTHFR

Drugs & Therapeutics for Porencephaly

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Atosiban Approved, Investigational Phase 3 90779-69-4
3 Vasotocin Phase 3
4 Tocolytic Agents Phase 3
5 Hormones Phase 3
6 Vasoconstrictor Agents Phase 3
7 Hormone Antagonists Phase 3
8 Oxytocics Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Pharmaceutical Solutions Phase 3
11
Dobutamine Approved Phase 1, Phase 2 34368-04-2 36811
12 Protective Agents Phase 1, Phase 2
13 Cardiotonic Agents Phase 1, Phase 2
14 Adrenergic Agents Phase 1, Phase 2
15 Neurotransmitter Agents Phase 1, Phase 2
16 Sympathomimetics Phase 1, Phase 2
17 Adrenergic Agonists Phase 1, Phase 2
18 Autonomic Agents Phase 1, Phase 2
19 Adrenergic beta-Agonists Phase 1, Phase 2
20 Peripheral Nervous System Agents Phase 1, Phase 2
21
Thrombin Approved, Investigational

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Study Comparing the Efficacy and Safety of Retosiban Versus Atosiban for Women in Spontaneous Preterm Labour Terminated NCT02292771 Phase 3 Retosiban;Atosiban;Placebo matching retosiban;Placebo matching atosiban
2 Dobutamine in the Treatment of Haemodynamic Insufficiency in the Immediate Postnatal Period Terminated NCT03311178 Phase 1, Phase 2 Dobutamine
3 Efficacy of Allogeneic Umbilical Cord Derived Hematopoietic and Mesenchymal Stem Cells in Cerebral Palsy Active, not recruiting NCT03795974 Phase 2
4 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
5 Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage Recruiting NCT03019692
6 COL4A1 Gene Related Cerebra-retinal Angiopathy Completed NCT01097564

Search NIH Clinical Center for Porencephaly

Cochrane evidence based reviews: porencephaly

Genetic Tests for Porencephaly

Anatomical Context for Porencephaly

MalaCards organs/tissues related to Porencephaly:

42
Brain, Heart, Skin, Retina, Thalamus

Publications for Porencephaly

Articles related to Porencephaly:

(show top 50) (show all 166)
# Title Authors Year
1
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. ( 29907476 )
2018
2
Asymmetry of the bilateral bispectral index in a hemiparetic patient with porencephaly. ( 30594096 )
2018
3
A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy. ( 28116109 )
2017
4
Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases. ( 29434494 )
2017
5
Porencephaly in a fennec fox (Vulpes zerda). ( 27523321 )
2016
6
Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly. ( 27094531 )
2016
7
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation. ( 26686511 )
2016
8
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. ( 26708157 )
2016
9
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
10
Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy. ( 25786357 )
2015
11
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. ( 25425218 )
2015
12
Mirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands. ( 25602750 )
2015
13
Congenital porencephaly in a new born child. ( 25584288 )
2014
14
What is your neurologic diagnosis? Porencephaly. ( 23725423 )
2013
15
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
16
Bamforth syndrome: is porencephaly a new finding? ( 24341142 )
2013
17
Schmallenberg virus in calf born at term with porencephaly, Belgium. ( 22607989 )
2012
18
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
19
The differences in epileptic characteristics in patients with porencephaly and schizencephaly. ( 22024697 )
2012
20
Porencephaly in dogs and cats: magnetic resonance imaging findings and clinical signs. ( 22734149 )
2012
21
COL4A2 mutation associated with familial porencephaly and small- vessel disease. ( 22333902 )
2012
22
Porencephaly and cortical dysplasia as cause of seizures in a dog. ( 23269021 )
2012
23
Traumatic porencephaly with strabismus: a case report. ( 22997566 )
2012
24
Porencephaly in a cynomolgus monkey ( macaca fascicularis ). ( 22481858 )
2012
25
Optic disc morphology in porencephaly. ( 22427149 )
2012
26
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? ( 22876576 )
2012
27
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. ( 22209246 )
2012
28
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. ( 21357838 )
2011
29
Congenital abdominal aortic aneurysm with porencephaly: a case report. ( 21160169 )
2011
30
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. ( 19477666 )
2010
31
Porencephaly and psychosis: a case report and review of the literature. ( 20196853 )
2010
32
Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. ( 21035079 )
2010
33
Imaging diagnosis--porencephaly in a calf. ( 19507395 )
2009
34
Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning. ( 18777036 )
2009
35
Necrotising encephalopathy and porencephaly in lambs. ( 19578200 )
2009
36
Long-term outcome after neonatal intraparenchymal echodensities with porencephaly. ( 17704104 )
2008
37
Foetal cerebral hemispheric atrophy and porencephaly after intrauterine exposure to maternal warfarin for mechanical prosthetic heart valve. ( 18186154 )
2008
38
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. ( 16374828 )
2006
39
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. ( 16107487 )
2006
40
Neonatal porencephaly in very low birth weight infants: ultrasound timing of asphyxial injury and neurodevelopmental outcome at two years of age. ( 16390800 )
2005
41
Genetic mutation predisposes to porencephaly. ( 15991439 )
2005
42
Prothrombotic factors in children with stroke or porencephaly. ( 16061602 )
2005
43
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. ( 15905400 )
2005
44
Cortical resection with electrocorticography for intractable porencephaly-related partial epilepsy. ( 15660771 )
2005
45
The factor V G1691A mutation is a risk for porencephaly: A case-control study. ( 15293282 )
2004
46
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. ( 15136694 )
2004
47
Hereditary porencephaly: clinical and MRI findings in two Dutch families. ( 15023374 )
2004
48
Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis. ( 12810487 )
2003
49
Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report. ( 14558022 )
2003
50
Unilateral porencephaly. ( 12037285 )
2002

Variations for Porencephaly

Expression for Porencephaly

Search GEO for disease gene expression data for Porencephaly.

Pathways for Porencephaly

Pathways related to Porencephaly according to KEGG:

38
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Porencephaly according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 COL4A1 COL4A2 COLGALT2
2
Show member pathways
11.74 COL4A1 COL4A2 COLGALT2 F2 F5
3
Show member pathways
11.53 COL4A1 F2 F5
4 11.48 COL4A1 COL4A2
5 11.45 COL4A1 COL4A2
6 11.22 COL4A1 COL4A2
7 11.09 COL4A1 COL4A2
8 11 COL4A1 COL4A2
9 10.92 COL4A1 COL4A2
10 10.84 COL4A1 COL4A2 F2
11 10.82 COL4A1 COL4A2

GO Terms for Porencephaly

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 COL4A1 COL4A2 L1CAM
2 basement membrane GO:0005604 9.32 COL4A1 COL4A2
3 collagen trimer GO:0005581 9.26 COL4A1 COL4A2
4 endoplasmic reticulum lumen GO:0005788 9.02 COL4A1 COL4A2 COLGALT2 F2 F5
5 collagen type IV trimer GO:0005587 8.96 COL4A1 COL4A2

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

# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.16 F2 F5
2 blood circulation GO:0008015 8.96 F5 MTHFR
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A1 COL4A2

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

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

Sources for Porencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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