DiseaseID 5529
Lynch综合征
disease
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms),
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 17Herb: 12Symptom: 12Target: 23Links: 65
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5529
- Core Entity Id
- 62045
- Source Entity Count
- 1
- Preferred Name
- Lynch Syndrome
- Name Cn
- Lynch综合征
- Name Pinyin
- Lynch Zong He Zheng
- Name En
- Lynch Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms),
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lynch Syndrome
Role
preferred
Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Role
preferred
Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Role
preferred
Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Role
preferred
Name
Hereditary Non-Polyposis Colorectal Cancer Syndrome
Role
preferred
Name
Hereditary Nonpolyposis Colorectal Neoplasms
Role
preferred
Name
Li-Fraumeni Syndrome
Role
preferred
Name
Li-Fraumeni Syndrome 1
Role
preferred
Name
Li-Fraumeni Syndrome 2
Role
preferred
Name
Hereditary Non-Polyposis Colon Cancer Type 2
Role
preferred
Name
Hereditary Nonpolyposis Colorectal Cancer
Role
preferred
Name
Li-Fraumeni-Like Syndrome
Role
preferred
Name
Lynch Syndrome I
Role
preferred
Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Role
alias
Name
Colorectal Neoplasms, Hereditary Nonpolyposis
Role
alias
Name
HNPCC5
Role
alias
Name
HNPCC8
Role
alias
Name
Hereditary Nonpolyposis Colorectal Cancer Type 2
Role
alias
Name
Hereditary Nonpolyposis Colorectal Cancer Type 5
Role
alias
Name
Hereditary Nonpolyposis Colorectal Cancer Type 8
Role
alias
Name
LFL
Role
alias
Name
LFS1
Role
alias
Name
LFS2
Role
alias
Name
Lynch Syndrome 1
Role
alias
Name
Lynch Syndrome Ii
Role
alias
Name
SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI
Role
alias
Name
SBLA SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000626HBDIS003279HBDIS012637HBDIS013780HBDIS013781HBDIS015179HBDIS015310HBDIS015437HBDIS019345HBDIS019868HBDIS020434HBDIS027401
Me Sh
D003123D016864D055847
Omim
120435151623609265609310613244614350
Umls
C0009405C0085390C1112155C1333990C1833477C1835398C1836482C2675080C2750471C2936783
Icd10
D48.9
Med Dra
10066795
Sym Map
SMDE00077SMDE00273SMDE00576SMDE01989SMDE02377SMDE04115SMDE04910SMDE07345SMDE09427SMDE09429
Do Class
DOID:630
Dis Ge Net
C0009405C0085390C1112155C1333990C1333991C1833477C1835398C1836482C2675080C2750471C2936783C4552100
Orphanet
144524
Umls Sty
T019T047T191
Me Sh Class
C04C06C16C18
Etcm Disease
Colorectal Cancer, Hereditary Nonpolyposis, Type 5Colorectal Cancer, Hereditary Nonpolyposis, Type 8Li-Fraumeni SyndromeLi-Fraumeni Syndrome 2Lynch SyndromeLynch Syndrome I
Tcmbank Disease
1654418171998723272268512811428361301433035931624460471078361
Itcmdb Generated
ITX-DISEASE-2483A26CD32AITX-DISEASE-3280B901EE74ITX-DISEASE-36B8B0126B33ITX-DISEASE-4D6299B1CCF8ITX-DISEASE-59B628ABA0E4ITX-DISEASE-97584ED29E33ITX-DISEASE-9789979E0018ITX-DISEASE-A03BF109807AITX-DISEASE-C836A4B9F1D0ITX-DISEASE-D7CF835CEE6C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Colorectal Cancer, Hereditary Nonpolyposis, Type 5 Details pageDisease Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Details pageDisease Li-Fraumeni Syndrome 2 Details pageDisease Li-Fraumeni Syndrome Details pageDisease Lynch Syndrome Details pageDisease Lynch Syndrome I Details page
Do Class Name
genetic disease
Disease Type
diseasegroup
Do Disease Class
genetic disease
Umls Disease Type
Congenital AbnormalityDisease or SyndromeNeoplastic Process
Basic Information
Disease Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Global Category
Cancer diseases;Genetic diseases
Anatomical Category
Gastrointestinal Diseases
Disease Name
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Global Category
Cancer diseases;Genetic diseases
Anatomical Category
Gastrointestinal Diseases
Disease Name
Li-Fraumeni Syndrome
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Li-Fraumeni Syndrome 2
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Neuronal diseases
Disease Name
Lynch Syndrome
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Nephrological diseases;Skin diseases
Disease Name
Lynch Syndrome I
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Nephrological diseases;Skin diseases
Disease Definition
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms),MSH2017_2016_08_12:A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.NCI2016_02D:A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.NCI2016_02D:A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.|MSH2017_2016_08_12:Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME.SNOMEDCT_US_2016_09_01:Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but have not met criterial for hereditary nonpolyposis colon cancer.|SNOMEDCT_US_2016_09_01:Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy.|NCI2016_NCI-GLOSS_1602D:An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50.|NCI2016_02D:An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes.|NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.|MSH2017_2016_08_12:HNPCC with no history of associated cancers.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeNeoplastic Process