MCID: GRD002
MIFTS: 44

Gardner Syndrome malady

Gastrointestinal, Bone, Cancer categories

Summaries for Gardner Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 desmoid tumor and familial adenomatous polyposis. 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 skin, liver and spleen, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Description from OMIM:47 175100

Aliases & Classifications for Gardner Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 61UMLS, 20GeneTests, 22GTR, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

gardner syndrome 43 47 61
gardner's syndrome 43 20 22
polyposis coli and multiple hard and soft tissue tumors 43
intestinal polyposis, osteomas, sebaceous cysts 43
gardners syndrome 45


Related Diseases for Gardner Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Gardner Syndrome:



Diseases related to gardner syndrome

Clinical Features for Gardner Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

175100

Drugs & Therapeutics for Gardner Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Gardner Syndrome:

id Genetic test Affiliating Genes
1 Gardner Syndrome20 22

Anatomical Context for Gardner Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Gardner Syndrome:

33
Skin, Liver, Spleen, Colon, Pancreas, Thyroid, Adrenal gland, Breast, Prostate, T cells

Animal Models for Gardner Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Gardner Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5KIF3A, CTNNB1, APC
2MP:00053718.4KIF3A, CTNNB1, APC
3MP:00053828.2KIF3A, CTNNB1, APC

Publications for Gardner Syndrome

Sources:
51PubMed
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Articles related to Gardner Syndrome:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Gardner-Diamond syndrome associated with complex regional pain syndrome. (23580908)
2013
2
Antidepressant-induced Remission of Gardner Diamond Syndrome. (23723552)
2012
3
Successful iterative percutaneous cryoablation of multiple extraabdominal desmoid tumors in a patient with Gardner syndrome. (22840810)
2012
4
Gardner syndrome. (23264869)
2012
5
Case of Gardner-Diamond syndrome after intramuscular stimulation. (21736604)
2011
6
Gardner syndrome: skin manifestations, differential diagnosis and management. (20141232)
2010
7
Multiple scalp epidermoid cysts in a child with Gardner syndrome. (20872138)
2010
8
Gardner syndrome complicated with hydronephrosis. A case report. (22470715)
2010
9
Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? (20110204)
2010
10
Oral and maxillofacial manifestations of familial adenomatous polyposis (Gardner's syndrome): a report of two cases. (19142260)
2009
11
APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. (19617769)
2009
12
Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome): review of the literature. (19192020)
2009
13
Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder. (19573802)
2009
14
A de novo desmoid tumor of the surgical site following foramen magnum meningioma resection in a patient with Gardner's Syndrome: a case report and review of the literature. (18726556)
2009
15
One of the rarest syndromes in dentistry: gardner syndrome. (19212549)
2008
16
Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome) associated with cutaneous vasculitis. (18417404)
2008
17
Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. (18395919)
2008
18
Images in cardiovascular medicine. Left atrial fibroma in gardner syndrome: real-time 3-dimensional transesophageal echo imaging. (19001028)
2008
19
Images in emergency medicine. Gardner-Diamond syndrome. (17643849)
2007
20
Gardner-Diamond syndrome: Difficulties in the management of patients with unexplained medical symptoms. (19030312)
2006
21
Familial adenomatous polyposis: Gardner's syndrome]. (16846135)
2006
22
Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature. (17219843)
2006
23
Platelet function disorder in Gardner-Diamond syndrome: a case report and review of the literature. (15956886)
2005
24
Ocular manifestations of familial adenomatous polyposis (Gardner syndrome). (15763201)
2005
25
Gardner-Diamond syndrome. (15492430)
2004
26
Benign osteoma with Gardner syndrome: review of the literature and report of a case. (15111819)
2004
27
Autoerythrocyte sensitization (Gardner-Diamond) syndrome mimicking compartment syndrome. (12838436)
2003
28
Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report. (12182421)
2002
29
Modified multivisceral transplantation without a liver graft for Gardner/Desmoid syndrome and chronic intestinal pseudo-obstruction. (12034234)
2002
30
Gardner syndrome. (11342787)
2001
31
Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. (11145293)
2000
32
Cortisol producing adrenal adenoma--a new manifestation of Gardner's syndrome. (11196455)
2000
33
Gastrointestinal case of the day. Gardner syndrome. (10194797)
1999
34
Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis. (9628444)
1998
35
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. (7485167)
1995
36
Carcinoma of the ampulla of Vater and mesenteric fibromatosis (desmoid tumor) associated with Gardner's syndrome: problems in management. (7624301)
1995
37
Deletion (5q) in a desmoid tumor of a patient with Gardner's syndrome. (7987814)
1994
38
Gardner syndrome and desmoid tumors. (8266758)
1993
39
Effective chemotherapy for abdominal desmoid tumor in a patient with Gardner's syndrome. Report of a case. (1655371)
1991
40
Gardner-Diamond syndrome. (2385392)
1990
41
Gardner syndrome. Early presentation with a desmoid tumor. Discovery of multiple colonic polyps. (2805561)
1989
42
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. (3354603)
1988
43
Chromatid damage induced by fluorescent light during G2 phase in normal and Gardner syndrome fibroblasts. Interpretation in terms of deficient DNA repair. (4022038)
1985
44
Case report 253. Gardner syndrome with aggressive fibromatosis. (6710182)
1984
45
Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. (6805315)
1982
46
Case report 129: Gardner syndrome. (7209586)
1980
47
Dermatoglyphics in the Gardner syndrome. (298798)
1979
48
Decreased serum complement in the Gardner-Diamond syndrome: immunofluorescent findings and association with angioimmunoblastic lymphadenopathy. (342205)
1978
49
Gardner's syndrome and steatocystoma multiplex. Two unusual genetically determined conditions occurring in same patient. (1003453)
1976
50
Carcinoma in the Gardner syndrome: a case report. (1117596)
1975

Genetic Variations for Gardner Syndrome

Expression for genes affiliated with Gardner Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database, 30KEGG, 60Tocris Bioscience, 52QIAGEN, 12EMD Millipore, 54Reactome, 4Cell Signaling Technology
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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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Gardner Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone459.6CTNNB1, APC
2methylazoxymethanol acetate459.6CTNNB1, APC
3samp459.6CTNNB1, APC
41,2-dimethylhydrazine459.6CTNNB1, APC
5azoxymethane459.6CTNNB1, APC
62-amino-3-methylimidazo(4,5-f)quinoline459.5CTNNB1, APC
7exisulind459.5APC, CTNNB1
8sodium bisulfite459.5CTNNB1, APC
9phip459.4CTNNB1, APC
10crcs459.4CTNNB1, APC
11sulindac45 1110.3APC, CTNNB1
12linoleic acid45 29 2411.3CTNNB1, APC
13lithium45 50 11 2412.2CTNNB1, APC
14nocodazole45 1110.1APC, CTNNB1, MAPRE1
15celecoxib45 60 29 50 11 2414.0CTNNB1, APC

GO Terms for genes affiliated with Gardner Syndrome

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gardner Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet