MCID: PRN026
MIFTS: 49

Porencephaly

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

Aliases & Classifications for Porencephaly

MalaCards integrated aliases for Porencephaly:

Name: Porencephaly 12 76 53 54 59 37 55 44 15

Characteristics:

Orphanet epidemiological data:

59
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
ICD10 33 Q04.6
MeSH 44 D065708
Orphanet 59 ORPHA2940
ICD10 via Orphanet 34 Q04.6
UMLS via Orphanet 74 C0302892
KEGG 37 H00839

Summaries for Porencephaly

NIH Rare Diseases : 53 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 porencephaly 1. 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 Folic Acid and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thalamus, and related phenotypes are intellectual disability and seizures

NINDS : 54 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 : 76 Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological... more...

Related Diseases for Porencephaly

Diseases in the Porencephaly family:

Porencephaly 1 Porencephaly 2
Familial Porencephaly Acquired Porencephaly

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

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 familial porencephaly 34.5 COL4A1 COL4A2
2 porencephaly 1 34.5 COL4A1 COL4A2
3 hemiplegia 30.4 COL4A1 COL4A2
4 encephalomalacia 29.8 MTHFR SIX3
5 thrombophilia 28.5 F2 F5 MTHFR
6 schizencephaly 28.5 COL4A1 F5 MTHFR SIX3
7 cerebral palsy 28.2 COL4A1 F2 F5 MTHFR
8 porencephaly 2 12.3
9 porencephaly, cerebellar hypoplasia, and internal malformations 12.1
10 acquired porencephaly 12.0
11 coloboma porencephaly hydronephrosis 11.8
12 bamforth syndrome 11.4
13 hydranencephaly 11.3
14 oculocerebrocutaneous syndrome 10.9
15 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.9
16 neuronal migration disorders 10.9
17 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A1 COL4A2
18 corneal dystrophy, posterior polymorphous, 3 10.4 COL4A1 COL4A2
19 hemorrhage, intracerebral 10.4 COL4A1 COL4A2
20 spastic hemiplegia 10.4 COL4A1 SIX3
21 mesenteric vascular occlusion 10.3 F2 MTHFR
22 blood protein disease 10.3 F2 MTHFR
23 ischemic neuropathy 10.3 F2 MTHFR
24 marantic endocarditis 10.3 F2 MTHFR
25 buerger disease 10.3 F2 MTHFR
26 hepatic infarction 10.2 F2 MTHFR
27 branch retinal artery occlusion 10.2 F2 MTHFR
28 cerebritis 10.2
29 hepatic vascular disease 10.2 F2 MTHFR
30 hydrocephalus 10.1
31 nutritional deficiency disease 10.1 F2 MTHFR
32 osteonecrosis 10.0 F2 MTHFR
33 paracetamol poisoning 10.0 F2 F5
34 cerebral sinovenous thrombosis 10.0 F2 F5
35 hemoglobin e disease 9.9 F2 F5
36 prothrombin deficiency, congenital 9.9 F2 F5
37 sagittal sinus thrombosis 9.9 F2 F5
38 west syndrome 9.9
39 polymicrogyria 9.9
40 ischemic colitis 9.9 F2 F5
41 factor viii deficiency 9.9 F2 F5
42 sneddon syndrome 9.9 F2 F5
43 sickle cell anemia 9.9 F2 MTHFR
44 inferior vena cava interruption 9.9 F5 MTHFR
45 prothrombin deficiency 9.9 F2 F5
46 amaurosis fugax 9.9 F5 MTHFR
47 post-thrombotic syndrome 9.9 F2 F5
48 peripheral vertigo 9.9 F2 F5
49 scott syndrome 9.9 F2 F5
50 migraine with aura 9.9 F2 MTHFR

Graphical network of the top 20 diseases related to Porencephaly:



Diseases related to Porencephaly

Symptoms & Phenotypes for Porencephaly

Human phenotypes related to Porencephaly:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
5 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
6 cerebral palsy 59 32 frequent (33%) Frequent (79-30%) HP:0100021
7 porencephaly 59 Very frequent (99-80%)
8 abnormality of movement 59 Very frequent (99-80%)
9 porencephalic cyst 32 hallmark (90%) HP:0002132

MGI Mouse Phenotypes related to Porencephaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 F2 F5 L1CAM MTHFR SIX3 COL4A1
2 mortality/aging MP:0010768 9.7 F2 F5 L1CAM MTHFR SIX3 COL4A1
3 nervous system MP:0003631 9.5 F2 F5 L1CAM MTHFR SIX3 COL4A1
4 vision/eye MP:0005391 9.02 COL4A2 L1CAM MTHFR SIX3 COL4A1

Drugs & Therapeutics for Porencephaly

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
2 Micronutrients Phase 3
3 Pharmaceutical Solutions Phase 3
4 Trace Elements Phase 3
5 Vitamin B Complex Phase 3
6 Vitamins Phase 3
7 Folate Nutraceutical Phase 3
8 Vitamin B9 Nutraceutical Phase 3
9
Dobutamine Approved Phase 1, Phase 2 34368-04-2 36811
10 Adrenergic Agents Phase 1, Phase 2
11 Adrenergic Agonists Phase 1, Phase 2
12 Adrenergic beta-Agonists Phase 1, Phase 2
13 Autonomic Agents Phase 1, Phase 2
14 Neurotransmitter Agents Phase 1, Phase 2
15 Peripheral Nervous System Agents Phase 1, Phase 2
16 Protective Agents Phase 1, Phase 2
17
Thrombin Approved, Investigational

