MCID: GRD002
MIFTS: 41

Gardner Syndrome malady

Gastrointestinal diseases, Bone diseases, Cancer diseases categories

Summaries for Gardner Syndrome

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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. last updated: 6/2/2011

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

Description from OMIM:46 175100

Aliases & Classifications for Gardner Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Gastrointestinal diseases, Bone diseases


Aliases & Descriptions:

gardner syndrome 42 46 60
gardner's syndrome 42 20 22
polyposis coli and multiple hard and soft tissue tumors 42
intestinal polyposis, osteomas, sebaceous cysts 42
gardners syndrome 44


Related Diseases for Gardner Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Gardner Syndrome:



Diseases related to gardner syndrome

Clinical Features for Gardner Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

175100

Drugs & Therapeutics for Gardner Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Gardner Syndrome

Drug clinical trials:

Search ClinicalTrials for Gardner Syndrome

Search NIH Clinical Center for Gardner Syndrome

Search CenterWatch for Gardner Syndrome

Genetic Tests for Gardner Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Gardner Syndrome:

id Genetic test Affiliating Genes
1 Gardner Syndrome20 22

Anatomical Context for Gardner Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Gardner Syndrome:

32
Colon, Skin

Animal Models for Gardner Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Gardner Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5KIF3A, CTNNB1, APC
2MP:00053718.4KIF3A, CTNNB1, APC
3MP:00053828.2KIF3A, CTNNB1, APC

Publications for Gardner Syndrome

About this section

Genetic Variations for Gardner Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Gardner Syndrome:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1APCp.Ser171IleVAR_005032
2APCp.Arg414CysVAR_005033rs137854567
3APCp.Ser784ThrVAR_005034
4APCp.Glu911GlyVAR_005038
5APCp.Pro1176LeuVAR_005044
6APCp.Thr1313AlaVAR_005051
7APCp.Arg1348TrpVAR_005053
8APCp.Ser2621CysVAR_005056rs72541816
9APCp.Leu2839PheVAR_005057
10APCp.Ser722GlyVAR_009614
11APCp.Ala1184ProVAR_009616

Expression for genes affiliated with Gardner Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gardner Syndrome

Search GEO for disease gene expression data for Gardner Syndrome.

Pathways for genes affiliated with Gardner Syndrome

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 59Tocris Bioscience, 51QIAGEN, 12EMD Millipore, 53Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Gardner Syndrome according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MAPRE1, APC
2
Hide members
9.3APC, CTNNB1
39.3CTNNB1, APC
4
Hide members
9.3APC, CTNNB1
59.3CTNNB1, APC
69.3CTNNB1, APC
79.3CTNNB1, APC
8
Hide members
9.3APC, CTNNB1
99.3CTNNB1, APC
10
Hide members
9.3CTNNB1, APC
119.3APC, CTNNB1
129.3APC, CTNNB1
13
Hide members
9.3APC, CTNNB1
149.3CTNNB1, APC
15
Hide members
9.3CTNNB1, APC
169.3CTNNB1, APC
17
Hide members
9.3APC, CTNNB1
189.3CTNNB1, APC
199.3MAPRE1, CTNNB1
209.3MAPRE1, CTNNB1
218.5KIF3A, CTNNB1, APC

Compounds for genes affiliated with Gardner Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Gardner Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone449.6CTNNB1, APC
2methylazoxymethanol acetate449.6CTNNB1, APC
3samp449.6CTNNB1, APC
41,2-dimethylhydrazine449.6CTNNB1, APC
5azoxymethane449.6CTNNB1, APC
62-amino-3-methylimidazo(4,5-f)quinoline449.5CTNNB1, APC
7exisulind449.5APC, CTNNB1
8sodium bisulfite449.5CTNNB1, APC
9phip449.4CTNNB1, APC
10crcs449.4CTNNB1, APC
11sulindac44 1110.3APC, CTNNB1
12linoleic acid44 28 2411.3CTNNB1, APC
13lithium44 49 11 2412.2CTNNB1, APC
14nocodazole44 1110.1APC, CTNNB1, MAPRE1
15celecoxib44 59 28 49 11 2414.0CTNNB1, APC

GO Terms for genes affiliated with Gardner Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Gardner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule plus endGO:0353719.6APC, MAPRE1
2beta-catenin destruction complexGO:0308779.4APC, CTNNB1
3cell-cell adherens junctionGO:0059139.4CTNNB1, APC
4lateral plasma membraneGO:0163289.3APC, CTNNB1
5lamellipodiumGO:0300279.3CTNNB1, APC
6cytoplasmic microtubuleGO:0058819.3MAPRE1, APC
7centrosomeGO:0058138.2KIF3A, MAPRE1, CTNNB1, APC
8cytosolGO:0058297.7KIF3A, MAPRE1, CTNNB1, APC

Biological processes related to Gardner Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1proximal/distal pattern formationGO:0099549.5CTNNB1, APC
2T cell differentiation in thymusGO:0330779.4CTNNB1, APC
3thymus developmentGO:0485389.4CTNNB1, APC
4cellular component disassembly involved in execution phase of apoptosisGO:0069219.3APC, CTNNB1
5canonical Wnt receptor signaling pathwayGO:0600709.2CTNNB1, APC
6anterior/posterior pattern specificationGO:0099529.1KIF3A, APC
7kidney developmentGO:0018228.8KIF3A, APC

Molecular functions related to Gardner Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule plus-end bindingGO:0510109.4MAPRE1, APC
2protein C-terminus bindingGO:0080229.3MAPRE1, CTNNB1
3cadherin bindingGO:0452969.2CTNNB1, APC
4microtubule bindingGO:0080178.8KIF3A, APC

Products for genes affiliated with Gardner Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gardner Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet