Appendix Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Appendix Disease

MalaCards integrated aliases for Appendix Disease:

Name: Appendix Disease ¹² ¹⁵

Disorder of Appendix ¹⁷

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the digestive system

Diseases of appendix

Other diseases of appendix

Disease of appendix, unspecified

Other specified diseases of appendix

External Ids:

Disease Ontology ¹² DOID:60000

ICD10 ³² K35-K38 K38.8 K38.9

EFO ¹⁷ EFO_0009542

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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 leukoplakia of penis. 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 colon, and related phenotypes are digestive/alimentary and neoplasm

Wikipedia : ⁷⁴ The appendix (or vermiform appendix; also cecal [or caecal] appendix; vermix; or vermiform process) is a... more...

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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 414)

#	Related Disease	Score	Top Affiliating Genes
1	ovary neuroendocrine neoplasm	10.6	KRT7 CDX2
2	leukoplakia of penis	10.6	KRT7 CEACAM5
3	anal canal paget's disease	10.6	KRT7 CDX2
4	adenosquamous colon carcinoma	10.6	KRT7 CDX2
5	anus adenocarcinoma	10.6	KRT7 CDX2
6	bartholin's gland carcinoma	10.5	KRT7 CDX2
7	laryngeal mucoepidermoid carcinoma	10.5	CEACAM5 CDX2
8	malignant acrospiroma	10.5	KRT7 CEACAM5
9	bartholin's gland disease	10.5	KRT7 CDX2
10	rectum neuroendocrine neoplasm	10.5	KRT7 CDX2
11	cutaneous mucoepidermoid carcinoma	10.5	KRT7 CEACAM5
12	vulval paget's disease	10.5	KRT7 CEACAM5
13	nephrogenic adenoma of urinary bladder	10.5	KRT7 KRT20
14	intrahepatic bile duct adenoma	10.5	KRT7 KRT20
15	eccrine adenocarcinoma	10.5	KRT7 CEACAM5
16	renal pelvis adenocarcinoma	10.5	KRT7 CEACAM5
17	atrophic vulva	10.5	KRT7 KRT20
18	external ear carcinoma	10.5	KRT7 CEACAM5
19	ovarian primitive germ cell tumor	10.5	KRT7 CDX2
20	small cell carcinoma of the bladder	10.5	KRT7 KRT20
21	adenoid basal cell carcinoma	10.5	KRT7 CEACAM5
22	apocrine adenoma	10.5	KRT7 KRAS
23	scrotum paget's disease	10.5	MUC1 KRT7
24	squamous cell bile duct carcinoma	10.5	KRT7 CEACAM5
25	urinary bladder small cell neuroendocrine carcinoma	10.5	KRT7 KRT20
26	eyelid carcinoma	10.5	KRT7 KRT20
27	fibroepithelial basal cell carcinoma	10.5	KRT20 CEACAM5
28	cervical mucinous adenocarcinoma	10.5	MUC6 KRT7
29	gallbladder signet ring cell adenocarcinoma	10.5	MUC1 KRT7
30	clear cell hidradenoma	10.5	KRT7 CEACAM5
31	ovarian large-cell neuroendocrine carcinoma	10.5	KRT7 KRT20
32	hidrocystoma	10.5	KRT7 CEACAM5
33	liver sarcoma	10.5	KRT7 CEACAM5
34	meibomian cyst	10.5	KRT7 KRT20
35	immature teratoma of ovary	10.4	KRAS CEACAM5
36	trachea carcinoma in situ	10.4	KRAS HRAS
37	cobblestone retinal degeneration	10.4	KRAS HRAS
38	anal gland adenocarcinoma	10.4	MUC5AC KRT7 CDX2
39	ovarian brenner tumor	10.4	KRT7 KRT20
40	pancreatic serous cystadenoma	10.4	MUC6 CEACAM5
41	vulvar eccrine porocarcinoma	10.4	MUC1 CEACAM5
42	ureter adenocarcinoma	10.4	KRT7 CEACAM5 CDX2
43	anal canal adenocarcinoma	10.4	MUC5AC KRT7 CDX2
44	middle ear adenoma	10.4	MUC1 KRT7
45	mucinous adenofibroma	10.4	KRT7 CEACAM5 CDX2
46	bile acid synthesis defect, congenital, 5	10.4	KRAS CEACAM5
47	anal paget's disease	10.4	KRT7 CEACAM5 CDX2
48	warthin tumor	10.4	KRT7 CEACAM5
49	lipid-rich breast carcinoma	10.4	MUC1 CEACAM5
50	gastric tubular adenocarcinoma	10.4	MUC6 MUC5AC

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

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Symptoms & Phenotypes for Appendix Disease

MGI Mouse Phenotypes related to Appendix Disease:

⁴⁵

#	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

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Drugs & Therapeutics for Appendix Disease

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	US Follow-up After Appendicitis Attack.	Unknown status	NCT01795560

Search NIH Clinical Center for Appendix Disease

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Genetic Tests for Appendix Disease

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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, Colon

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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	Meena P...Bhargava V	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	Ji YF...Chen LY	27793374	2017
3	Transumbilical single-incision laparoscopic combined cholecystectomy and appendectomy: a retrospective comparative study. ⁶¹	Chen Y...Kong J	25244670	2014
4	Locally elevated leukemia inhibitory factor in the inflamed fallopian tube resembles that found in tubal pregnancy. ⁶¹	Ji YF...Shi YF	18468598	2009
5	INTESTINAL CRISES SIMULATING CHRONIC APPENDIX DISEASE DIAGNOSED BY ROENTGEN RAY FINDINGS. ⁶¹	Burnham MP...Crow LB	18737404	1917

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Genes for Appendix Disease

Genes related to Appendix Disease (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KRT7	Keratin 7	Protein Coding	7.45	DISEASES inferred ¹⁵
2	CDX2	Caudal Type Homeobox 2	Protein Coding	7.3	DISEASES inferred ¹⁵
3	MUC5AC	Mucin 5AC, Oligomeric Mucus/Gel-Forming	Protein Coding	7.13	DISEASES inferred ¹⁵
4	CEACAM5	CEA Cell Adhesion Molecule 5	Protein Coding	6.9	DISEASES inferred ¹⁵
5	GNAS	GNAS Complex Locus	Protein Coding	6.74	DISEASES inferred ¹⁵
6	KRT20	Keratin 20	Protein Coding	6.64	DISEASES inferred ¹⁵
7	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	6.57	DISEASES inferred ¹⁵
8	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	6.39	DISEASES inferred ¹⁵
9	MUC6	Mucin 6, Oligomeric Mucus/Gel-Forming	Protein Coding	6.32	DISEASES inferred ¹⁵
10	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	5.9	DISEASES inferred ¹⁵
11	SATB2	SATB Homeobox 2	Protein Coding	5.89	DISEASES inferred ¹⁵
12	REG4	Regenerating Family Member 4	Protein Coding	5.82	DISEASES inferred ¹⁵
13	TP53	Tumor Protein P53	Protein Coding	5.56	DISEASES inferred ¹⁵
14	RANBP6	RAN Binding Protein 6	Protein Coding	5.53	DISEASES inferred ¹⁵
15	MUC5B	Mucin 5B, Oligomeric Mucus/Gel-Forming	Protein Coding	5.51	DISEASES inferred ¹⁵
16	SMAD4	SMAD Family Member 4	Protein Coding	5.5	DISEASES inferred ¹⁵
17	CALB2	Calbindin 2	Protein Coding	5.47	DISEASES inferred ¹⁵

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Variations for Appendix Disease

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Expression for Appendix Disease

Search GEO for disease gene expression data for Appendix Disease.

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Pathways for Appendix Disease

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁶	12.67	TP53 SMAD4 KRAS HRAS GNAS
2	VEGF Signaling ⁶⁶ Show member pathways EGFR Signaling Pathway ⁶⁶ TGF-beta Signaling Pathway ⁶⁶ VEGF Signaling Pathway ⁶⁰	12.18	TP53 SMAD4 MUC1 KRAS HRAS
3	Human T-cell leukemia virus 1 infection ³⁶	12.14	TP53 SMAD4 KRAS HRAS
4	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.1	TP53 SMAD4 REG4 KRAS HRAS CDX2
5	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	12.02	MUC6 MUC5B MUC5AC MUC1
6	Colorectal Cancer Metastasis ⁶³	11.95	TP53 SMAD4 KRAS GNAS
7	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.87	MUC6 MUC5B MUC5AC MUC1
8	Glioblastoma Multiforme ⁶³	11.82	TP53 KRAS HRAS
9	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹	11.8	KRAS HRAS GNAS
10	Senescence and Autophagy in Cancer ¹	11.79	TP53 SMAD4 HRAS
11	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.75	SMAD4 KRAS HRAS
12	Gap junction ³⁶	11.68	KRAS HRAS GNAS
13	DNA Damage Response (only ATM dependent) ¹	11.62	TP53 SMAD4 KRAS HRAS
14	Bladder cancer ³⁶ ¹	11.58	TP53 KRAS HRAS
15	Central carbon metabolism in cancer ³⁶	11.55	TP53 KRAS HRAS
16	Mitophagy - animal ³⁶	11.52	TP53 KRAS HRAS
17	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	11.51	MUC6 MUC5B MUC5AC MUC1 KRAS HRAS
18	Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) ⁶⁵ Show member pathways Dectin-2 family ⁶⁵ Defective GALNT12 causes colorectal cancer 1 (CRCS1) ⁶⁵ Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) ⁶⁵ Termination of O-glycan biosynthesis ⁶⁵	11.49	MUC6 MUC5B MUC5AC MUC1
19	Long-term depression ³⁶	11.43	KRAS HRAS GNAS
20	Extracellular vesicle-mediated signaling in recipient cells ¹	11.02	SMAD4 KRAS HRAS
21	p38MAPK events ⁶⁵	10.68	KRAS HRAS

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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	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	positive regulation of transcription from RNA polymerase II promoter in response to stress	GO:0036003	9.26	TP53 MUC1
4	O-glycan processing	GO:0016266	9.26	MUC6 MUC5B MUC5AC MUC1
5	response to isolation stress	GO:0035900	9.16	KRAS HRAS
6	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.1	MUC6 MUC5B MUC5AC MUC1 KRAS HRAS

Molecular functions related to Appendix Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.02	TP53 SMAD4 SATB2 MUC1 CDX2

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Sources for Appendix Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia