MCID: ACQ029
MIFTS: 27

Acquired Porencephaly

Categories: Fetal diseases, Genetic diseases, Muscle 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 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps. 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 Degradation of the extracellular matrix. 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 77)
# 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 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
3 COL4A1 NM_001845.6(COL4A1):c.*477G>T SNV Uncertain significance 311014 rs886049955 13:110802233-110802233 13:110149886-110149886
4 COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 195868 rs145172612 13:110839625-110839625 13:110187278-110187278
5 COL4A1 NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) SNV Uncertain significance 311072 rs886049962 13:110859764-110859764 13:110207417-110207417
6 COL4A1 NM_001845.6(COL4A1):c.3742+14G>A SNV Uncertain significance 311035 rs377503687 13:110822880-110822880 13:110170533-110170533
7 COL4A1 NM_001845.6(COL4A1):c.*887del Deletion Uncertain significance 311007 rs886049951 13:110801823-110801823 13:110149476-110149476
8 COL4A2 NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) SNV Uncertain significance 311146 rs886049976 13:111125389-111125389 13:110473042-110473042
9 COL4A1 NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) SNV Uncertain significance 311049 rs778143775 13:110829369-110829369 13:110177022-110177022
10 COL4A1 NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) SNV Uncertain significance 311044 rs375787099 13:110827599-110827599 13:110175252-110175252
11 COL4A1 NM_001845.6(COL4A1):c.*510A>G SNV Uncertain significance 311013 rs886049954 13:110802200-110802200 13:110149853-110149853
12 COL4A1 NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) SNV Uncertain significance 311045 rs886049959 13:110828811-110828811 13:110176464-110176464
13 COL4A1 NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) SNV Uncertain significance 311050 rs754208625 13:110830199-110830199 13:110177852-110177852
14 COL4A1 NM_001845.6(COL4A1):c.388-11T>C SNV Uncertain significance 311079 rs201801894 13:110864280-110864280 13:110211933-110211933
15 COL4A2-AS1 NM_001846.4(COL4A2):c.4040-11_4040-8del Microsatellite Uncertain significance 311170 rs756684753 13:111155715-111155718 13:110503368-110503371
16 COL4A1 NM_001845.6(COL4A1):c.*531T>A SNV Uncertain significance 311012 rs886049953 13:110802179-110802179 13:110149832-110149832
17 COL4A1 NM_001845.6(COL4A1):c.-20G>T SNV Uncertain significance 311085 rs886049965 13:110959394-110959394 13:110307047-110307047
18 COL4A1 NM_001845.6(COL4A1):c.2968+12A>G SNV Uncertain significance 311046 rs752476229 13:110828961-110828961 13:110176614-110176614
19 COL4A2 NM_001846.4(COL4A2):c.*413_*414del Deletion Uncertain significance 311204 rs760146256 13:111164951-111164952 13:110512604-110512605
20 COL4A1 NM_001845.6(COL4A1):c.*6C>G SNV Uncertain significance 311018 rs762512053 13:110802704-110802704 13:110150357-110150357
21 COL4A1 NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) SNV Uncertain significance 311061 rs372803920 13:110838771-110838771 13:110186424-110186424
22 COL4A2 NM_001846.4(COL4A2):c.907C>T (p.Leu303=) SNV Uncertain significance 311114 rs886049970 13:111091010-111091010 13:110438663-110438663
23 COL4A1 NM_001845.6(COL4A1):c.280-12C>T SNV Uncertain significance 311082 rs200121908 13:110864977-110864977 13:110212630-110212630
24 COL4A1 NM_001845.6(COL4A1):c.*634_*635AT[8] Microsatellite Uncertain significance 311009 rs886049952 13:110802062-110802063 13:110149715-110149716
25 COL4A1 NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) SNV Uncertain significance 311055 rs781133776 13:110833672-110833672 13:110181325-110181325
26 COL4A1 NM_001845.6(COL4A1):c.-71C>G SNV Uncertain significance 311086 rs867117624 13:110959445-110959445 13:110307098-110307098
27 COL4A1 NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) SNV Uncertain significance 311083 rs886049964 13:110959293-110959293 13:110306946-110306946
28 COL4A1 NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) SNV Uncertain significance 311056 rs150129180 13:110833706-110833706 13:110181359-110181359
29 COL4A1 NM_001845.6(COL4A1):c.4021+14T>A SNV Uncertain significance 311029 rs755709828 13:110818565-110818565 13:110166218-110166218
30 COL4A1 NM_001845.6(COL4A1):c.*265A>G SNV Likely benign 311015 rs555157539 13:110802445-110802445 13:110150098-110150098
31 COL4A1 NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) SNV Likely benign 311019 rs115834242 13:110802779-110802779 13:110150432-110150432
32 COL4A1 NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) SNV Likely benign 311047 rs145018661 13:110828986-110828986 13:110176639-110176639
33 COL4A1 NM_001845.6(COL4A1):c.*176A>G SNV Likely benign 311016 rs11545877 13:110802534-110802534 13:110150187-110150187
34 COL4A1 NM_001845.6(COL4A1):c.4150+3G>A SNV Likely benign 311027 rs545498227 13:110817206-110817206 13:110164859-110164859
35 COL4A1 NM_001845.6(COL4A1):c.651+4_651+5insCAC Insertion Likely benign 311075 rs760194800 13:110861734-110861735 13:110209387-110209388
36 COL4A1 NM_001845.6(COL4A1):c.*766G>A SNV Likely benign 311008 rs371130027 13:110801944-110801944 13:110149597-110149597
37 COL4A2 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040
38 COL4A1 NM_001846.4(COL4A2):c.-101G>A SNV Likely benign 311094 rs528084465 13:110959819-110959819 13:110307472-110307472
39 COL4A1 NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) SNV Likely benign 311032 rs535848796 13:110818628-110818628 13:110166281-110166281
40 COL4A1 NM_001845.6(COL4A1):c.1466-6C>T SNV Likely benign 195811 rs183563055 13:110844637-110844637 13:110192290-110192290
41 COL4A1 NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) SNV Likely benign 311036 rs199557190 13:110823002-110823002 13:110170655-110170655
42 COL4A1 NM_001845.6(COL4A1):c.3326-13dup Duplication Likely benign 311040 rs139122216 13:110826879-110826880 13:110174532-110174533
43 COL4A1 NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) SNV Likely benign 311026 rs200734000 13:110815830-110815830 13:110163483-110163483
44 COL4A1 NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) SNV Likely benign 311067 rs150182714 13:110855918-110855918 13:110203571-110203571
45 COL4A1 NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) SNV Likely benign 311051 rs41275090 13:110830258-110830258 13:110177911-110177911
46 COL4A1 NM_001845.6(COL4A1):c.1000-5T>G SNV Likely benign 311065 rs75711155 13:110853874-110853874 13:110201527-110201527
47 COL4A1 NM_001845.6(COL4A1):c.-103G>A SNV Likely benign 311088 rs538721412 13:110959477-110959477 13:110307130-110307130
48 COL4A1 NM_001845.6(COL4A1):c.*1099G>A SNV Likely benign 311003 rs193065628 13:110801611-110801611 13:110149264-110149264
49 COL4A1 NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) SNV Likely benign 311081 rs138269346 13:110864822-110864822 13:110212475-110212475
50 COL4A1 NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) SNV Likely benign 311052 rs201964644 13:110830413-110830413 13:110178066-110178066

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 PLOD1 COL4A2 COL4A1
2
Show member pathways
12.09 PLOD1 COL4A2 COL4A1
3
Show member pathways
11.72 COL4A2 COL4A1
4
Show member pathways
11.53 COL4A2 COL4A1
5 11.5 COL4A2 COL4A1
6 11.48 COL4A2 COL4A1
7 11.42 COL4A2 COL4A1
8 11.19 COL4A2 COL4A1
9 11.08 COL4A2 COL4A1
10 11.01 COL4A2 COL4A1
11 10.79 COL4A2 COL4A1
12 10.56 COL4A2 COL4A1
13 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 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 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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