MCID: GRD002
MIFTS: 33

Gardner Syndrome malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Cancer diseases categories

Summaries for Gardner Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Gardner syndrome is a rare,Ā 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). Affiliated tissues include skin, colon and testes.

Description from OMIM:48 175100

Aliases & Classifications for Gardner Syndrome

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44NIH Rare Diseases, 48OMIM, 63UMLS, 21GeneTests, 23GTR, 46Novoseek
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Classifications:



Aliases & Descriptions:

gardner syndrome 44 48 63
gardner's syndrome 44 21 23
polyposis coli and multiple hard and soft tissue tumors 44
intestinal polyposis, osteomas, sebaceous cysts 44
gardners syndrome 46


Related Diseases for Gardner Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Gardner Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1familial adenomatous polyposis10.4
2desmoid tumor10.4
3samson gardner syndrome10.4
4fibroma10.3
5craniopharyngioma10.3
6retinitis10.2
7fibromatosis10.2
8neurofibromatosis10.0
9pilomatrixoma10.0
10hypokalemia10.0
11hydronephrosis10.0
12adenocarcinoma10.0
13duodenum cancer10.0
14hepatoblastoma10.0
15hepatocellular carcinoma10.0
16thyroiditis10.0
17lymphoblastic lymphoma10.0
18tetraploidy10.0
19turcot syndrome10.0
20pouchitis10.0

Graphical network of diseases related to Gardner Syndrome:



Diseases related to gardner syndrome

Symptoms for Gardner Syndrome

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48OMIM
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Clinical features from OMIM:

175100

Drugs & Therapeutics for Gardner Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Gardner Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Gardner Syndrome:

id Genetic test Affiliating Genes
1 Gardner Syndrome21 23

Anatomical Context for Gardner Syndrome

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34MalaCards
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MalaCards organs/tissues related to Gardner Syndrome:

34
Skin, Colon, Testes, Thyroid, Breast, T cells

Animal Models for Gardner Syndrome or affiliated genes

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Publications for Gardner Syndrome

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53PubMed
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Articles related to Gardner Syndrome:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Novel mouse model for Gardner syndrome generated by a large-scale N-ethyl-N-nitrosourea mutagenesis program. (23551873)
2013
2
Successful iterative percutaneous cryoablation of multiple extraabdominal desmoid tumors in a patient with Gardner syndrome. (22840810)
2012
3
Desmoid tumors of the bilateral breasts in a patient without Gardner syndrome: a case report and review of literature. (21629058)
2012
4
Primary cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome. (21216148)
2011
5
Gardner syndrome: presurgical planning and surgical management of craniomaxillofacial osteomas. (21558892)
2011
6
Refractory ulcerative chronic pouchitis in a patient with Gardner syndrome following restorative proctocolectomy with ileal pouch-anal anastomosis. (22149567)
2011
7
Gardner syndrome: skin manifestations, differential diagnosis and management. (20141232)
2010
8
The surgical management of oral and maxillofacial manifestations of Gardner syndrome. (20594634)
2010
9
Multiple scalp epidermoid cysts in a child with Gardner syndrome. (20872138)
2010
10
Gardner syndrome with no clinical family history. (19568185)
2009
11
A case report of Gardner syndrome with hereditary widespread osteomatous jaw lesions. (19157925)
2009
12
APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. (19617769)
2009
13
One of the rarest syndromes in dentistry: gardner syndrome. (19212549)
2008
14
General practitioner's radiology case 50. Gardner syndrome. (17612387)
2007
15
Intraosseous pilomatricoma: a possible rare skeletal manifestation of Gardner syndrome. (17235575)
2007
16
Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene. (16433700)
2006
17
Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. (15533508)
2004
18
Pilomatricoma-like changes in the epidermoid cysts of Gardner syndrome with an APC gene mutation. (15187352)
2004
19
Benign osteoma with Gardner syndrome: review of the literature and report of a case. (15111819)
2004
20
The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic report. (14616385)
2003
21
Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report. (12182421)
2002
22
Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. (11342777)
2001
23
Gardner syndrome. (11712044)
2001
24
Gastrointestinal case of the day. Gardner syndrome. (10194797)
1999
25
Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis. (9628444)
1998
26
Diamond-Gardner syndrome: a case report. (9496803)
1998
27
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. (7485167)
1995
28
Multiple familial pilomatricomas: a cutaneous marker for Gardner syndrome? (8747580)
1995
29
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. (8593545)
1995
30
Gardner syndrome and desmoid tumors. (8266758)
1993
31
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. (3354603)
1988
32
A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium. (3422541)
1988
33
RFLP analysis in familial polyposis and Gardner syndrome. (2903508)
1988
34
The Gardner syndrome. (3117924)
1987
35
Gardner syndrome and interstitial chromosome deletion. (2827476)
1987
36
A prospective evaluation of the upper gastrointestinal tract and periampullary region in patients with Gardner syndrome. (4050754)
1985
37
The Gardner syndrome. Significance of ocular features. (6493700)
1984
38
Case report 253. Gardner syndrome with aggressive fibromatosis. (6710182)
1984
39
Multiclonal origin of polyps in Gardner syndrome. (6879192)
1983
40
Familial polyposis coli and Gardner syndrome--is there a difference? (6856638)
1983
41
The use of a tumor promoter for the detection of individuals with the Gardner syndrome. (6821842)
1983
42
Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome. (6805315)
1982
43
Case report 129: Gardner syndrome. (7209586)
1980
44
Dermatoglyphics in the Gardner syndrome. (298798)
1979
45
The Gardner syndrome: a cell culture study on kindred 109. (739523)
1978
46
Is Gardner syndrome a distinct genetic disorder? (72258)
1977
47
The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. (1271427)
1976
48
Carcinoma in the Gardner syndrome: a case report. (1117596)
1975
49
The gardner syndrome. A study in cell culture. (1212649)
1975
50
The Gardner syndrome: need for early diagnosis. (5647292)
1968

