Progeria [progerie]

topical
27
Terms

HGPS
Hutchinsonův-Gilfordův syndrom
pravá progerie
předčasné zestárnutí
progeria infantilis
progerie dětí
syndrom Hutchinsonův-Gilfordův

 

Hutchinson Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Syndrome

Persistent link   https://www.medvik.cz/link/D011371
Definition

An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.

DUI
D011371 MeSH Browser
CUI
M0017668

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced 1
CL
classification 1
CO
complications 2
DI
diagnosis 6
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 5
GE
genetics 10
HI
history
IM
immunology
ME
metabolism 3
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 9
PP
physiopathology 2
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery 3
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.488 Laminopathies 2
C16.320.488.500 Autosomal Emery-Dreifuss Muscular Dystrophy
C16.320.488.750 Cardiomyopathy, Dilated 341
C16.320.488.813 Lipodystrophy, Familial Partial 1
C16.320.488.875 Progeria 27
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.151 Amino Acid Transport Disorders, Inborn 1
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.189 Brain Diseases, Metabolic, Inborn 28
C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36
C16.320.565.240 Cytochrome-c Oxidase Deficiency 27
C16.320.565.300 Hyperbilirubinemia, Hereditary 35
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.595 Lysosomal Storage Diseases 73
C16.320.565.618 Metal Metabolism, Inborn Errors 16
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors 41
C16.320.565.893 Renal Tubular Transport, Inborn Errors 36
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.151 Amino Acid Transport Disorders, Inborn 1
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.189 Brain Diseases, Metabolic, Inborn 28
C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36
C18.452.648.300 Hyperbilirubinemia, Hereditary 35
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.595 Lysosomal Storage Diseases 73
C18.452.648.618 Metal Metabolism, Inborn Errors 16
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors 41
C18.452.648.893 Renal Tubular Transport, Inborn Errors 36
C18.452.648.925 Steroid Metabolism, Inborn Errors 7

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