Li-Fraumeni Syndrome [Liův-Fraumeniho syndrom]

topical
39
Terms

Li-Fraumeni syndrom
Li-Fraumeniho syndrom
syndrom Li-Fraumeni
syndrom Liův-Fraumeniho

Persistent link   https://www.medvik.cz/link/D016864
Definition

Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.

DUI
D016864 MeSH Browser
CUI
M0025667
Previous indexing
Neoplasms (1982-1986); Neoplastic Syndromes, Hereditary (1987-1991); Syndrome (1982-1986)
History note
92
Public note
92

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 4
DI
diagnosis 16
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 4
EH
ethnology
ET
etiology 3
GE
genetics 31
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 1
PP
physiopathology
PC
prevention & control 6
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VE
veterinary
VI
virology

C Diseases
C04 Neoplasms 12 774
C04.700 Neoplastic Syndromes, Hereditary 143
C04.700.100 Adenomatous Polyposis Coli 92
C04.700.175 Basal Cell Nevus Syndrome 33
C04.700.212 Birt-Hogg-Dube Syndrome 8
C04.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C04.700.305 Dysplastic Nevus Syndrome 17
C04.700.330 Exostoses, Multiple Hereditary 12
C04.700.435 Hamartoma Syndrome, Multiple 25
C04.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C04.700.600 Li-Fraumeni Syndrome 39
C04.700.630 Multiple Endocrine Neoplasia 32
C04.700.631 Neurofibromatoses 28
C04.700.633 Peutz-Jeghers Syndrome 37
C04.700.700 Tuberous Sclerosis 141
C04.700.900 Wilms Tumor 112
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.700.100 Adenomatous Polyposis Coli 92
C16.320.700.175 Basal Cell Nevus Syndrome 33
C16.320.700.212 Birt-Hogg-Dube Syndrome 8
C16.320.700.250 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C16.320.700.305 Dysplastic Nevus Syndrome 17
C16.320.700.330 Exostoses, Multiple Hereditary 12
C16.320.700.435 Hamartoma Syndrome, Multiple 25
C16.320.700.517 Hereditary Breast and Ovarian Cancer Syndrome 53
C16.320.700.600 Li-Fraumeni Syndrome 39
C16.320.700.630 Multiple Endocrine Neoplasia 32
C16.320.700.633 Neurofibromatoses 28
C16.320.700.667 Peutz-Jeghers Syndrome 37
C16.320.700.700 Tuberous Sclerosis 141
C16.320.700.900 Wilms Tumor 112
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.284 DNA Repair-Deficiency Disorders 10
C18.452.284.060 Ataxia Telangiectasia 47
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.255 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 7
C18.452.284.800 Severe Combined Immunodeficiency 63
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25

Li-Fraumeni Syndrome 2 Disease MeSH Browser

Li-Fraumeni Syndrome 3 Disease MeSH Browser

Li-Fraumeni-Like Syndrome Disease MeSH Browser

Sarcoma family syndrome of Li and Fraumeni Disease MeSH Browser

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