Variations for Gardner Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gardner Syndrome:

65 (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

Clinvar genetic disease variations for Gardner Syndrome:

1 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1APCNM_000038.5(APC): c.730_731delAG (p.Arg244Valfs)deletionPathogenicrs387906228GRCh37Chr 5, 112136976: 112136977
2APCNM_000038.5(APC): c.1369delT (p.Ser457Hisfs)deletionPathogenicrs387906229GRCh37Chr 5, 112157649: 112157649
3APCNM_000038.5(APC): c.1500T> G (p.Tyr500Ter)single nucleotide variantPathogenicrs387906230GRCh37Chr 5, 112162896: 112162896
4APCNM_000038.5(APC): c.1240C> T (p.Arg414Cys)single nucleotide variantPathogenic, Uncertain significancers137854567GRCh37Chr 5, 112154969: 112154969
5APCNM_000038.5(APC): c.904C> T (p.Arg302Ter)single nucleotide variantPathogenicrs137854568GRCh37Chr 5, 112151261: 112151261
6APCNM_000038.5(APC): c.509_512delATAG (p.Asp170Valfs)deletionPathogenicrs387906231GRCh37Chr 5, 112111412: 112111415
7APCNM_000038.5(APC): c.1069dupA (p.Ile357Asnfs)duplicationPathogenicrs387906232GRCh37Chr 5, 112154798: 112154799
8APCNM_000038.5(APC): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs137854572GRCh37Chr 5, 112163698: 112163698
9APCNM_000038.5(APC): c.1660C> T (p.Arg554Ter)single nucleotide variantPathogenicrs137854573GRCh37Chr 5, 112164586: 112164586
10APCNM_000038.5(APC): c.1690C> T (p.Arg564Ter)single nucleotide variantPathogenicrs137854574GRCh37Chr 5, 112164616: 112164616
11APCNM_000038.5(APC): c.1885_1886insA (p.Leu629Tyrfs)insertionPathogenicrs387906233GRCh37Chr 5, 112170789: 112170790
12APCNM_000038.5(APC): c.2805C> A (p.Tyr935Ter)single nucleotide variantPathogenicrs137854575GRCh37Chr 5, 112174096: 112174096
13APCNM_000038.5(APC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs137854576GRCh37Chr 5, 112111373: 112111373
14APCNM_000038.5(APC): c.643C> T (p.Gln215Ter)single nucleotide variantPathogenicrs137854577GRCh37Chr 5, 112116598: 112116598
15NM_001127510.2: c.1959-640_*64188del71402deletionPathogenicGRCh37Chr 5, 112172610: 112244011
16APCNM_000038.5(APC): c.3927_3931delAAAGA (p.Glu1309Aspfs)deletionPathogenicrs121913224GRCh37Chr 5, 112175218: 112175222
17APCNM_000038.5(APC): c.5942delA (p.Asn1981Ilefs)deletionPathogenicrs397509433GRCh37Chr 5, 112177233: 112177233
18APCNM_000038.5(APC): c.5582_5585delCTTT (p.Ser1861Terfs)deletionPathogenicGRCh38Chr 5, 112841176: 112841179
19APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significance, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
20APCAPC, TYR486TERsingle nucleotide variantPathogenic
21APCNM_000038.5(APC): c.1311_1312+1delAAGdeletionPathogenicrs397514030GRCh37Chr 5, 112155040: 112155042
22APCNM_000038.5(APC): c.1098_1099delCT (p.Ser367Cysfs)deletionPathogenicrs387906237GRCh37Chr 5, 112154827: 112154828
23APCNM_000038.5(APC): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs387906238GRCh37Chr 5, 112154921: 112154922
24APCNM_000038.5(APC): c.3949G> C (p.Glu1317Gln)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers1801166GRCh37Chr 5, 112175240: 112175240
25APCNM_000038.5(APC): c.937_938delGA (p.Glu313Asnfs)deletionPathogenicrs387906239GRCh37Chr 5, 112154666: 112154667
26APCAPC deletiondeletionPathogenicGRCh38Chr 5, 112707504: 112846240
27APCNM_000038.5(APC): c.423-1G> Asingle nucleotide variantPathogenicrs397514031GRCh37Chr 5, 112111325: 112111325
28APCAPC, 11-BP INS, NT1060insertionPathogenic
29APCNM_000038.5: c.(?_1959)_*(2113_?)deldeletionPathogenic
30APCAPC, 5-BP DEL, NT3221deletionPathogenic

Expression for genes affiliated with Gardner Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gardner Syndrome

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Pathways for genes affiliated with Gardner Syndrome

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Compounds for genes affiliated with Gardner Syndrome

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GO Terms for genes affiliated with Gardner Syndrome

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Products for genes affiliated with Gardner Syndrome

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Sources for Gardner Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet