MCID: PRN026
MIFTS: 54

Porencephaly

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

Aliases & Classifications for Porencephaly

MalaCards integrated aliases for Porencephaly:

Name: Porencephaly 12 73 20 53 58 36 54 44 15

Characteristics:

Orphanet epidemiological data:

58
porencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (United States),1-9/100000 (Japan); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060263
KEGG 36 H00839
MeSH 44 D065708
SNOMED-CT 67 38353004 698837003
ICD10 32 Q04.6
ICD10 via Orphanet 33 Q04.6
UMLS via Orphanet 71 C0302892
Orphanet 58 ORPHA2940
UMLS 70 C0302892 C1867983 C3698507

Summaries for Porencephaly

GARD : 20 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 brain small vessel disease 1 with or without ocular anomalies and familial porencephaly. 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 drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include brain, skin and temporal lobe, and related phenotypes are spasticity and ventriculomegaly

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

NINDS : 53 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.

KEGG : 36 Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages.

Wikipedia : 73 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 223)
# Related Disease Score Top Affiliating Genes
1 brain small vessel disease 1 with or without ocular anomalies 33.2 COL4A2 COL4A1
2 familial porencephaly 33.1 COL4A2-AS2 COL4A2-AS1 COL4A2 COL4A1
3 brain small vessel disease 2 32.9 COL4A2-AS2 COL4A2-AS1 COL4A2
4 acquired porencephaly 32.4 PLOD1 COL4A2-AS1 COL4A2 COL4A1
5 schizencephaly 30.8 MTHFR F5 EMX2 COL4A1
6 cerebral palsy 30.6 MTHFR L1CAM F5 F2 COL4A1
7 thrombophilia 30.6 MTHFR F5 F2
8 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 30.6 COL4A2 COL4A1
9 thrombophilia due to activated protein c resistance 30.5 MTHFR F5 F2
10 thrombophlebitis 30.2 MTHFR F5 F2
11 thrombasthenia 30.2 MTHFR F5 F2
12 protein s deficiency 30.2 MTHFR F5 F2
13 protein c deficiency 30.2 MTHFR F5 F2
14 col4a1-related familial vascular leukoencephalopathy 30.2 COL4A2 COL4A1
15 cataract 30.2 MTHFR CRYGA CRYBA4 CRYAA COL4A4 COL4A1
16 intracranial hypertension 30.2 MTHFR F5 F2
17 cerebrovascular disease 30.1 MTHFR F5 F2 COL4A1
18 porencephaly, cerebellar hypoplasia, and internal malformations 11.3
19 brain small vessel disease 3 11.1
20 bamforth syndrome 11.1
21 hydranencephaly 11.0
22 coloboma porencephaly hydronephrosis 11.0
23 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.9
24 oculocerebrocutaneous syndrome 10.9
25 neuronal migration disorders 10.9
26 malignant cylindroma 10.5 COL4A5 COL4A1
27 paracetamol poisoning 10.5 F5 F2
28 amaurosis fugax 10.5 MTHFR F5
29 lateral sinus thrombosis 10.5 MTHFR F2
30 aspirin resistance 10.5 F5 F2
31 prothrombin thrombophilia 10.5 MTHFR F2
32 lemierre's syndrome 10.4 MTHFR F2
33 livedoid vasculitis 10.4 MTHFR F2
34 spinal cord infarction 10.4 MTHFR F5 F2
35 sudden sensorineural hearing loss 10.4 MTHFR F5 F2
36 arteritic anterior ischemic optic neuropathy 10.4 MTHFR F5 F2
37 cerebral sinovenous thrombosis 10.4 MTHFR F5 F2
38 cryptogenic cirrhosis 10.4 MTHFR F5 F2
39 catastrophic antiphospholipid syndrome 10.4 MTHFR F5
40 intracranial sinus thrombosis 10.4 MTHFR F2
41 beta-thalassemia major 10.4 MTHFR F5 F2
42 intracranial thrombosis 10.4 MTHFR F5 F2
43 spastic hemiplegia 10.4 MTHFR COL4A1
44 branch retinal artery occlusion 10.4 MTHFR F2 CRYAA
45 central retinal vein occlusion 10.4 MTHFR F5 F2
46 central retinal artery occlusion 10.4 MTHFR F2 CRYAA
47 retinal vein occlusion 10.4 MTHFR F5 F2
48 antithrombin iii deficiency 10.4 MTHFR F5 F2
49 gastroschisis 10.4 MTHFR F5 F2
50 pulmonary artery disease 10.4 MTHFR F5 F2

Graphical network of the top 20 diseases related to Porencephaly:



Diseases related to Porencephaly

Symptoms & Phenotypes for Porencephaly

Human phenotypes related to Porencephaly:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
3 porencephalic cyst 31 hallmark (90%) HP:0002132
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
6 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
7 seizure 31 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COLGALT1
2 mortality/aging MP:0010768 10.1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COLGALT1
3 cardiovascular system MP:0005385 10.07 COL4A1 COL4A2 COL4A3 COL4A5 EMX2 F2
4 nervous system MP:0003631 9.9 COL4A1 COL4A2 COLGALT1 EMX2 F2 F5
5 skeleton MP:0005390 9.61 COL4A2 COLGALT1 EMX2 F2 HSPG2 L1CAM
6 vision/eye MP:0005391 9.36 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

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:

40
Brain, Skin, Temporal Lobe, Eye, Cortex, Fetal Brain, Cerebellum

Publications for Porencephaly

Articles related to Porencephaly:

(show top 50) (show all 567)
# Title Authors PMID Year
1
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 6 54 61
19194877 2009
2
Prenatal clinical manifestations in individuals with COL4A1/2 variants. 6 61
32732225 2020
3
Further refinement of COL4A1 and COL4A2 related cortical malformations. 61 6
30315939 2018
4
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 6 61
23225343 2013
5
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 61 6
23065703 2013
6
COL4A2 mutation associated with familial porencephaly and small-vessel disease. 6 61
22333902 2012
7
Childhood presentation of COL4A1 mutations. 6 61
22574627 2012
8
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 61 6
22209246 2012
9
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 6 61
16107487 2006
10
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 6 61
15905400 2005
11
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. 61 6
15136694 2004
12
Hereditary porencephaly: clinical and MRI findings in two Dutch families. 61 6
15023374 2004
13
Familial porencephalic white matter disease in two generations. 61 6
6428250 1984
14
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 6
28017902 2017
15
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
16
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 6
24628545 2014
17
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 6
23394911 2013
18
Ophthalmological features associated with COL4A1 mutations. 6
20385946 2010
19
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 6
17696175 2007
20
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 6
16598045 2006
21
Hereditary diseases of the eye in a study of blind and partially sighted. 6
7257746 1981
22
[Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. 54 61
19238787 2008
23
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 61 54
17379824 2007
24
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. 61
33709034 2021
25
Porencephaly causing limb size asymmetry. 61
33728580 2021
26
Novel COL4A2 mutation causing familial malformations of cortical development. 61
33577044 2021
27
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly. 61
33292033 2020
28
"I Do not know them" - Capgras syndrome associated with porencephaly and agenesis of the Splenium. 61
32653846 2020
29
Neuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood. 61
33136527 2020
30
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. 61
33298904 2020
31
The spectrum of brain malformations and disruptions in twins. 61
33205886 2020
32
Porencephaly and Intracranial Calcifications in a Neonate. 61
33004666 2020
33
Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation. 61
32706613 2020
34
Phenotypic characterization of COL4A1-related West syndrome. 61
32446163 2020
35
Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report. 61
32756128 2020
36
COL4A1 and COL4A2 mutations: when to test a fetus? 61
32515830 2020
37
Risk factors and results of hemispherotomy reoperations in children. 61
32234979 2020
38
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report. 61
31808207 2020
39
Surgical management of pediatric patients with encephalopathy due to electrical status epilepticus during sleep (ESES). 61
32043470 2020
40
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia. 61
33013618 2020
41
Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures. 61
31762865 2020
42
Life-threatening muscle complications of COL4A1-related disorder. 61
31540749 2020
43
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. 61
32040484 2020
44
COL4A1 MUTATIONS IN TWO INFANTS WITH CONGENITAL CATARACTS AND PORENCEPHALY: AN OPHTHALMOLOGIC PERSPECTIVE. 61
31525464 2019
45
A case of left congenital homonymous hemianopia associated with right occipital porencephaly. 61
31564367 2019
46
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 61
31230195 2019
47
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 61
31966034 2019
48
COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. 61
31128271 2019
49
Asymmetry of the bilateral bispectral index in a hemiparetic patient with porencephaly. 61
30594096 2019
50
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program. 61
31331924 2019

Variations for Porencephaly

ClinVar genetic disease variations for Porencephaly:

6 (show top 50) (show all 417)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) SNV Pathogenic 17412 rs113994112 GRCh37: 13:110822930-110822930
GRCh38: 13:110170583-110170583
2 COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) SNV Pathogenic 17414 rs121912857 GRCh37: 13:110839528-110839528
GRCh38: 13:110187181-110187181
3 COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) SNV Pathogenic 17415 rs113994103 GRCh37: 13:110959374-110959374
GRCh38: 13:110307027-110307027
4 COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) SNV Pathogenic 17416 rs113994111 GRCh37: 13:110826810-110826810
GRCh38: 13:110174463-110174463
5 COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) SNV Pathogenic 17417 rs113994113 GRCh37: 13:110814772-110814772
GRCh38: 13:110162425-110162425
6 COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) SNV Pathogenic 17422 rs113994114 GRCh37: 13:110807647-110807647
GRCh38: 13:110155300-110155300
7 COL4A2 NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) SNV Pathogenic 29627 rs387906602 GRCh37: 13:111144417-111144417
GRCh38: 13:110492070-110492070
8 COL4A2 NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) SNV Pathogenic 29628 rs387906603 GRCh37: 13:111138086-111138086
GRCh38: 13:110485739-110485739
9 COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) SNV Pathogenic 132791 rs587777379 GRCh37: 13:110818624-110818624
GRCh38: 13:110166277-110166277
10 COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs) Deletion Pathogenic 161440 rs606231464 GRCh37: 13:110835350-110835350
GRCh38: 13:110183003-110183003
11 COL4A1 NM_001845.6(COL4A1):c.2194-1G>A SNV Pathogenic 161441 rs606231465 GRCh37: 13:110831769-110831769
GRCh38: 13:110179422-110179422
12 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 GRCh37: 13:110831699-110831699
GRCh38: 13:110179352-110179352
13 COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 GRCh37: 13:110831645-110831645
GRCh38: 13:110179298-110179298
14 COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 GRCh37: 13:110804728-110804728
GRCh38: 13:110152381-110152381
15 COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 GRCh37: 13:110833710-110833710
GRCh38: 13:110181363-110181363
16 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) SNV Pathogenic 440782 rs1555302922 GRCh37: 13:110827659-110827659
GRCh38: 13:110175312-110175312
17 COL4A2 NM_001846.4(COL4A2):c.316-1G>C SNV Pathogenic 560985 rs1566525717 GRCh37: 13:111077299-111077299
GRCh38: 13:110424952-110424952
18 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 GRCh37: 13:110833673-110833673
GRCh38: 13:110181326-110181326
19 COL4A2-AS1 , COL4A2 NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg) SNV Pathogenic 689504 rs1594113653 GRCh37: 13:111155819-111155819
GRCh38: 13:110503472-110503472
20 COL4A1 NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) SNV Pathogenic 982405 GRCh37: 13:110804766-110804766
GRCh38: 13:110152419-110152419
21 COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 GRCh37: 13:110831717-110831717
GRCh38: 13:110179370-110179370
22 COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) Duplication Pathogenic 807559 rs1594568948 GRCh37: 13:110847397-110847398
GRCh38: 13:110195050-110195051
23 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 389182 rs1057523354 GRCh37: 13:110831734-110831734
GRCh38: 13:110179387-110179387
24 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1776+1G>A SNV Pathogenic 265530 rs886039602 GRCh37: 13:111114732-111114732
GRCh38: 13:110462385-110462385
25 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1395del (p.Gly466fs) Deletion Pathogenic 997477 GRCh37: 13:111109743-111109743
GRCh38: 13:110457396-110457396
26 COL4A1 NM_001845.6(COL4A1):c.2458+1G>A SNV Pathogenic 1027961 GRCh37: 13:110831269-110831269
GRCh38: 13:110178922-110178922
27 COL4A1 NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) SNV Pathogenic 1027966 GRCh37: 13:110804722-110804722
GRCh38: 13:110152375-110152375
28 COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Pathogenic 135653 rs587780588 GRCh37: 13:110835349-110835349
GRCh38: 13:110183002-110183002
29 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1432+247C>G SNV Pathogenic 1032009 GRCh37: 13:111110029-111110029
GRCh38: 13:110457682-110457682
30 COL4A1 NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) SNV Likely pathogenic 1027965 GRCh37: 13:110822082-110822082
GRCh38: 13:110169735-110169735
31 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Likely pathogenic 209141 rs797045034 GRCh37: 13:110830243-110830243
GRCh38: 13:110177896-110177896
32 COL4A2 NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) SNV Likely pathogenic 807561 rs1594088780 GRCh37: 13:111117831-111117831
GRCh38: 13:110465484-110465484
33 COL4A1 NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) SNV Likely pathogenic 976758 GRCh37: 13:110826987-110826987
GRCh38: 13:110174640-110174640
34 COL4A1 NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) SNV Likely pathogenic 978038 GRCh37: 13:110831278-110831278
GRCh38: 13:110178931-110178931
35 COL4A1 NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) SNV Likely pathogenic 983450 GRCh37: 13:110827077-110827077
GRCh38: 13:110174730-110174730
36 COL4A1 NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) SNV Likely pathogenic 982414 GRCh37: 13:110825067-110825067
GRCh38: 13:110172720-110172720
37 COL4A1 NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) SNV Likely pathogenic 992987 GRCh37: 13:110828813-110828813
GRCh38: 13:110176466-110176466
38 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) Deletion Likely pathogenic 827790 rs1594566751 GRCh37: 13:110845180-110845180
GRCh38: 13:110192833-110192833
39 COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 GRCh37: 13:110829259-110829259
GRCh38: 13:110176912-110176912
40 COL4A2 NM_001846.4(COL4A2):c.2902+1G>A SNV Likely pathogenic 864858 GRCh37: 13:111135007-111135007
GRCh38: 13:110482660-110482660
41 COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 GRCh37: 13:110835357-110835357
GRCh38: 13:110183010-110183010
42 COL4A2-AS1 , COL4A2 NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) SNV Likely pathogenic 208773 rs797044947 GRCh37: 13:111156202-111156202
GRCh38: 13:110503855-110503855
43 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Conflicting interpretations of pathogenicity 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
44 COL4A1 NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) SNV Uncertain significance 977158 GRCh37: 13:110822020-110822020
GRCh38: 13:110169673-110169673
45 COL4A1 NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) SNV Uncertain significance 883090 GRCh37: 13:110813588-110813588
GRCh38: 13:110161241-110161241
46 COL4A1 NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) SNV Uncertain significance 1027962 GRCh37: 13:110827686-110827686
GRCh38: 13:110175339-110175339
47 COL4A1 NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) SNV Uncertain significance 596811 rs1566349683 GRCh37: 13:110826841-110826841
GRCh38: 13:110174494-110174494
48 COL4A2 NM_001846.4(COL4A2):c.3179C>T (p.Thr1060Met) SNV Uncertain significance 977098 GRCh37: 13:111138155-111138155
GRCh38: 13:110485808-110485808
49 COL4A2 NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) SNV Uncertain significance 311198 rs747313370 GRCh37: 13:111164510-111164510
GRCh38: 13:110512163-110512163
50 COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 GRCh37: 13:110835342-110835342
GRCh38: 13:110182995-110182995

Expression for Porencephaly

Search GEO for disease gene expression data for Porencephaly.

Pathways for Porencephaly

Pathways related to Porencephaly according to KEGG:

36
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 HSPG2 F2 COL4A5 COL4A4 COL4A3 COL4A2
2
Show member pathways
12.94 HSPG2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3
Show member pathways
12.83 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
4
Show member pathways
12.76 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5 12.71 F2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6
Show member pathways
12.54 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7
Show member pathways
12.45 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
8
Show member pathways
12.26 PLOD1 HSPG2 COLGALT2 COLGALT1 COL4A5 COL4A4
9
Show member pathways
12.07 HSPG2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
10
Show member pathways
12.05 PLOD1 F5 F2 COLGALT2 COLGALT1 COL4A5
11 11.88 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
12 11.85 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
13 11.79 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
14 11.62 COL4A5 COL4A4 COL4A3
15 11.55 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
16 11.53 PLOD1 COLGALT2 COLGALT1
17 11.42 F2 COL4A2 COL4A1
18 11.41 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
19 11.26 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
20 11.12 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
21 10.9 HSPG2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

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 10.06 OFD1 HSPG2 F5 F2 COL4A5 COL4A4
2 extracellular space GO:0005615 10.03 HSPG2 F5 F2 COL4A5 COL4A4 COL4A3
3 collagen-containing extracellular matrix GO:0062023 9.86 L1CAM HSPG2 F2 COL4A5 COL4A4 COL4A3
4 extracellular matrix GO:0031012 9.77 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
5 collagen trimer GO:0005581 9.72 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
6 basement membrane GO:0005604 9.63 HSPG2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
7 endoplasmic reticulum lumen GO:0005788 9.61 F5 F2 COLGALT2 COLGALT1 COL4A5 COL4A4
8 collagen type IV trimer GO:0005587 9.02 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.43 HSPG2 COL4A3 COL4A2
2 extracellular matrix organization GO:0030198 9.43 HSPG2 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
3 glomerular basement membrane development GO:0032836 9.16 COL4A4 COL4A3
4 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.92 COL4A5 COL4A3 COL4A2 COL4A1

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 9.35 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1
2 structural constituent of eye lens GO:0005212 9.33 CRYGA CRYBA4 CRYAA
3 procollagen galactosyltransferase activity GO:0050211 9.26 COLGALT2 COLGALT1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL4A5 COL4A4 COL4A3 COL4A2 COL4A1

Sources for Porencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....