MCID: PRN026
MIFTS: 48

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, retina 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:

(showing 127, show less)
# 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 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 30.2 COL4A1 COL4A2
5 schizencephaly 30.1 COL4A1 F5 MTHFR
6 thrombophilia 29.3 F2 F5 MTHFR
7 cerebral palsy 29.3 COL4A1 F2 F5 MTHFR
8 brain small vessel disease 1 with or without ocular anomalies 12.4
9 porencephaly, cerebellar hypoplasia, and internal malformations 12.3
10 brain small vessel disease 2 12.2
11 acquired porencephaly 12.2
12 coloboma porencephaly hydronephrosis 12.1
13 bamforth syndrome 11.5
14 hydranencephaly 11.4
15 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 11.1
16 oculocerebrocutaneous syndrome 11.1
17 brain small vessel disease 3 11.1
18 neuronal migration disorders 11.1
19 hydrocephalus 10.3
20 corneal dystrophy, posterior polymorphous, 3 10.2 COL4A1 COL4A2
21 mesenteric vascular occlusion 10.1 F2 MTHFR
22 west syndrome 10.1
23 polymicrogyria 10.1
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 encephalopathy 10.0
39 paracetamol poisoning 10.0 F2 F5
40 cerebral sinovenous thrombosis 10.0 F2 F5
41 osteonecrosis 10.0 F2 MTHFR
42 hemoglobin e disease 10.0 F2 F5
43 prothrombin deficiency, congenital 9.9 F2 F5
44 sagittal sinus thrombosis 9.9 F2 F5
45 ischemic colitis 9.9 F2 F5
46 factor viii deficiency 9.9 F2 F5
47 inferior vena cava interruption 9.9 F5 MTHFR
48 amaurosis fugax 9.9 F5 MTHFR
49 post-thrombotic syndrome 9.9 F2 F5
50 peripheral vertigo 9.9 F2 F5
51 catastrophic antiphospholipid syndrome 9.9 F5 MTHFR
52 sickle cell anemia 9.9 F2 MTHFR
53 aortic aneurysm, familial abdominal, 1 9.9
54 coloboma of macula 9.9
55 hypertelorism 9.9
56 strabismus 9.9
57 cutis marmorata telangiectatica congenita 9.9
58 myofibromatosis, infantile, 1 9.9
59 gyrate atrophy of choroid and retina 9.9
60 cyclic vomiting syndrome 9.9
61 asphyxia neonatorum 9.9
62 cataract 9.9
63 cerebral hemorrhage 9.9
64 primary autosomal recessive microcephaly 9.9
65 renal hypoplasia 9.9
66 hydronephrosis 9.9
67 focal epilepsy 9.9
68 aortic aneurysm 9.9
69 orofaciodigital syndrome 9.9
70 mechanical strabismus 9.9
71 meningitis 9.9
72 encephalitis 9.9
73 tubulinopathies 9.9
74 cytomegalic inclusion disease 9.9
75 encephalocele 9.9
76 fibromatosis 9.9
77 neonatal meningitis 9.9
78 myoclonus 9.9
79 cytomegalovirus infection 9.9
80 dysfibrinogenemia 9.9 F2 F5
81 gastroschisis 9.9 F5 MTHFR
82 acute liver failure 9.9 F2 F5
83 intracranial thrombosis 9.9 F5 MTHFR
84 factor x deficiency 9.9 F2 F5
85 afibrinogenemia 9.8 F2 F5
86 factor v deficiency 9.8 F2 F5
87 von willebrand's disease 9.8 F2 F5
88 placenta disease 9.8 F5 MTHFR
89 disseminated intravascular coagulation 9.7 F2 F5
90 spinal cord infarction 9.7 F2 F5 MTHFR
91 sudden sensorineural hearing loss 9.7 F2 F5 MTHFR
92 cryptogenic cirrhosis 9.7 F2 F5 MTHFR
93 vascular disease 9.7 F2 F5 MTHFR
94 retinal vascular occlusion 9.7 F2 F5 MTHFR
95 thrombophlebitis 9.7 F2 F5 MTHFR
96 antithrombin iii deficiency 9.7 F2 F5 MTHFR
97 central retinal vein occlusion 9.7 F2 F5 MTHFR
98 retinal vein occlusion 9.7 F2 F5 MTHFR
99 blood protein disease 9.7 F2 F5 MTHFR
100 retinal artery occlusion 9.7 F2 F5 MTHFR
101 portal vein thrombosis 9.7 F2 F5 MTHFR
102 thrombosis 9.7 F2 F5 MTHFR
103 pulmonary artery disease 9.7 F2 F5 MTHFR
104 arteritic anterior ischemic optic neuropathy 9.7 F2 F5 MTHFR
105 ischemic optic neuropathy 9.7 F2 F5 MTHFR
106 protein s deficiency 9.7 F2 F5 MTHFR
107 placental abruption 9.7 F2 F5 MTHFR
108 thrombasthenia 9.7 F2 F5 MTHFR
109 protein c deficiency 9.7 F2 F5 MTHFR
110 vein disease 9.7 F2 F5 MTHFR
111 intracranial hypertension 9.7 F2 F5 MTHFR
112 blood coagulation disease 9.7 F2 F5 MTHFR
113 thrombophilia due to activated protein c resistance 9.7 F2 F5 MTHFR
114 nonarteritic anterior ischemic optic neuropathy 9.7 F2 F5 MTHFR
115 budd-chiari syndrome 9.7 F2 F5 MTHFR
116 homocysteinemia 9.7 F2 F5 MTHFR
117 varicose veins 9.7 F2 F5 MTHFR
118 thrombophilia due to thrombin defect 9.7 F2 F5 MTHFR
119 antiphospholipid syndrome 9.7 F2 F5 MTHFR
120 pulmonary embolism 9.7 F2 F5 MTHFR
121 patent foramen ovale 9.7 F2 F5 MTHFR
122 hellp syndrome 9.7 F2 F5 MTHFR
123 stroke, ischemic 9.6 F2 F5 MTHFR
124 pre-eclampsia 9.6 F2 F5 MTHFR
125 homocystinuria 9.6 F5 MTHFR
126 hemorrhagic disease 9.5 F2 F5
127 cerebrovascular disease 9.5 COL4A1 F2 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 (showing 9, show less)
# 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 (showing 3, show less)
# 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):

