Gardner syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL POLYPOSIS OF THE COLON
ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED
BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
AAPC, INCLUDED
AFAP, INCLUDED
BTPS2, INCLUDED
POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME, INCLUDED
GS, INCLUDED
ADENOMATOUS POLYPOSIS OF THE COLON
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED
FPC
FAP1
APC
Number of Symptoms 29
OrphanetNr: 79665
OMIM Id: 175100
ICD-10: D12.6
UMLs: C0017097
MeSH: D005736
MedDRA: 10017727
Snomed: 60876000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disease with potential neoplastic degeneration associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Familial adenomatous polyposis
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare oncologic disease
Genetic skin tumor
 -Rare genetic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Malformation syndrome with hamartosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Palpebral sebaceus gland tumor
 -Rare eye disease
 -Rare genetic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0011069) Increased number of teeth 39 / 7739
2
(HPO:0011068) Odontoma 6 / 7739
3
(HPO:0000706) Unerupted tooth 10 / 7739
4
(HPO:0000670) Carious teeth 145 / 7739
5
(HPO:0007649) Congenital hypertrophy of retinal pigment epithelium 5 / 7739
6
(HPO:0009592) Astrocytoma 15 / 7739
7
(HPO:0002885) Medulloblastoma 20 / 7739
8
(HPO:0006744) Adrenocortical carcinoma 10 / 7739
9
(HPO:0006722) Small intestine carcinoid 5 / 7739
10
(HPO:0002895) Papillary thyroid carcinoma 10 / 7739
11
(HPO:0100245) Desmoid tumors 6 / 7739
12
(HPO:0005227) Adenomatous colonic polyposis 9 / 7739
13
(HPO:0004783) Duodenal polyposis 5 / 7739
14
(HPO:0004394) Multiple gastric polyps 9 / 7739
15
(HPO:0003003) Colon cancer 20 / 7739
16
(HPO:0002884) Hepatoblastoma 11 / 7739
17
(HPO:0000953) Hyperpigmentation of the skin 75 / 7739
18
(HPO:0010562) Keloids 11 / 7739
19
(HPO:0001012) Multiple lipomas 43 / 7739
20
(HPO:0100244) Fibrosarcoma 6 / 7739
21
(HPO:0010614) Fibroma 10 / 7739
22
(MedDRA:10067852) Lipofibroma 4 / 7739
23
(OMIM) Endosteal and exosteal osteomas 4 / 7739
24
(OMIM) Periampullary carcinoma 4 / 7739
25
(OMIM) Mammary fibrosis 4 / 7739
26
(OMIM) Skull osteomas, especially involving the mandibular angle 4 / 7739
27
(OMIM) Epidermoid inclusion cysts 4 / 7739
28
(MedDRA:10001150) Adenocarcinoma gastric 4 / 7739
29
(OMIM) Mesenteric fibromatosis 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial adenomatous polyposis is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma ...
Diagnosis OMIM Petersen et al. (1989) demonstrated how one could use linkage information to modify the genetic counseling recommendations for FAP. In the family of an affected 36-year-old man with a positive family history of FAP, there were 4 asymptomatic ...
Clinical Description OMIM Gardner (1951) reported a large Utah family with intestinal polyposis that appeared to be a predisposing factor for carcinoma of the colon and rectum. Inheritance was autosomal dominant. In ensuing years, affected family members developed other abnormal growths, ...
Molecular genetics OMIM In 4 unrelated patients with familial adenomatous polyposis coli, Groden et al. (1991) identified 4 different heterozygous inactivating mutations in the APC gene (611731.0001-611731.0004).

In the germline of 5 patients with FAP or Gardner syndrome, Nishisho ...

Population genetics OMIM In the Johns Hopkins Hospital Colon Polyposis Registry, established in 1973 and covering 6 states and the District of Columbia, 98 Gardner syndrome kindreds and 47 APC kindreds were recorded by April 1988. (The Peutz-Jeghers syndrome (175200) was ...