Familial adenomatous polyposis

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
FAP
APC
Colorectal adenomatous polyposis
Familial polyposis coli
Number of Symptoms 38
OrphanetNr: 733
OMIM Id: 175100
ICD-10: D12.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic digestive tract tumor
 -Rare genetic disease
Genetic intestinal polyposis
 -Rare genetic disease
Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Intestinal polyposis syndrome
 -Rare gastroenterologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000706) Unerupted tooth 10 / 7739
2
(HPO:0000670) Carious teeth 145 / 7739
3
(HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
4
(HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
5
(HPO:0100612) Odontogenic neoplasm Occasional [Orphanet] 5 / 7739
6
(HPO:0011068) Odontoma 6 / 7739
7
(HPO:0007649) Congenital hypertrophy of retinal pigment epithelium 5 / 7739
8
(HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
9
(HPO:0002885) Medulloblastoma 20 / 7739
10
(HPO:0009592) Astrocytoma 15 / 7739
11
(HPO:0006722) Small intestine carcinoid 5 / 7739
12
(HPO:0002895) Papillary thyroid carcinoma 10 / 7739
13
(HPO:0006744) Adrenocortical carcinoma 10 / 7739
14
(HPO:0002884) Hepatoblastoma 11 / 7739
15
(HPO:0100273) Neoplasm of the colon Frequent [Orphanet] 18 / 7739
16
(HPO:0004783) Duodenal polyposis 5 / 7739
17
(HPO:0200008) Intestinal polyposis Very frequent [Orphanet] 23 / 7739
18
(HPO:0005227) Adenomatous colonic polyposis 9 / 7739
19
(HPO:0003003) Colon cancer 20 / 7739
20
(HPO:0100245) Desmoid tumors 6 / 7739
21
(HPO:0004394) Multiple gastric polyps 9 / 7739
22
(HPO:0010562) Keloids 11 / 7739
23
(HPO:0000953) Hyperpigmentation of the skin 75 / 7739
24
(HPO:0007400) Irregular hyperpigmentation Occasional [Orphanet] 72 / 7739
25
(HPO:0002664) Neoplasm Frequent [Orphanet] 111 / 7739
26
(HPO:0100244) Fibrosarcoma 6 / 7739
27
(HPO:0010614) Fibroma 10 / 7739
28
(HPO:0100242) Sarcoma Occasional [Orphanet] 27 / 7739
29
(HPO:0001012) Multiple lipomas Occasional [Orphanet] 43 / 7739
30
(MedDRA:10001150) Adenocarcinoma gastric 4 / 7739
31
(MedDRA:10067852) Lipofibroma 4 / 7739
32
(OMIM) Periampullary carcinoma 4 / 7739
33
(OMIM) Endosteal and exosteal osteomas 4 / 7739
34
(OMIM) Mesenteric fibromatosis 4 / 7739
35
(HPO:0030426) Ossifying fibroma Occasional [Orphanet] 5 / 7739
36
(OMIM) Skull osteomas, especially involving the mandibular angle 4 / 7739
37
(OMIM) Epidermoid inclusion cysts 4 / 7739
38
(OMIM) Mammary fibrosis 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 ...