MCID: ACQ029
MIFTS: 26

Acquired Porencephaly

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

Aliases & Classifications for Acquired Porencephaly

MalaCards integrated aliases for Acquired Porencephaly:

Name: Acquired Porencephaly 58 29 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 G93.0
UMLS via Orphanet 72 C0151860
Orphanet 58 ORPHA314697

Summaries for Acquired Porencephaly

MalaCards based summary : Acquired Porencephaly is related to porencephaly and familial porencephaly. An important gene associated with Acquired Porencephaly is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Collagen chain trimerization and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain.

Related Diseases for Acquired Porencephaly

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



Diseases related to Acquired Porencephaly

Symptoms & Phenotypes for Acquired Porencephaly

Drugs & Therapeutics for Acquired Porencephaly

Search Clinical Trials , NIH Clinical Center for Acquired Porencephaly

Genetic Tests for Acquired Porencephaly

Genetic tests related to Acquired Porencephaly:

# Genetic test Affiliating Genes
1 Acquired Porencephaly 29

Anatomical Context for Acquired Porencephaly

MalaCards organs/tissues related to Acquired Porencephaly:

40
Brain

Publications for Acquired Porencephaly

Articles related to Acquired Porencephaly:

# Title Authors PMID Year
1
Increased Susceptibility to Postoperative PCA Morphine-Induced Respiratory Depression in a Patient with an Undiagnosed Traumatic Porencephalic Cyst - A Case Report. 61
31161144 2019
2
Porencephaly: computed tomography (CT) scan findings. 61
3581816 1987
3
Acquired porencephaly following excision of brain abscess. 61
670752 1978
4
[Acquired porencephaly, with special reference to a case in a 2-month-old infant]. 61
5304834 1968

Variations for Acquired Porencephaly

ClinVar genetic disease variations for Acquired Porencephaly:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
2 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
4 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
5 COL4A1 NM_001845.6(COL4A1):c.2968+12A>GSNV Conflicting interpretations of pathogenicity 311046 rs752476229 13:110828961-110828961 13:110176614-110176614
6 COL4A1 NM_001845.6(COL4A1):c.1466-6C>TSNV Conflicting interpretations of pathogenicity 195811 rs183563055 13:110844637-110844637 13:110192290-110192290
7 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)SNV Conflicting interpretations of pathogenicity 195868 rs145172612 13:110839625-110839625 13:110187278-110187278
8 COL4A1 NM_001845.6(COL4A1):c.388-11T>CSNV Conflicting interpretations of pathogenicity 311079 rs201801894 13:110864280-110864280 13:110211933-110211933
9 COL4A1 NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)SNV Conflicting interpretations of pathogenicity 311055 rs781133776 13:110833672-110833672 13:110181325-110181325
10 COL4A1 NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)SNV Conflicting interpretations of pathogenicity 311056 rs150129180 13:110833706-110833706 13:110181359-110181359
11 COL4A1 NM_001845.6(COL4A1):c.1000-5T>GSNV Conflicting interpretations of pathogenicity 311065 rs75711155 13:110853874-110853874 13:110201527-110201527
12 COL4A1 NM_001845.6(COL4A1):c.280-12C>TSNV Conflicting interpretations of pathogenicity 311082 rs200121908 13:110864977-110864977 13:110212630-110212630
13 COL4A1 NM_001845.6(COL4A1):c.*1099G>ASNV Conflicting interpretations of pathogenicity 311003 rs193065628 13:110801611-110801611 13:110149264-110149264
14 COL4A1 NM_001845.6(COL4A1):c.*265A>GSNV Conflicting interpretations of pathogenicity 311015 rs555157539 13:110802445-110802445 13:110150098-110150098
15 COL4A1 NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro)SNV Conflicting interpretations of pathogenicity 311061 rs372803920 13:110838771-110838771 13:110186424-110186424
16 COL4A1 NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)SNV Conflicting interpretations of pathogenicity 311044 rs375787099 13:110827599-110827599 13:110175252-110175252
17 COL4A1 NM_001845.6(COL4A1):c.-103G>ASNV Conflicting interpretations of pathogenicity 311088 rs538721412 13:110959477-110959477 13:110307130-110307130
18 COL4A2 NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser)SNV Uncertain significance 311146 rs886049976 13:111125389-111125389 13:110473042-110473042
19 COL4A2 NM_001846.4(COL4A2):c.*413_*414deldeletion Uncertain significance 311204 rs760146256 13:111164951-111164952 13:110512604-110512605
20 COL4A1 NM_001845.6(COL4A1):c.*6C>GSNV Uncertain significance 311018 rs762512053 13:110802704-110802704 13:110150357-110150357
21 COL4A2 NM_001846.4(COL4A2):c.907C>T (p.Leu303=)SNV Uncertain significance 311114 rs886049970 13:111091010-111091010 13:110438663-110438663
22 COL4A1 NM_001845.6(COL4A1):c.-20G>TSNV Uncertain significance 311085 rs886049965 13:110959394-110959394 13:110307047-110307047
23 COL4A1 NM_001845.6(COL4A1):c.*634_*635AT[8]short repeat Uncertain significance 311009 rs886049952 13:110802062-110802063 13:110149715-110149716
24 COL4A1 NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)SNV Uncertain significance 311050 rs754208625 13:110830199-110830199 13:110177852-110177852
25 COL4A1 NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala)SNV Uncertain significance 311072 rs886049962 13:110859764-110859764 13:110207417-110207417
26 COL4A1 NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)SNV Uncertain significance 311083 rs886049964 13:110959293-110959293 13:110306946-110306946
27 COL4A1 NM_001845.6(COL4A1):c.-71C>GSNV Uncertain significance 311086 rs867117624 13:110959445-110959445 13:110307098-110307098
28 COL4A2 NM_001846.4(COL4A2):c.4040-11_4040-8delshort repeat Uncertain significance 311170 rs756684753 13:111155715-111155718 13:110503368-110503371
29 COL4A1 NM_001845.6(COL4A1):c.*887deldeletion Uncertain significance 311007 rs886049951 13:110801823-110801823 13:110149476-110149476
30 COL4A1 NM_001845.6(COL4A1):c.*531T>ASNV Uncertain significance 311012 rs886049953 13:110802179-110802179 13:110149832-110149832
31 COL4A1 NM_001845.6(COL4A1):c.*510A>GSNV Uncertain significance 311013 rs886049954 13:110802200-110802200 13:110149853-110149853
32 COL4A1 NM_001845.6(COL4A1):c.*477G>TSNV Uncertain significance 311014 rs886049955 13:110802233-110802233 13:110149886-110149886
33 COL4A1 NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)SNV Uncertain significance 311049 rs778143775 13:110829369-110829369 13:110177022-110177022
34 COL4A1 NM_001845.6(COL4A1):c.4021+14T>ASNV Uncertain significance 311029 rs755709828 13:110818565-110818565 13:110166218-110166218
35 COL4A1 NM_001845.6(COL4A1):c.3742+14G>ASNV Uncertain significance 311035 rs377503687 13:110822880-110822880 13:110170533-110170533
36 COL4A1 NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)SNV Uncertain significance 311045 rs886049959 13:110828811-110828811 13:110176464-110176464
37 COL4A1 , COL4A2 NM_001845.6(COL4A1):c.-13C>GSNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040
38 COL4A1 NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg)SNV Likely benign 311067 rs150182714 13:110855918-110855918 13:110203571-110203571
39 COL4A1 NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)SNV Likely benign 311081 rs138269346 13:110864822-110864822 13:110212475-110212475
40 COL4A2 NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=)SNV Likely benign 311197 rs150809854 13:111164484-111164484 13:110512137-110512137
41 COL4A1 NM_001845.5(COL4A1):c.*1404T>CSNV Likely benign 369034 rs56406633 13:110801306-110801306 13:110148959-110148959
42 COL4A1 , COL4A2 NM_001846.4(COL4A2):c.-101G>ASNV Likely benign 311094 rs528084465 13:110959819-110959819 13:110307472-110307472
43 COL4A1 NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)SNV Benign/Likely benign 311051 rs41275090 13:110830258-110830258 13:110177911-110177911
44 COL4A1 NM_001845.6(COL4A1):c.4250-12C>TSNV Benign/Likely benign 311025 rs202055679 13:110814801-110814801 13:110162454-110162454
45 COL4A1 NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr)SNV Benign/Likely benign 311026 rs200734000 13:110815830-110815830 13:110163483-110163483
46 COL4A1 NM_001845.6(COL4A1):c.*176A>GSNV Benign/Likely benign 311016 rs11545877 13:110802534-110802534 13:110150187-110150187
47 COL4A1 NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val)SNV Benign/Likely benign 311062 rs200252122 13:110839540-110839540 13:110187193-110187193
48 COL4A1 NM_001845.6(COL4A1):c.651+4_651+5insCACinsertion Benign/Likely benign 311075 rs760194800 13:110861734-110861735 13:110209387-110209388
49 COL4A1 NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)SNV Benign/Likely benign 311019 rs115834242 13:110802779-110802779 13:110150432-110150432
50 COL4A1 NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)SNV Benign/Likely benign 311032 rs535848796 13:110818628-110818628 13:110166281-110166281

Expression for Acquired Porencephaly

Search GEO for disease gene expression data for Acquired Porencephaly.

Pathways for Acquired Porencephaly

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 PLOD1 COL4A2 COL4A1
2
Show member pathways
12.09 COL4A2 COL4A1
3
Show member pathways
12.09 PLOD1 COL4A2 COL4A1
4
Show member pathways
11.72 COL4A2 COL4A1
5
Show member pathways
11.53 COL4A2 COL4A1
6 11.5 COL4A2 COL4A1
7 11.48 COL4A2 COL4A1
8 11.42 COL4A2 COL4A1
9 11.19 COL4A2 COL4A1
10 11.08 COL4A2 COL4A1
11 11.01 COL4A2 COL4A1
12 10.79 COL4A2 COL4A1
13 10.56 COL4A2 COL4A1
14 10.19 COL4A2 COL4A1

GO Terms for Acquired Porencephaly

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

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

Molecular functions related to Acquired 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 Acquired Porencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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