APC-related attenuated 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
APC
APC-related AFAP
APC-related attenuated familial polyposis coli
APC-related attenuated FAP
Number of Symptoms 29
OrphanetNr: 247806
OMIM Id: 175100
ICD-10: D12.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Attenuated familial adenomatous polyposis
 -Rare gastroenterologic disease
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

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