MCID: PRN026
MIFTS: 48

Porencephaly malady

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

Aliases & Classifications for Porencephaly

Aliases & Descriptions for Porencephaly:

Name: Porencephaly 12 50 51 56 29 52 42 14

Characteristics:

Orphanet epidemiological data:

56
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 42 D065708
Orphanet 56 ORPHA2940
ICD10 via Orphanet 34 Q04.6

Summaries for Porencephaly

NIH Rare Diseases : 50 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. last updated: 3/15/2016

MalaCards based summary : Porencephaly is related to porencephaly 2 and familial porencephaly, and has symptoms including seizures, intellectual disability and spasticity. An important gene associated with Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are growth/size/body region and mortality/aging

NINDS : 51 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 : 71 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 128)
id Related Disease Score Top Affiliating Genes
1 porencephaly 2 33.6 COL4A1 COL4A2
2 familial porencephaly 12.3
3 porencephaly 1 12.3
4 porencephaly, cerebellar hypoplasia, and internal malformations 12.0
5 acquired porencephaly 11.9
6 coloboma porencephaly hydronephrosis 11.7
7 hydranencephaly 11.2
8 neuronal migration disorders 10.8
9 oculocerebrocutaneous syndrome 10.8
10 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.8
11 fara chlupackova syndrome 10.2 COL4A1 COL4A2
12 deafness, autosomal recessive 30 10.2 COL4A1 COL4A2
13 fga-related congenital afibrinogenemia 10.2 COL4A1 SIX3
14 spastic quadriplegia 10.2 COL4A1 SIX3
15 cervical adenitis 10.2 COL4A1 SIX3
16 scn8a-related epilepsy with encephalopathy 10.2 F2 MTHFR
17 porphyria 10.1 F2 MTHFR
18 mixed epithelial tumor of ovary 10.1 F2 MTHFR
19 spinal cord lipoma 10.1 F2 MTHFR
20 glutathionuria 10.1 F2 MTHFR
21 ductal carcinoma in situ 10.1 F2 MTHFR
22 congenital insensitivity to pain with severe intellectual disability 10.1 F2 F5
23 cerebritis 10.1
24 pancreatic ductal carcinoma 10.1 F2 F5
25 oxyphilic adenoma 10.1 F2 F5
26 hendra virus infection 10.1 F2 F5
27 alpha-2-plasmin inhibitor deficiency 10.1 F2 MTHFR
28 central retinal artery occlusion 10.1 F2 MTHFR
29 multiple familial trichoepithelioma 10.1 F5 MTHFR
30 stroke, ischemic 10.1 F2 F5
31 lymphocytic colitis 10.1 F2 F5
32 capillary hemangioma 10.1 F2 MTHFR
33 absence of innominate vein 10.1 F5 MTHFR
34 hyperostosis 10.1 MTHFR SIX3
35 fletcher factor deficiency 10.1 F2 F5
36 aminoaciduria 10.1 F5 MTHFR
37 neuroaxonal dystrophy 10.1 F2 F5
38 lung cancer 10.1 F5 MTHFR
39 myotonic dystrophy 10.1 F2 F5
40 hypertrichosis 10.1 F5 MTHFR
41 eagle syndrome 10.1 F2 F5
42 myosclerosis, congenital 10.1 F5 MTHFR
43 intestinal disaccharidase deficiency 10.1 F2 F5
44 central congenital hypothyroidism 10.1 F5 MTHFR
45 mixed cerebral palsy 10.1 F5 SIX3
46 pregnancy loss, recurrent 2 10.1 F2 F5
47 invasive pneumococcal disease, recurrent isolated, 1 10.0 F2 F5
48 hydrocephalus 10.0
49 low anorectal malformation 10.0 F2 F5
50 otopalatodigital syndrome, type i 10.0 F2 F5

Graphical network of the top 20 diseases related to Porencephaly:



Diseases related to Porencephaly

Symptoms & Phenotypes for Porencephaly

Human phenotypes related to Porencephaly:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 spasticity 56 32 Very frequent (99-80%) HP:0001257
4 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
5 ventriculomegaly 56 32 Very frequent (99-80%) HP:0002119
6 cerebral palsy 56 32 Frequent (79-30%) HP:0100021
7 porencephaly 56 32 Very frequent (99-80%) HP:0002132
8 abnormality of movement 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Porencephaly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 COL4A1 F2 F5 L1CAM MTHFR SIX3
2 mortality/aging MP:0010768 9.7 L1CAM MTHFR SIX3 COL4A1 COL4A2 F2
3 nervous system MP:0003631 9.5 COL4A1 COL4A2 F2 F5 L1CAM MTHFR
4 vision/eye MP:0005391 9.02 COL4A1 COL4A2 L1CAM MTHFR SIX3

Drugs & Therapeutics for Porencephaly

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Thrombin

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
2 COL4A1 Gene Related Cerebra-retinal Angiopathy Completed NCT01097564
3 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

Genetic tests related to Porencephaly:

id Genetic test Affiliating Genes
1 Porencephaly 29

Anatomical Context for Porencephaly

MalaCards organs/tissues related to Porencephaly:

39
Brain, Heart, Skin, Retina, Thalamus

Publications for Porencephaly

Articles related to Porencephaly:

(show top 50) (show all 161)
id Title Authors Year
1
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
2
Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly. ( 27094531 )
2016
3
Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation. ( 26686511 )
2016
4
Porencephaly in a fennec fox (Vulpes zerda). ( 27523321 )
2016
5
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. ( 26708157 )
2016
6
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
2015
7
Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy. ( 25786357 )
2015
8
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. ( 25425218 )
2015
9
Mirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands. ( 25602750 )
2015
10
Congenital porencephaly in a new born child. ( 25584288 )
2014
11
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
12
What is your neurologic diagnosis? Porencephaly. ( 23725423 )
2013
13
Bamforth syndrome: is porencephaly a new finding? ( 24341142 )
2013
14
Porencephaly in a cynomolgus monkey ( macaca fascicularis ). ( 22481858 )
2012
15
The differences in epileptic characteristics in patients with porencephaly and schizencephaly. ( 22024697 )
2012
16
De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. ( 22209246 )
2012
17
Traumatic porencephaly with strabismus: a case report. ( 22997566 )
2012
18
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? ( 22876576 )
2012
19
Optic disc morphology in porencephaly. ( 22427149 )
2012
20
COL4A2 mutation associated with familial porencephaly and small- vessel disease. ( 22333902 )
2012
21
Schmallenberg virus in calf born at term with porencephaly, Belgium. ( 22607989 )
2012
22
Porencephaly and cortical dysplasia as cause of seizures in a dog. ( 23269021 )
2012
23
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
24
Porencephaly in dogs and cats: magnetic resonance imaging findings and clinical signs. ( 22734149 )
2012
25
Congenital abdominal aortic aneurysm with porencephaly: a case report. ( 21160169 )
2011
26
Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. ( 21357838 )
2011
27
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. ( 19477666 )
2010
28
Porencephaly and psychosis: a case report and review of the literature. ( 20196853 )
2010
29
Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. ( 21035079 )
2010
30
Necrotising encephalopathy and porencephaly in lambs. ( 19578200 )
2009
31
Imaging diagnosis--porencephaly in a calf. ( 19507395 )
2009
32
Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning. ( 18777036 )
2009
33
Long-term outcome after neonatal intraparenchymal echodensities with porencephaly. ( 17704104 )
2008
34
Foetal cerebral hemispheric atrophy and porencephaly after intrauterine exposure to maternal warfarin for mechanical prosthetic heart valve. ( 18186154 )
2008
35
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. ( 16374828 )
2006
36
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. ( 16107487 )
2006
37
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. ( 15905400 )
2005
38
Cortical resection with electrocorticography for intractable porencephaly-related partial epilepsy. ( 15660771 )
2005
39
Genetic mutation predisposes to porencephaly. ( 15991439 )
2005
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
Prothrombotic factors in children with stroke or porencephaly. ( 16061602 )
2005
42
Hereditary porencephaly: clinical and MRI findings in two Dutch families. ( 15023374 )
2004
43
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. ( 15136694 )
2004
44
The factor V G1691A mutation is a risk for porencephaly: A case-control study. ( 15293282 )
2004
45
Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report. ( 14558022 )
2003
46
Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis. ( 12810487 )
2003
47
Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population. ( 12185542 )
2002
48
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. ( 12244556 )
2002
49
Unilateral porencephaly. ( 12037285 )
2002
50
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. ( 11438951 )
2001

Variations for Porencephaly

Expression for Porencephaly

Search GEO for disease gene expression data for Porencephaly.

Pathways for Porencephaly

GO Terms for Porencephaly

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

id Name GO ID Score Top Affiliating Genes
1 collagen type IV trimer GO:0005587 8.96 COL4A1 COL4A2
2 endoplasmic reticulum lumen GO:0005788 8.92 COL4A1 COL4A2 F2 F5

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

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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