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inositol to Reduce Retinopathy of Prematurity Terminated NCT01954082 Phase 3 myo-Inositol 5% Injection;Placebo
2 Dobutamine in the Treatment of Haemodynamic Insufficiency in the Immediate Postnatal Period Terminated NCT03311178 Phase 1, Phase 2 Dobutamine
3 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
4 COL4A1 Gene Related Cerebra-retinal Angiopathy Completed NCT01097564
5 Longterm Outcome of Children With Neonatal Intra-Ventricular or Intra-Cranial Hemorrhage Recruiting NCT03019692

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:

41
Brain, Heart, Thalamus, Skin, Retina

Publications for Porencephaly

Articles related to Porencephaly:

(show top 50) (show all 164)
# Title Authors Year
1
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. ( 29907476 )
2018
2
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
3
Schizencephaly and Porencephaly Due to Fetal Intracranial Hemorrhage: A Report of Two Cases. ( 29434494 )
2017
4
Porencephaly in a fennec fox (Vulpes zerda). ( 27523321 )
2016
5
Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly. ( 27094531 )
2016
6
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation. ( 26686511 )
2016
7
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. ( 26708157 )
2016
8
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
9
Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy. ( 25786357 )
2015
10
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. ( 25425218 )
2015
11
Mirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands. ( 25602750 )
2015
12
Congenital porencephaly in a new born child. ( 25584288 )
2014
13
What is your neurologic diagnosis? Porencephaly. ( 23725423 )
2013
14
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
15
Bamforth syndrome: is porencephaly a new finding? ( 24341142 )
2013
16
Schmallenberg virus in calf born at term with porencephaly, Belgium. ( 22607989 )
2012
17
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
18
The differences in epileptic characteristics in patients with porencephaly and schizencephaly. ( 22024697 )
2012
19
Porencephaly in dogs and cats: magnetic resonance imaging findings and clinical signs. ( 22734149 )
2012
20
COL4A2 mutation associated with familial porencephaly and small- vessel disease. ( 22333902 )
2012
21
Porencephaly and cortical dysplasia as cause of seizures in a dog. ( 23269021 )
2012
22
Traumatic porencephaly with strabismus: a case report. ( 22997566 )
2012
23
Porencephaly in a cynomolgus monkey ( macaca fascicularis ). ( 22481858 )
2012
24
Optic disc morphology in porencephaly. ( 22427149 )
2012
25
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? ( 22876576 )
2012
26
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. ( 22209246 )
2012
27
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. ( 21357838 )
2011
28
Congenital abdominal aortic aneurysm with porencephaly: a case report. ( 21160169 )
2011
29
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. ( 19477666 )
2010
30
Porencephaly and psychosis: a case report and review of the literature. ( 20196853 )
2010
31
Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. ( 21035079 )
2010
32
Imaging diagnosis--porencephaly in a calf. ( 19507395 )
2009
33
Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning. ( 18777036 )
2009
34
Necrotising encephalopathy and porencephaly in lambs. ( 19578200 )
2009
35
Long-term outcome after neonatal intraparenchymal echodensities with porencephaly. ( 17704104 )
2008
36
Foetal cerebral hemispheric atrophy and porencephaly after intrauterine exposure to maternal warfarin for mechanical prosthetic heart valve. ( 18186154 )
2008
37
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. ( 16374828 )
2006
38
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. ( 16107487 )
2006
39
Neonatal porencephaly in very low birth weight infants: ultrasound timing of asphyxial injury and neurodevelopmental outcome at two years of age. ( 16390800 )
2005
40
Genetic mutation predisposes to porencephaly. ( 15991439 )
2005
41
Prothrombotic factors in children with stroke or porencephaly. ( 16061602 )
2005
42
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. ( 15905400 )
2005
43
Cortical resection with electrocorticography for intractable porencephaly-related partial epilepsy. ( 15660771 )
2005
44
The factor V G1691A mutation is a risk for porencephaly: A case-control study. ( 15293282 )
2004
45
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. ( 15136694 )
2004
46
Hereditary porencephaly: clinical and MRI findings in two Dutch families. ( 15023374 )
2004
47
Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis. ( 12810487 )
2003
48
Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report. ( 14558022 )
2003
49
Unilateral porencephaly. ( 12037285 )
2002
50
Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population. ( 12185542 )
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:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

GO Terms for Porencephaly

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.33 COL4A1 COL4A2 L1CAM
2 basement membrane GO:0005604 9.26 COL4A1 COL4A2
3 collagen type IV trimer GO:0005587 8.96 COL4A1 COL4A2
4 endoplasmic reticulum lumen GO:0005788 8.92 COL4A1 COL4A2 F2 F5

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

# Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 9.26 COL4A1 COL4A2
2 hemostasis GO:0007599 9.16 F2 F5
3 blood circulation GO:0008015 8.96 F5 MTHFR
4 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 GO:0005201 8.62 COL4A1 COL4A2

Sources for 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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