Gardner Syndrome malady

NIH Rare Diseases: Gardner syndrome is a rare, genetic disorder characterized by multiple growths (polyps) in the colon (often 1,000 or more), extra teeth (supernumerary), bony tumors of the skull (osteomas), and fatty cysts and/or fibrous tumors in the skin (fibromas or epithelial cysts). Gardner syndrome is a variant of familial adenomatous polyposis (FAP), a rare group of disorders characterized by the growth of multiple polyps in the colon.³⁰

MalaCards: Gardner Syndrome, also known as gardner's syndrome, is related to desmoid disease and desmoid tumor. An important gene associated with Gardner Syndrome is APC (adenomatous polyposis coli), and among its related pathways are Endometrial cancer and Basal cell carcinoma. The compounds methylazoxymethanol acetate and 1-hydroxyanthraquinone have been mentioned in the context of this disorder. Affiliated tissues include skin and colon, and related mouse phenotypes are craniofacial and limbs/digits/tail.

gardner syndrome 7 30 33 43 gardner's syndrome 30 16 polyposis coli and multiple hard and soft tissue tumors 30

intestinal polyposis, osteomas, sebaceous cysts 30 gardners syndrome 32

Diseases related to gardner syndrome by text searches and GeneDecks gene sharing:

(show all 43)

id	Related Disease	Score	Top Affiliating Genes
1	desmoid disease	29.3	CTNNB1, APC
2	desmoid tumor	29.2	APC, CTNNB1
3	familial adenomatous polyposis	28.6	CTNNB1, MAPRE1, APC, KIF3A
4	polyposis	28.6	KIF3A, APC, MAPRE1, CTNNB1
5	was-related disorders	28.0	KIF3A, MAPRE1, CTNNB1
6	gastrointestinal stromal tumor	12.8	APC, CTNNB1
7	cerebellar liponeurocytoma	12.7	APC, CTNNB1
8	attenuated familial adenomatous polyposis	12.7	CTNNB1, APC
9	juvenile polyposis syndrome	12.7	CTNNB1, APC
10	pancreatoblastoma	12.7	APC, CTNNB1
11	small intestine adenocarcinoma	12.7	CTNNB1, APC
12	hepatic adenoma	12.7	CTNNB1, APC
13	breast metaplastic carcinoma	12.7	APC, CTNNB1
14	turcot syndrome	12.7	CTNNB1, APC
15	lynch syndrome	12.7	APC, CTNNB1
16	acinar cell carcinoma	12.7	APC, CTNNB1
17	colonic polyps	12.7	APC, CTNNB1
18	childhood medulloblastoma	12.7	APC, CTNNB1
19	alveolar soft part sarcoma	12.7	APC, CTNNB1
20	adrenal adenoma	12.7	CTNNB1, APC
21	angiofibroma	12.7	APC, CTNNB1
22	hepatocellular cancer	12.6	APC, CTNNB1
23	parathyroid adenoma	12.6	APC, CTNNB1
24	thyroid cancer, follicular	12.6	APC, CTNNB1
25	peutz-jeghers syndrome	12.6	APC, CTNNB1
26	colorectal adenoma and carcinoma	12.6	CTNNB1, APC
27	fibromatosis	12.6	APC, CTNNB1
28	ovarian mucinous neoplasm	12.6	APC, CTNNB1
29	papillary thyroid carcinoma	12.6	CTNNB1, APC
30	bannayan-riley-ruvalcaba syndrome	12.5	APC, CTNNB1
31	adrenocortical tumor	12.5	APC, CTNNB1
32	gastric adenocarcinoma	12.4	CTNNB1, APC
33	neuroendocrine carcinoma	12.4	APC, CTNNB1
34	gallbladder carcinoma	12.3	APC, CTNNB1
35	breast cancer	12.3	APC, CTNNB1
36	carcinoid tumors	12.2	CTNNB1, APC
37	ependymoma	12.2	APC, MAPRE1, CTNNB1
38	adenomatous polyposis coli	12.2	CTNNB1, MAPRE1, APC
39	multiple endocrine neoplasia	12.0	APC, CTNNB1
40	esophageal squamous cell carcinoma	12.0	APC, MAPRE1, CTNNB1
41	samson gardner syndrome	7.6
42	gardner morrison abbot syndrome	6.1
43	pilomatrixoma	6.1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to gardner syndrome:

²²

MGI Mouse Phenotypes related to gardner syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.5	KIF3A, APC, CTNNB1
2	limbs/digits/tail phenotype	MP:0005371	8.2	KIF3A, APC, CTNNB1

Articles related to gardner syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder. (19573802)	GA^mez GarcA-a E.B.... Knoers N.V.	2009	CTNNB1, MAPRE1, KIF3A
2	Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene. (16433700)	Kovac M.... Zajac V.	2006	APC
3	Familial adenomatous polyposis: Gardner's syndrome (16846135)	NA_A+ez NA_A+ez R.... SantamarA-a Ossorio J.I.	2006	APC
4	Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. (7485167)	Davies D.R.... Warnes T.W.	1995	APC
5	Gardner syndrome in a man with an interstitial deletion of 5q. (3789010)	Herrera L.... Sandberg A.A.	1986	APC

Genes related to gardner syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	APC	adenomatous polyposis coli	11.0	Publications
2	CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa	11.0	Publications
3	KIF3A	kinesin family member 3A	11.0	Publications
4	MAPRE1	microtubule-associated protein, RP/EB family, member 1	11.0	Publications

Pathways related to gardner syndrome according to GeneDecks:

(show all 12)

id	Pathway	Score	Top Affiliating Genes
1	Endometrial cancer20	9.6	CTNNB1, APC
2	Basal cell carcinoma20	9.6	APC, CTNNB1
3	Colorectal cancer20	9.5	CTNNB1, APC
4	Glioblastoma Multiforme36	9.5	APC, CTNNB1
5	Reelin Pathway (Cajal-Retzius cells)36	9.5	CTNNB1, APC
6	Remodeling of Adherens Junctions36	9.4	CTNNB1, MAPRE1
7	Wnt Signaling Pathway37	9.4	APC, CTNNB1
8	G12-G13 in Cellular Signaling36	9.3	CTNNB1, APC
9	Presenilin-Mediated Signaling36	9.3	CTNNB1, APC
10	Factors Promoting Cardiogenesis in Vertebrates36	9.2	APC, CTNNB1
11	Human Embryonic Stem Cell Pluripotency36	9.0	CTNNB1, APC
12	Wnt / Hedgehog / Notch3	8.8	KIF3A, CTNNB1, APC

Compounds related to gardner syndrome according to GeneDecks:

(show all 15)

id	Compound	Score	Top Affiliating Genes
1	methylazoxymethanol acetate32	9.6	CTNNB1, APC
2	1-hydroxyanthraquinone32	9.6	CTNNB1, APC
3	samp32	9.6	CTNNB1, APC
4	1,2-dimethylhydrazine32	9.6	CTNNB1, APC
5	azoxymethane32	9.6	APC, CTNNB1
6	2-amino-3-methylimidazo(4,5-f)quinoline32	9.5	APC, CTNNB1
7	exisulind32	9.5	CTNNB1, APC
8	sodium bisulfite32	9.5	CTNNB1, APC
9	phip32	9.4	CTNNB1, APC
10	crcs32	9.4	CTNNB1, APC
11	sulindac32 9 9	11.3	APC, CTNNB1
12	linoleic acid32 18	10.3	CTNNB1, APC
13	lithium32 34 9 18 9	13.2	APC, CTNNB1
14	nocodazole32 42 9 9	12.0	APC, MAPRE1, CTNNB1
15	celecoxib32 42 34 9 18 9	14.0	CTNNB1, APC

Cellular components related to gardner syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule plus end	GO:035371	9.5	APC, MAPRE1
2	APC-Axin-1-beta-catenin complex	GO:034742	9.5	APC, CTNNB1
3	Axin-APC-beta-catenin-GSK3B complex	GO:034747	9.4	APC, CTNNB1
4	cytoplasmic microtubule	GO:005881	9.4	MAPRE1, APC
5	cell-cell adherens junction	GO:005913	9.2	APC, CTNNB1
6	lateral plasma membrane	GO:016328	9.0	CTNNB1, APC
7	centrosome	GO:005813	8.2	KIF3A, APC, MAPRE1, CTNNB1
8	cytosol	GO:005829	8.0	MAPRE1, APC, KIF3A, CTNNB1

Biological processes related to gardner syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	canonical Wnt receptor signaling pathway	GO:060070	9.3	APC, CTNNB1
2	skin development	GO:043588	9.2	APC, CTNNB1
3	cellular component disassembly involved in apoptotic process	GO:006921	9.0	APC, CTNNB1

Molecular functions related to gardner syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cadherin binding	GO:045296	9.3	APC, CTNNB1
2	microtubule plus-end binding	GO:051010	9.1	APC, MAPRE1