(showing 21, show less)
# 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 Oxytocics Phase 3
4 Pharmaceutical Solutions Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
6 Vasotocin Phase 3
7 Hormones Phase 3
8 Hormone Antagonists Phase 3
9 Vasoconstrictor Agents Phase 3
10 Tocolytic Agents Phase 3
11
Dobutamine Approved Phase 1, Phase 2 34368-04-2 36811
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Adrenergic Agents Phase 1, Phase 2
14 Cardiotonic Agents Phase 1, Phase 2
15 Adrenergic Agonists Phase 1, Phase 2
16 Autonomic Agents Phase 1, Phase 2
17 Neurotransmitter Agents Phase 1, Phase 2
18 Protective Agents Phase 1, Phase 2
19 Sympathomimetics Phase 1, Phase 2
20 Adrenergic beta-Agonists Phase 1, Phase 2
21
Thrombin Approved, Investigational

Interventional clinical trials:

(showing 6, show less)
# 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 Efficacy of Allogeneic Umbilical Cord Derived Hematopoietic and Mesenchymal Stem Cells in Cerebral Palsy Active, not recruiting NCT03795974 Phase 2
3 Dobutamine in the Treatment of Haemodynamic Insufficiency in the Immediate Postnatal Period Terminated NCT03311178 Phase 1, Phase 2 Dobutamine
4 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
5 COL4A1 Gene Related Cerebra-retinal Angiopathy Completed NCT01097564
6 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:

42
Brain, Retina, Skin, Thalamus, Spinal Cord, Placenta

Publications for Porencephaly

Articles related to Porencephaly:

(showing 166, show less)
# 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
Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan. ( 26545857 )
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
Decrement of mirror movements by repetitive transcranial magnetic stimulation in a patient with porencephaly. ( 27094531 )
2016
9
Porencephaly in a fennec fox (Vulpes zerda). ( 27523321 )
2016
10
Mirror movements in patients with hemiplegic cerebral palsy and porencephaly: when one hand becomes two hands. ( 25602750 )
2015
11
Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation. ( 25425218 )
2015
12
Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy. ( 25786357 )
2015
13
Congenital porencephaly in a new born child. ( 25584288 )
2014
14
Bamforth syndrome: is porencephaly a new finding? ( 24341142 )
2013
15
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. ( 23225343 )
2013
16
What is your neurologic diagnosis? Porencephaly. ( 23725423 )
2013
17
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? ( 22876576 )
2012
18
COL4A2 mutation associated with familial porencephaly and small-vessel disease. ( 22333902 )
2012
19
Porencephaly and hydranencephaly in six dogs. ( 22186380 )
2012
20
The differences in epileptic characteristics in patients with porencephaly and schizencephaly. ( 22024697 )
2012
21
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. ( 22209246 )
2012
22
Optic disc morphology in porencephaly. ( 22427149 )
2012
23
Porencephaly in a cynomolgus monkey ( macaca fascicularis ). ( 22481858 )
2012
24
Schmallenberg virus in calf born at term with porencephaly, Belgium. ( 22607989 )
2012
25
Porencephaly in dogs and cats: magnetic resonance imaging findings and clinical signs. ( 22734149 )
2012
26
Traumatic porencephaly with strabismus: a case report. ( 22997566 )
2012
27
Porencephaly and cortical dysplasia as cause of seizures in a dog. ( 23269021 )
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
Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning. ( 18777036 )
2009
34
Imaging diagnosis--porencephaly in a calf. ( 19507395 )
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
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. ( 16107487 )
2006
39
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. ( 16374828 )
2006
40
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. ( 15905400 )
2005
41
Cortical resection with electrocorticography for intractable porencephaly-related partial epilepsy. ( 15660771 )
2005
42
Genetic mutation predisposes to porencephaly. ( 15991439 )
2005
43
Prothrombotic factors in children with stroke or porencephaly. ( 16061602 )
2005
44
Neonatal porencephaly in very low birth weight infants: ultrasound timing of asphyxial injury and neurodevelopmental outcome at two years of age. ( 16390800 )
2005
45
Hereditary porencephaly: clinical and MRI findings in two Dutch families. ( 15023374 )
2004
46
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. ( 15136694 )
2004
47
The factor V G1691A mutation is a risk for porencephaly: A case-control study. ( 15293282 )
2004
48
Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report. ( 14558022 )
2003
49
Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis. ( 12810487 )
2003
50
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. ( 12244556 )
2002
51
Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population. ( 12185542 )
2002
52
Unilateral porencephaly. ( 12037285 )
2002
53
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. ( 11438951 )
2001
54
How should patients with porencephaly and generalized seizures such as West syndrome be treated? ( 10598061 )
1999
55
The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. ( 10206533 )
1999
56
Congenital porencephaly: MR features and relationship to hippocampal sclerosis. ( 9432171 )
1998
57
Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly. ( 9577282 )
1998
58
Absence of relative afferent pupillary defect and pupillary hemiakinesia in a child with homonymous hemianopia due to ((retro-)geniculate) porencephaly. ( 9640207 )
1998
59
Congenital porencephaly and hippocampal sclerosis. Clinical features and epileptic spectrum. ( 9371926 )
1997
60
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. ( 8737647 )
1996
61
Prenatal sonographic diagnosis of anterior fossa porencephaly. ( 8621816 )
1996
62
X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family. ( 8641541 )
1996
63
X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family. ( 8674913 )
1996
64
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. ( 8574421 )
1995
65
Fetal porencephaly: a review of etiology, diagnosis, and prognosis. ( 7478420 )
1995
66
Porencephaly secondary to fetal trauma during amniocentesis. ( 7724140 )
1995
67
Porencephaly and transverse limb defects following severe maternal trauma in early pregnancy. ( 7735509 )
1995
68
Unusual post traumatic porencephaly. ( 9081974 )
1995
69
Porencephaly, hydranencephaly and leukoencephalopathy in ovine fetuses following transplacental infection with bovine virus diarrhoea virus: distribution of viral antigen and characterization of cellular response. ( 8017174 )
1994
70
Cerebellar porencephaly in an adult--case report. ( 7529375 )
1994
71
West syndrome associated with porencephaly. ( 7803308 )
1994
72
Familial porencephaly. ( 8253500 )
1993
73
CVS and porencephaly. ( 8140074 )
1993
74
Experimentally induced laminar necrosis, status verrucosus, focal cortical dysplasia reminiscent of microgyria, and porencephaly in the rat. ( 8359242 )
1993
75
The role of CT-imaging in recognizing the type of hydrocephalus and porencephaly in children. ( 8534154 )
1993
76
Postnatal encephaloclastic porencephaly--a new lesion? ( 1575554 )
1992
77
A case of Dandy Walker cyst with porencephaly. ( 1621130 )
1992
78
Postnatal porencephaly induced in mouse by murine cytomegalovirus. ( 1664630 )
1991
79
Unusual posttraumatic porencephaly--case report. ( 1715054 )
1991
80
Reversible porencephaly. Alteration of the cerebrospinal fluid flow after shunt malfunction. ( 1794120 )
1991
81
Porencephaly: a possible complication of chorion villus sampling? ( 1802844 )
1991
82
Familial porencephaly. ( 2282721 )
1990
83
Hydrocephalus and porencephaly: prenatal diagnosis by ultrasonography and MR imaging. ( 2204639 )
1990
84
Porencephaly and hydranencephaly: a neuropathological study of four autopsy cases. ( 2923267 )
1989
85
Porencephaly--a potentially avoidable complication of neonatal meningitis. ( 2599620 )
1989
86
Porencephaly and optic hypoplasia in neonatal isoimmune thrombocytopenia. ( 2505691 )
1989
87
Congenital blindness, porencephaly, and neonatal thrombocytopenia: a report of four cases. ( 3372970 )
1988
88
Congenital midline porencephaly. Prenatal sonographic findings and review of the literature. ( 3551974 )
1987
89
Porencephaly and schizencephaly in adopted infants. Frequency ascertainment in a risk group. ( 3568516 )
1987
90
Porencephaly: computed tomography (CT) scan findings. ( 3581816 )
1987
91
A case of porencephaly associated with aneurysm. ( 3594469 )
1987
92
Destructive hydrocephalus and porencephaly combined with the hydrocephalic process. ( 3690554 )
1987
93
Familial porencephaly and congenital hemiplegia. ( 3761085 )
1986
94
Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly associated with a new maternal antiplatelet antibody. ( 2936411 )
1986
95
Prenatal porencephaly: the pattern of secondary lesions. ( 3776471 )
1986
96
The syndrome of the absence of a septum pellucidum with porencephaly. ( 3826556 )
1986
97
Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody. ( 2581641 )
1985
98
EEG topography in porencephaly and arachnoid cyst. ( 4028451 )
1985
99
Congenital generalized fibromatosis: a review of the literature and report of a case associated with porencephaly, hemiatrophy, and cutis marmorata telangiectatica congenita. ( 6368619 )
1984
100
Congenital hydranencephaly/porencephaly due to vascular disruption in monozygotic twins. ( 6709425 )
1984
101
Report of ten cases of porencephaly. ( 6443268 )
1984
102
Fetal hydrocephalus. II. Amelioration of fetal porencephaly by in utero therapy in nonhuman primates. ( 6609246 )
1984
103
Familial porencephaly. ( 6615288 )
1983
104
Serial sonography of posthemorrhagic ventricular dilatation and porencephaly after intracranial hemorrhage in the preterm neonate. ( 6603749 )
1983
105
Polymicrogyria and porencephaly after intrauterine cytomegaly virus infection. ( 6306509 )
1982
106
Neonatal posthemorrhagic porencephaly: ultrasonographic features. ( 7102622 )
1982
107
Porencephaly. ( 7108590 )
1982
108
Porencephaly and cytomegalovirus in a surviving monozygotic twin. ( 6267241 )
1981
109
Pathogenesis of congenital midline porencephaly. ( 7307640 )
1981
110
The origin of porencephaly as demonstrated by sector scan. ( 7349003 )
1981
111
Hypoplasia of the optic nerve in association with porencephaly. ( 7391901 )
1980
112
Porencephaly from periventricular intracerebral hemorrhage in a premature infant. ( 7395828 )
1980
113
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves. ( 551364 )
1979
114
Congenital midline porencephaly: a new brain malformation associated with scalp anomaly. ( 313317 )
1979
115
Bilateral and symmetrical porencephaly in neonates revealed by computerized tomography. ( 506843 )
1979
116
Acquired porencephaly following excision of brain abscess. ( 670752 )
1978
117
Postencephalitic porencephaly, hydranencephaly or polymicrogyria. A review. ( 567000 )
1978
118
Bilateral congenital subdural cysts associated with porencephaly and CSF-subdural fistula. A report of two cases. ( 655911 )
1978
119
Ventral porencephaly: a cerebral defect associated with multiple congenital anomalies. ( 676672 )
1978
120
Detection of porencephaly by cerebral dynamic scanning. ( 738288 )
1978
121
Coxsackie A9 focal encephalitis associated with acute infantile hemiplegia and porencephaly. ( 194171 )
1977
122
Demonstration of a little known cause of infantile epilepsy, occipital porencephaly, by computerized tomography (CT). ( 401048 )
1977
123
Progressive focal deficit with porencephaly. ( 843246 )
1977
124
Computed tomography of porencephaly and other cerebrospinal fluid-containing lesions. ( 847176 )
1977
125
Encephaloclastic porencephaly--postnatal evolution. ( 943493 )
1976
126
Congenital meningioma with subdural hygroma and porencephaly (a case report). ( 1143617 )
1975
127
Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses. ( 1172209 )
1975
128
Porencephaly with microgyria: a pathologic study. ( 4475537 )
1974
129
Congenital porencephaly. ( 4834300 )
1974
130
Perinatal brain damage: porencephaly in a cynomolgous monkey. ( 4201063 )
1973
131
Traumatic porencephaly with growing skull fracture--a case report. ( 4788855 )
1973
132
Animal model for human disease. Hydranencephaly, porencephaly, cerebral cysts, retinal dysplasia, CNS malformations. Animal model: bluetongue-vaccine-virus infection in fetal lambs. ( 4339926 )
1972
133
Porencephaly diagnosed by isotope cisternography. ( 5084135 )
1972
134
Experimental viral-induced congenital encephalopathies. I. Pathology of hydranencephaly and porencephaly caused by bluetongue vaccine virus. ( 5095319 )
1971
135
Porencephaly, nasofrontal mucoceles, hypertelorism and segmental vitiligo--report of a new neurocutaneous disorder. ( 4995925 )
1970
136
Skkull erosion complicating traumatic porencephaly in infancy. ( 5769293 )
1969
137
Congenital cytomegalic inclusion disease with porencephaly. ( 4299112 )
1968
138
Congenital porencephaly. ( 5300893 )
1968
139
Puncture porencephaly. ( 5301286 )
1968
140
Electron microscopic study of experimental porencephaly. ( 5656555 )
1968
141
Puncture porencephaly. Pathogenesis and prevention. ( 4951529 )
1967
142
Porencephaly caused by intracerebral hemorrhage. ( 5297568 )
1967
143
Post-traumatic porencephaly in infancy. A report of three unusual cases. ( 5858443 )
1965
144
PORENCEPHALY SIMULATING SUBDURAL HEMATOMA IN CHILDHOOD. A CLINICAL SYNDROME SECONDARY TO ARTERIAL OCCLUSION. ( 14109490 )
1964
145
PORENCEPHALY; A REVIEW OF THE LITERATURE AND CASE REPORT. ( 14066679 )
1963
146
Intracerebral hemorrhagic cyst versus porencephaly. Report of a case. ( 13772336 )
1961
147
Clinical features of porencephaly; a review of thirty-two cases. ( 13558769 )
1958
148
A case of bilateral posttraumatic porencephaly; a clinico-pathologic study of a microcephalic idiot. ( 13560120 )
1958
149
The relationship between prenatal porencephaly and the encephalomalacias of early life. ( 13588333 )
1958
150
Porencephaly and complicated cerebral palsy. ( 13596005 )
1958
151
Porencephaly. ( 13443071 )
1957
152
The ultimate residual lesions of asphyxia neonatorum; with three cases of porencephaly. ( 14358884 )
1955
153
Porencephaly. ( 13257984 )
1955
154
Encephalocele with porencephaly; a case report. ( 13126733 )
1953
155
Partial agenesis of the corpus collosum with porencephaly. ( 13094902 )
1953
156
Two cases of porencephaly, with special reference to electroencephalography. ( 14872969 )
1951
157
Porencephaly in childhood. ( 14902565 )
1951
158
Porencephaly and cerebral abscess simulating internal hydrocephalus. ( 18142192 )
1949
159
Porencephaly in institutional epileptics. ( 18106819 )
1948
160
Bicycle accident; skull fracture, middle meningeal hemorrhage, cerebral contusion, porencephaly. ( 18921259 )
1947
161
The electroencephalogram in porencephaly. ( 20269880 )
1947
162
Porencephaly; a clinicopathologic study. ( 20993397 )
1946
163
Porencephaly. ( 21000817 )
1946
164
ATROPHY OF THE THALAMUS IN A CASE OF ACQUIRED HEMIPLEGIA ASSOCIATED WITH DIFFUSE PORENCEPHALY AND SCLEROSIS OF THE LEFT CEREBRAL HEMISPHERE. ( 21610971 )
1940
165
Unusual Cortical Potentials in a Case of Porencephaly. ( 19992121 )
1939
166
Porencephaly with Myoclonus and Congenital Heart Lesion. ( 19986820 )
1929

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 (showing 2, show less)
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Porencephaly according to GeneCards Suite gene sharing:

(showing 11, show less)
# 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:

(showing 5, show less)
# 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:

(showing 3, show less)
# 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:

(showing 1, show less)
# 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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