DiseaseID 4952
加德纳综合征
disease
NCI2016_02D:A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and
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Disease: 1Herb: 1Symptom: 8Target: 23Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4952
- Core Entity Id
- 61379
- Source Entity Count
- 1
- Preferred Name
- Gardner Syndrome
- Name Cn
- 加德纳综合征
- Name Pinyin
- Jia De Na Zong He Zheng
- Name En
- Gardner Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.|MSH2017_2016_08_12:A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gardner Syndrome
Role
preferred
Name
Adenomatous Polyposis Coli
Role
preferred
Name
Apc
Role
preferred
Name
Familial Adenomatous Polyposis 1
Role
preferred
Name
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
Role
preferred
Name
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
Role
preferred
Name
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
Role
preferred
Name
Familial Intestinal Polyposis
Role
preferred
Name
Polyposis, Adenomatous Intestinal
Role
preferred
Name
AAPC
Role
alias
Name
ADENOMATOUS POLYPOSIS COLI, ATTENUATED
Role
alias
Name
ADENOMATOUS POLYPOSIS OF THE COLON
Role
alias
Name
AFAP
Role
alias
Name
Attenuated Familial Adenomatous Polyposis
Role
alias
Name
BRAIN TUMOR-POLYPOSIS SYNDROME 2
Role
alias
Name
BTPS2
Role
alias
Name
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED
Role
alias
Name
FAMILIAL POLYPOSIS OF THE COLON
Role
alias
Name
FAP1
Role
alias
Name
FPC
Role
alias
Name
Familial Adenomatous Polyposis
Role
alias
Name
GS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001128HBDIS002442HBDIS019240HBDIS019241HBDIS019324HBDIS019659HBDIS019660
Me Sh
D005736D011125D017491
Omim
175100
Umls
C0017097C0032580C0162832C2673218C2674616C2713442
Sym Map
SMDE04347SMDE05524SMDE05993SMDE08919
Do Class
DOID:630
Dis Ge Net
C0017097C0032580C2673218C2673229C2674616C2713442C2713443
Umls Sty
T033T047T191
Me Sh Class
C04C06C16
Etcm Disease
Familial Adenomatous Polyposis 1
Tcmbank Disease
1468416859179371814425952294893563
Itcmdb Generated
ITX-DISEASE-016AE1B81A29ITX-DISEASE-06B8F8F9BC25ITX-DISEASE-85C456C5262C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Familial Adenomatous Polyposis 1 Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or SyndromeFindingNeoplastic Process
Basic Information
Disease Name
Familial Adenomatous Polyposis 1
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Gastrointestinal Diseases;Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.|MSH2017_2016_08_12:A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.NCI2016_02D:This gene plays a role in signal transduction. It is involved in both adhesion and migration of cells.|MSH2017_2016_08_12:Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.NCI2016_NCI-GLOSS_1602D:An inherited condition in which numerous polyps (growths that protrude from mucous membranes) form on the inside walls of the colon and rectum. It increases the risk for colon cancer.|NCI2016_02D:An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea.|MSH2017_2016_08_12:A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.SNOMEDCT_US_2016_09_01:A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.|NCI2016_02D:A rare genetic syndrome with an autosomal dominant pattern of inheritance. It was formerly called hereditary flat adenoma syndrome (HFAS) but is now recognized as an attenuated variant of familial adenomatous polyposis (FAP). It is most commonly associated with mutations in the APC gene specifically: exons 1-5, exon 9 and in the distal 3' terminus. Clinical presentation occurs in the middle decades and is characterized by the proximal development of multiple (but less than 100), non-polypoid colonic adenomas. Clinical progression to colorectal cancer may occur later in life but the risk is less than with classic FAP.
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
Umls Semantic Type Name
Disease or SyndromeFindingNeoplastic Process