PPAP
MCID: PLY138
MIFTS: 28

Polymerase Proofreading-Related Adenomatous Polyposis (PPAP)

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards integrated aliases for Polymerase Proofreading-Related Adenomatous Polyposis:

Name: Polymerase Proofreading-Related Adenomatous Polyposis 58
Ppap 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 33 D12.6
Orphanet 58 ORPHA447877

Summaries for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards based summary : Polymerase Proofreading-Related Adenomatous Polyposis, also known as ppap, is related to spastic paraplegia, intellectual disability, nystagmus, and obesity and hemosiderosis. An important gene associated with Polymerase Proofreading-Related Adenomatous Polyposis is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit), and among its related pathways/superpathways are Telomere C-strand (Lagging Strand) Synthesis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include colon, brain and breast, and related phenotypes are adenomatous colonic polyposis and endometrial carcinoma

Related Diseases for Polymerase Proofreading-Related Adenomatous Polyposis

Diseases related to Polymerase Proofreading-Related Adenomatous Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.9
2 hemosiderosis 9.9
3 arthropathy 9.9
4 rare hereditary hemochromatosis 9.9
5 attenuated familial adenomatous polyposis 9.7 POLE POLD1
6 rectosigmoid cancer 9.7 POLE POLD1
7 hereditary mixed polyposis syndrome 9.7 POLE POLD1
8 familial colorectal cancer 9.7 POLE POLD1
9 melanoma, cutaneous malignant 1 9.6 POLE POLD1
10 cowden syndrome 9.6 POLE POLD1
11 lynch syndrome 9.5 POLE POLD1

Graphical network of the top 20 diseases related to Polymerase Proofreading-Related Adenomatous Polyposis:



Diseases related to Polymerase Proofreading-Related Adenomatous Polyposis

Symptoms & Phenotypes for Polymerase Proofreading-Related Adenomatous Polyposis

Human phenotypes related to Polymerase Proofreading-Related Adenomatous Polyposis:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0005227
2 endometrial carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0012114
3 colorectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200063
4 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
5 brain neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030692
6 adenocarcinoma of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0040276
7 neoplasm of the rectum 58 Occasional (29-5%)

Drugs & Therapeutics for Polymerase Proofreading-Related Adenomatous Polyposis

Search Clinical Trials , NIH Clinical Center for Polymerase Proofreading-Related Adenomatous Polyposis

Genetic Tests for Polymerase Proofreading-Related Adenomatous Polyposis

Anatomical Context for Polymerase Proofreading-Related Adenomatous Polyposis

MalaCards organs/tissues related to Polymerase Proofreading-Related Adenomatous Polyposis:

40
Colon, Brain, Breast, Placenta, Cortex, Cerebellum, Endothelial

Publications for Polymerase Proofreading-Related Adenomatous Polyposis

Articles related to Polymerase Proofreading-Related Adenomatous Polyposis:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Annulative Methods in the Synthesis of Complex Meroterpene Natural Products. 61
33448794 2021
2
Two new seco-polycyclic polyprenylated acylphloroglucinol from Hypericum sampsonii. 61
33180084 2021
3
Polycyclic polyprenylated acylphloroglucinol derivatives with neuroprotective effects from Hypericum monogynum. 61
31838892 2021
4
Combination of positional therapy with positive airway pressure for titration in patients with difficult to treat obstructive sleep apnea. 61
33486667 2021
5
Mucus-penetrating PEGylated polysuccinimide-based nanocarrier for intravaginal delivery of siRNA battling sexually transmitted infections. 61
32768985 2020
6
A Photoalkylative Fluorogenic Probe of Guttiferone A for Live Cell Imaging and Proteome Labeling in Plasmodium falciparum. 61
33158263 2020
7
Longisglucinols A-C, Structurally Intriguing Polycyclic Polyprenylated Acylphloroglucinols with Anti-inflammatory Activity from Hypericum longistylum. 61
33002355 2020
8
Hyperfols A and B: Two Highly Modified Polycyclic Polyprenylated Acylphloroglucinols from Hypericum perforatum. 61
32822200 2020
9
Structural Revision of Garcinielliptin Oxide and Garcinielliptone E. 61
32496059 2020
10
Response to the correspondence referring to our article "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient" by Pilar Mur, Claire Palles, Ian Tomlinson, Laura Valle. 61
32246048 2020
11
Reply to: "Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient". 61
31822785 2020
12
The Influence of Physicians' Physical Activity Prescription on Indicators of Health Service Quality. 61
32604131 2020
13
Risk Assessment of African Swine Fever Virus Exposure to Sus scrofa in Japan Via Pork Products Brought in Air Passengers' Luggage. 61
32326040 2020
14
An update on the CNS manifestations of brain tumor polyposis syndromes. 61
31970492 2020
15
An atlas of evidence-based phenotypic associations across the mouse phenome. 61
32127602 2020
16
Quantitative risk assessment of African swine fever virus introduction to Japan via pork products brought in air passengers' luggage. 61
31692238 2020
17
The Natural Compound Oblongifolin C Exhibits Anticancer Activity by Inhibiting HSPA8 and Cathepsin B In Vitro. 61
33390942 2020
18
[Development and application of the plant phenomics analysis platform]. 61
31735708 2019
19
Studies of selective digestive decontamination as a natural experiment to evaluate topical antibiotic prophylaxis and cephalosporin use as population-level risk factors for enterococcal bacteraemia among ICU patients. 61
31355880 2019
20
Human neutrophil elastase (HNE) inhibitory polyprenylated acylphloroglucinols from the flowers of Hypericum ascyron. 61
31254671 2019
21
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient. 61
31089268 2019
22
Regiodivergent Photocyclization of Dearomatized Acylphloroglucinols: Asymmetric Syntheses of (-)-Nemorosone and (-)-6-epi-Garcimultiflorone A. 61
31264859 2019
23
PPAP: Perspective Projection Augment Platform with Pan-Tilt Actuation for Improved Spatial Perception. 61
31212748 2019
24
Hypermongone C Accelerates Wound Healing through the Modulation of Inflammatory Factors and Promotion of Fibroblast Migration. 61
31137844 2019
25
Synthesis and evaluation of tetrahydroquinolin-2(1H)-one derivatives as novel anti-pancreatic cancer agents via targeting autophagy. 61
30878830 2019
26
Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma. 61
30368636 2019
27
The role of inherited genetic variants in colorectal polyposis syndromes. 61
30904095 2019
28
The Polycyclic Polyprenylated Acylphloroglucinol Antibiotic PPAP 23 Targets the Membrane and Iron Metabolism in Staphylococcus aureus. 61
30728811 2019
29
Synthesis of novel guttiferone E and xanthochymol derivatives with cytotoxicities by inducing cell apoptosis and arresting the cell cycle phase. 61
30500683 2019
30
Polycyclic Polyprenylated Acylphloroglucinol Derivatives from Hypericum acmosepalum. 61
30583604 2018
31
Bioactive polycyclic polyprenylated acylphloroglucinols from Hypericum perforatum. 61
30334059 2018
32
Foot reconstruction using a free proximal peroneal artery perforator flap: Anatomical study and clinical application. 61
29525363 2018
33
Research Progress of Polycyclic Polyprenylated Acylphloroglucinols. 61
29461053 2018
34
A novel scoring system for predicting adherent placenta in women with placenta previa. 61
29626978 2018
35
Presaturation Power Adjusted Pulsed CEST: A Method to Increase Independence of Target CEST Signals. 61
29853805 2018
36
Polycyclic Polyprenylated Acylphloroglucinols: An Emerging Class of Non-Peptide-Based MRSA- and VRE-Active Antibiotics. 61
28985019 2017
37
Discriminating the reaction types of plant type III polyketide synthases. 61
28334262 2017
38
[Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis]. 61
28474162 2017
39
The genetic basis of colonic adenomatous polyposis syndromes. 61
28331556 2017
40
Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. 61
27705013 2016
41
Cambogin exerts anti-proliferative and pro-apoptotic effects on breast adenocarcinoma through the induction of NADPH oxidase 1 and the alteration of mitochondrial morphology and dynamics. 61
27418140 2016
42
[Surgical aspects of indications and techniques for adenomatous polyposis variants]. 61
27339646 2016
43
NMR-based metabolomics reveals urinary metabolome modifications in female Sprague-Dawley rats by cranberry procyanidins. 61
27309592 2016
44
EVALUATION OF ANTIOXIDANT ACTIVITY OF SOME IMINES DERIVATIVES OF L-ARGININE. 61
27483732 2016
45
Reconstruction of distal hand and foot defects with the free proximal peroneal artery perforator flap. 61
25516400 2016
46
Prenylated Polyphenols from Clusiaceae and Calophyllaceae with Immunomodulatory Activity on Endothelial Cells. 61
27907087 2016
47
UniProtKB/Swiss-Prot, the Manually Annotated Section of the UniProt KnowledgeBase: How to Use the Entry View. 61
26519399 2016
48
Racemic cobalt phosphonates incorporating flexible bis(imidazole) co-ligands. 61
26419893 2015
49
Chirality- and pH-Controlled Supramolecular Isomerism in Cobalt Phosphonates and Its Impact on the Magnetic Behavior. 61
26481212 2015
50
Profiling the metabolome changes caused by cranberry procyanidins in plasma of female rats using (1) H NMR and UHPLC-Q-Orbitrap-HRMS global metabolomics approaches. 61
26264887 2015

Variations for Polymerase Proofreading-Related Adenomatous Polyposis

Expression for Polymerase Proofreading-Related Adenomatous Polyposis

Search GEO for disease gene expression data for Polymerase Proofreading-Related Adenomatous Polyposis.

Pathways for Polymerase Proofreading-Related Adenomatous Polyposis

Pathways related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 POLE POLD1
2
Show member pathways
12.19 POLE POLD1
3
Show member pathways
12.04 POLE POLD1
4
Show member pathways
11.93 POLE POLD1
5
Show member pathways
11.74 POLE POLD1
6
Show member pathways
11.62 POLE POLD1
7
Show member pathways
11.54 POLE POLD1
8
Show member pathways
11.22 POLE POLD1
9
Show member pathways
10.93 POLE POLD1
10 10.26 POLE POLD1

GO Terms for Polymerase Proofreading-Related Adenomatous Polyposis

Biological processes related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.48 POLE POLD1
2 DNA repair GO:0006281 9.46 POLE POLD1
3 DNA replication GO:0006260 9.43 POLE POLD1
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.4 POLE POLD1
5 DNA biosynthetic process GO:0071897 9.37 POLE POLD1
6 telomere maintenance via semi-conservative replication GO:0032201 9.32 POLE POLD1
7 nucleotide-excision repair, DNA gap filling GO:0006297 9.26 POLE POLD1
8 DNA synthesis involved in DNA repair GO:0000731 9.16 POLE POLD1
9 base-excision repair, gap-filling GO:0006287 8.96 POLE POLD1
10 DNA replication proofreading GO:0045004 8.62 POLE POLD1

Molecular functions related to Polymerase Proofreading-Related Adenomatous Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.32 POLE POLD1
2 nucleotidyltransferase activity GO:0016779 9.26 POLE POLD1
3 iron-sulfur cluster binding GO:0051536 9.16 POLE POLD1
4 4 iron, 4 sulfur cluster binding GO:0051539 8.96 POLE POLD1
5 DNA-directed DNA polymerase activity GO:0003887 8.62 POLE POLD1

Sources for Polymerase Proofreading-Related Adenomatous Polyposis

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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