MCID: FML084
MIFTS: 38

Familial Porencephaly

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

Aliases & Classifications for Familial Porencephaly

MalaCards integrated aliases for Familial Porencephaly:

Name: Familial Porencephaly 20 43 58 29
Familial Porencephalic White Matter Disease 20
Autosomal Dominant Porencephaly Type 1 43
Infantile Hemiplegia with Porencephaly 43
Autosomal Dominant Type 1 Porencephaly 6
Porencephaly, Familial 70
Porencephaly Type 1 43

Characteristics:

Orphanet epidemiological data:

58
familial porencephaly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C536850
ICD10 via Orphanet 33 Q04.6
UMLS via Orphanet 71 C1867983
Orphanet 58 ORPHA99810
UMLS 70 C1867983

Summaries for Familial Porencephaly

MedlinePlus Genetics : 43 Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the brain (porencephaly) during fetal development or soon after birth. These cysts typically occur in only one side of the brain and vary in size. The cysts are thought to be the result of bleeding within the brain (hemorrhagic stroke). People with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).During infancy, people with familial porencephaly typically have paralysis affecting one side of the body (infantile hemiplegia). Affected individuals may also have recurrent seizures (epilepsy), migraine headaches, speech problems, intellectual disability, and uncontrolled muscle tensing (dystonia). Some people are severely affected, and others may have no symptoms related to the brain cysts.

MalaCards based summary : Familial Porencephaly, also known as familial porencephalic white matter disease, is related to porencephaly and brain small vessel disease 1 with or without ocular anomalies, and has symptoms including seizures, hemiplegia and muscle spasticity. An important gene associated with Familial Porencephaly is COL4A2 (Collagen Type IV Alpha 2 Chain), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and ECM-receptor interaction. Affiliated tissues include brain and eye.

Wikipedia : 73 Autosomal dominant porencephaly type I is a rare type of porencephaly that causes cysts to grow on the... more...

Related Diseases for Familial Porencephaly

Graphical network of the top 20 diseases related to Familial Porencephaly:



Diseases related to Familial Porencephaly

Symptoms & Phenotypes for Familial Porencephaly

UMLS symptoms related to Familial Porencephaly:


seizures; hemiplegia; muscle spasticity; dystonia, limb; facial paresis; abnormal pyramidal signs; quadriparesis

Drugs & Therapeutics for Familial Porencephaly

Search Clinical Trials , NIH Clinical Center for Familial Porencephaly

Genetic Tests for Familial Porencephaly

Genetic tests related to Familial Porencephaly:

# Genetic test Affiliating Genes
1 Familial Porencephaly 29

Anatomical Context for Familial Porencephaly

MalaCards organs/tissues related to Familial Porencephaly:

40
Brain, Eye

Publications for Familial Porencephaly

Articles related to Familial Porencephaly:

(show all 33)
# Title Authors PMID Year
1
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 6 61
23225343 2013
2
COL4A2 mutation associated with familial porencephaly and small-vessel disease. 6 61
22333902 2012
3
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 6 61
16107487 2006
4
Hereditary porencephaly: clinical and MRI findings in two Dutch families. 61 6
15023374 2004
5
Prenatal clinical manifestations in individuals with COL4A1/2 variants. 6
32732225 2020
6
Further refinement of COL4A1 and COL4A2 related cortical malformations. 6
30315939 2018
7
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 6
28017902 2017
8
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
9
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 6
24628545 2014
10
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 6
23394911 2013
11
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 6
23065703 2013
12
Childhood presentation of COL4A1 mutations. 6
22574627 2012
13
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 6
22209246 2012
14
Ophthalmological features associated with COL4A1 mutations. 6
20385946 2010
15
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 6
19194877 2009
16
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 6
17696175 2007
17
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 6
16598045 2006
18
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 6
15905400 2005
19
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. 6
15136694 2004
20
Familial porencephalic white matter disease in two generations. 6
6428250 1984
21
Hereditary diseases of the eye in a study of blind and partially sighted. 6
7257746 1981
22
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia. 61
33013618 2020
23
Fetal intracerebral hemorrhage and cataract: think COL4A1. 61
24374867 2014
24
A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations? 61
22876576 2012
25
Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. 61
21500141 2011
26
Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume. 61
20056676 2010
27
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 61
19949034 2009
28
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. 61
12244556 2002
29
Familial porencephaly. 61
8253500 1993
30
[Congenital familial hemiparesis and familial porencephaly]. 61
1456633 1992
31
Familial porencephaly. 61
2282721 1990
32
Familial porencephaly and congenital hemiplegia. 61
3761085 1986
33
Familial porencephaly. 61
6615288 1983

