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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Laminopathies > Progeria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Progeria
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Progeria

Término preferido

Progeria  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

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

En otras lenguas

  • Progeria

    francés

  • HGPS
  • Syndrome de Hutchinson-Gilford

URI

http://data.loterre.fr/ark:/67375/JVR-LGDQZDM4-D

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