MCID: APP018
MIFTS: 31

Appendix Disease

Categories: Gastrointestinal diseases

Aliases & Classifications for Appendix Disease

MalaCards integrated aliases for Appendix Disease:

Name: Appendix Disease 12 15
Disorder of Appendix 17

Classifications:



External Ids:

Disease Ontology 12 DOID:60000

Summaries for Appendix Disease

Disease Ontology : 12 A gastrointestinal system disease that is located in the appendix.

MalaCards based summary : Appendix Disease, also known as disorder of appendix, is related to ovary neuroendocrine neoplasm and anal canal paget's disease. An important gene associated with Appendix Disease is KRT7 (Keratin 7), and among its related pathways/superpathways are Pathways in cancer and VEGF Signaling. Affiliated tissues include appendix, and related phenotypes are digestive/alimentary and neoplasm

Related Diseases for Appendix Disease

Diseases related to Appendix Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 396)
# Related Disease Score Top Affiliating Genes
1 ovary neuroendocrine neoplasm 10.4 KRT7 CDX2
2 anal canal paget's disease 10.4 KRT7 CDX2
3 gastric signet ring cell adenocarcinoma 10.4 KRT7 CDX2
4 adenosquamous colon carcinoma 10.4 KRT7 CDX2
5 bartholin's gland disease 10.4 KRT7 CDX2
6 leukoplakia of penis 10.4 KRT7 CEACAM5
7 bartholin's gland carcinoma 10.4 KRT7 CDX2
8 bladder benign neoplasm 10.4 KRT7 KRT20
9 rectum neuroendocrine neoplasm 10.4 KRT7 CDX2
10 malignant acrospiroma 10.4 KRT7 CEACAM5
11 laryngeal mucoepidermoid carcinoma 10.4 CEACAM5 CDX2
12 cutaneous mucoepidermoid carcinoma 10.4 KRT7 CEACAM5
13 external ear carcinoma 10.4 KRT7 CEACAM5
14 vulval paget's disease 10.4 KRT7 CEACAM5
15 eccrine adenocarcinoma 10.4 KRT7 CEACAM5
16 renal pelvis adenocarcinoma 10.4 KRT7 CEACAM5
17 papillary squamous carcinoma 10.4 KRT7 CEACAM5
18 adenoid basal cell carcinoma 10.4 KRT7 CEACAM5
19 nephrogenic adenoma of urinary bladder 10.4 KRT7 KRT20
20 atrophic vulva 10.4 KRT7 KRT20
21 pancreatic cystadenocarcinoma 10.4 KRAS CEACAM5
22 ethmoid sinus cancer 10.4 HRAS CDX2
23 pericardium cancer 10.4 KRT7 CEACAM5
24 urinary bladder small cell neuroendocrine carcinoma 10.4 KRT7 KRT20
25 eyelid carcinoma 10.4 KRT7 KRT20
26 clear cell hidradenoma 10.4 KRT7 CEACAM5
27 hidrocystoma 10.4 KRT7 CEACAM5
28 liver sarcoma 10.4 KRT7 CEACAM5
29 ovarian large-cell neuroendocrine carcinoma 10.4 KRT7 KRT20
30 supine hypotensive syndrome 10.3 KRT7 KRT20
31 mucinous stomach adenocarcinoma 10.3 KRT7 CDX2
32 cervical mucinous adenocarcinoma 10.3 MUC6 KRT7
33 meibomian cyst 10.3 KRT7 KRT20
34 hepatic flexure cancer 10.3 KRAS HRAS
35 acute orbital inflammation 10.3 KRT7 KRT20
36 eccrine papillary adenocarcinoma 10.3 KRT7 CEACAM5
37 eccrine acrospiroma 10.3 KRT7 CEACAM5
38 trachea carcinoma in situ 10.3 KRAS HRAS
39 cobblestone retinal degeneration 10.3 KRAS HRAS
40 bile acid synthesis defect, congenital, 5 10.3 KRAS CEACAM5
41 eccrine sweat gland neoplasm 10.3 KRT7 CEACAM5
42 endobronchial lipoma 10.3 MUC5AC KRT7
43 nephrogenic adenoma of the urethra 10.3 KRT7 KRT20
44 sarcomatous intrahepatic cholangiocarcinoma 10.3 KRT7 CEACAM5
45 ampulla of vater benign neoplasm 10.3 KRAS HRAS
46 cutaneous adenocystic carcinoma 10.3 KRT7 CEACAM5
47 anal gland adenocarcinoma 10.3 MUC5AC KRT7 CDX2
48 anus adenocarcinoma 10.3 MUC5AC KRT7 CDX2
49 periampullary adenoma 10.3 KRAS HRAS
50 acneiform dermatitis 10.3 KRAS HRAS

Graphical network of the top 20 diseases related to Appendix Disease:



Diseases related to Appendix Disease

Symptoms & Phenotypes for Appendix Disease

MGI Mouse Phenotypes related to Appendix Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 CDX2 HRAS KRAS MUC5AC SATB2 SMAD4
2 neoplasm MP:0002006 9.1 CDX2 GNAS HRAS KRAS SMAD4 TP53

Drugs & Therapeutics for Appendix Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 US Follow-up After Appendicitis Attack. Unknown status NCT01795560
2 Evaluation of a Spirituality Informed E-mental Health Intervention (LEAP Project) for Major Depressive Disorder in Adolescents and Young Adults - A Randomized Controlled Pilot Trial Completed NCT00985686

Search NIH Clinical Center for Appendix Disease

Genetic Tests for Appendix Disease

Anatomical Context for Appendix Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Appendix Disease:

19
Appendix

MalaCards organs/tissues related to Appendix Disease:

40
Appendix

Publications for Appendix Disease

Articles related to Appendix Disease:

# Title Authors PMID Year
1
Post-transplant Lymphoproliferative Disorder of Appendix Mimicking Acute Appendicitis: A Case Report. 61
31371216 2019
2
Decreased Toll-like receptor-2 messenger ribonucleic acid and increased Toll-like receptor-4 in the tubal epithelium next to the infiltrated trophoblasts during tubal pregnancy. 61
27793374 2017
3
Transumbilical single-incision laparoscopic combined cholecystectomy and appendectomy: a retrospective comparative study. 61
25244670 2014
4
Locally elevated leukemia inhibitory factor in the inflamed fallopian tube resembles that found in tubal pregnancy. 61
18468598 2009
5
INTESTINAL CRISES SIMULATING CHRONIC APPENDIX DISEASE DIAGNOSED BY ROENTGEN RAY FINDINGS. 61
18737404 1917

Variations for Appendix Disease

Expression for Appendix Disease

Search GEO for disease gene expression data for Appendix Disease.

Pathways for Appendix Disease

Pathways related to Appendix Disease according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1 12.67 TP53 SMAD4 KRAS HRAS GNAS
2
Show member pathways
12.18 TP53 SMAD4 MUC1 KRAS HRAS
3 12.14 TP53 SMAD4 KRAS HRAS
4
Show member pathways
12.1 TP53 SMAD4 REG4 KRAS HRAS CDX2
5
Show member pathways
12.02 MUC6 MUC5B MUC5AC MUC1
6 11.95 TP53 SMAD4 KRAS GNAS
7 11.88 TP53 KRAS HRAS
8
Show member pathways
11.87 MUC6 MUC5B MUC5AC MUC1
9 11.86 TP53 KRAS HRAS
10 11.84 KRAS HRAS GNAS
11 11.82 TP53 KRAS HRAS
12
Show member pathways
11.8 KRAS HRAS GNAS
13 11.79 TP53 SMAD4 HRAS
14 11.75 SMAD4 KRAS HRAS
15 11.68 KRAS HRAS GNAS
16 11.62 TP53 SMAD4 KRAS HRAS
17 11.58 TP53 KRAS HRAS
18 11.55 TP53 KRAS HRAS
19 11.52 TP53 KRAS HRAS
20
Show member pathways
11.51 MUC6 MUC5B MUC5AC MUC1 KRAS HRAS
21
Show member pathways
11.49 MUC6 MUC5B MUC5AC MUC1
22 11.43 KRAS HRAS GNAS
23 11.02 SMAD4 KRAS HRAS
24 10.68 KRAS HRAS

GO Terms for Appendix Disease

Cellular components related to Appendix Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 REG4 PRSS36 MUC6 MUC5B MUC5AC MUC1
2 Golgi lumen GO:0005796 8.92 MUC6 MUC5B MUC5AC MUC1

Biological processes related to Appendix Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras protein signal transduction GO:0007265 9.5 TP53 KRAS HRAS
2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.37 TP53 MUC1
3 response to isolation stress GO:0035900 9.26 KRAS HRAS
4 O-glycan processing GO:0016266 9.26 MUC6 MUC5B MUC5AC MUC1
5 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.16 TP53 MUC1
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.1 MUC6 MUC5B MUC5AC MUC1 KRAS HRAS

Sources for Appendix Disease

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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