Variations for Familial Porencephaly

ClinVar genetic disease variations for Familial 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.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 GRCh37: 13:110831645-110831645
GRCh38: 13:110179298-110179298
13 COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 GRCh37: 13:110804728-110804728
GRCh38: 13:110152381-110152381
14 COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 GRCh37: 13:110833710-110833710
GRCh38: 13:110181363-110181363
15 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 GRCh37: 13:110831699-110831699
GRCh38: 13:110179352-110179352
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 COL4A1 NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) SNV Pathogenic 982405 GRCh37: 13:110804766-110804766
GRCh38: 13:110152419-110152419
20 COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 GRCh37: 13:110831717-110831717
GRCh38: 13:110179370-110179370
21 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 389182 rs1057523354 GRCh37: 13:110831734-110831734
GRCh38: 13:110179387-110179387
22 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1776+1G>A SNV Pathogenic 265530 rs886039602 GRCh37: 13:111114732-111114732
GRCh38: 13:110462385-110462385
23 COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) Duplication Pathogenic 807559 rs1594568948 GRCh37: 13:110847397-110847398
GRCh38: 13:110195050-110195051
24 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1395del (p.Gly466fs) Deletion Pathogenic 997477 GRCh37: 13:111109743-111109743
GRCh38: 13:110457396-110457396
25 COL4A1 NM_001845.6(COL4A1):c.2458+1G>A SNV Pathogenic 1027961 GRCh37: 13:110831269-110831269
GRCh38: 13:110178922-110178922
26 COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Pathogenic 135653 rs587780588 GRCh37: 13:110835349-110835349
GRCh38: 13:110183002-110183002
27 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1432+247C>G SNV Pathogenic 1032009 GRCh37: 13:111110029-111110029
GRCh38: 13:110457682-110457682
28 COL4A1 NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) SNV Pathogenic 1027966 GRCh37: 13:110804722-110804722
GRCh38: 13:110152375-110152375
29 COL4A2-AS1 , COL4A2 NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg) SNV Pathogenic 689504 rs1594113653 GRCh37: 13:111155819-111155819
GRCh38: 13:110503472-110503472
30 COL4A1 NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) SNV Likely pathogenic 983450 GRCh37: 13:110827077-110827077
GRCh38: 13:110174730-110174730
31 COL4A1 NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) SNV Likely pathogenic 978038 GRCh37: 13:110831278-110831278
GRCh38: 13:110178931-110178931
32 COL4A1 NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) SNV Likely pathogenic 1027965 GRCh37: 13:110822082-110822082
GRCh38: 13:110169735-110169735
33 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Likely pathogenic 209141 rs797045034 GRCh37: 13:110830243-110830243
GRCh38: 13:110177896-110177896
34 COL4A2 NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) SNV Likely pathogenic 807561 rs1594088780 GRCh37: 13:111117831-111117831
GRCh38: 13:110465484-110465484
35 COL4A1 NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) SNV Likely pathogenic 976758 GRCh37: 13:110826987-110826987
GRCh38: 13:110174640-110174640
36 COL4A1 NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) SNV Likely pathogenic 992987 GRCh37: 13:110828813-110828813
GRCh38: 13:110176466-110176466
37 COL4A1 NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) SNV Likely pathogenic 982414 GRCh37: 13:110825067-110825067
GRCh38: 13:110172720-110172720
38 COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 GRCh37: 13:110835357-110835357
GRCh38: 13:110183010-110183010
39 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
40 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) Deletion Likely pathogenic 827790 rs1594566751 GRCh37: 13:110845180-110845180
GRCh38: 13:110192833-110192833
41 COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 GRCh37: 13:110829259-110829259
GRCh38: 13:110176912-110176912
42 COL4A2 NM_001846.4(COL4A2):c.2902+1G>A SNV Likely pathogenic 864858 GRCh37: 13:111135007-111135007
GRCh38: 13:110482660-110482660
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 COL4A2 NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) SNV Uncertain significance 311198 rs747313370 GRCh37: 13:111164510-111164510
GRCh38: 13:110512163-110512163
47 COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 GRCh37: 13:110835342-110835342
GRCh38: 13:110182995-110182995
48 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 195868 rs145172612 GRCh37: 13:110839625-110839625
GRCh38: 13:110187278-110187278
49 COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 GRCh37: 13:110959368-110959368
GRCh38: 13:110307021-110307021
50 COL4A2-AS2 , COL4A2 NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) SNV Uncertain significance 311132 rs766981913 GRCh37: 13:111114693-111114693
GRCh38: 13:110462346-110462346

Expression for Familial Porencephaly

Search GEO for disease gene expression data for Familial Porencephaly.

Pathways for Familial Porencephaly

Pathways related to Familial Porencephaly according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 COL4A2 COL4A1
2
Show member pathways
11.69 COL4A2 COL4A1
3
Show member pathways
11.49 COL4A2 COL4A1
4 11.47 COL4A2 COL4A1
5 11.43 COL4A2 COL4A1
6 11.37 COL4A2 COL4A1
7 11.15 COL4A2 COL4A1
8 11.03 COL4A2 COL4A1
9 10.95 COL4A2 COL4A1
10 10.79 COL4A2 COL4A1
11 10.56 COL4A2 COL4A1
12 10.19 COL4A2 COL4A1

GO Terms for Familial Porencephaly

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

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.16 COL4A2 COL4A1
2 collagen trimer GO:0005581 8.96 COL4A2 COL4A1
3 collagen type IV trimer GO:0005587 8.62 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL4A2 COL4A1
2 angiogenesis GO:0001525 8.96 COL4A2 COL4A1
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A2 COL4A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A2 COL4A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A2 COL4A1

Sources for Familial 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
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