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Descriptor English: Progeria
Descriptor Spanish: Progeria
Descriptor progeria
Entry term(s) síndrome de Hutchinson-Gilford
síndrome de progeria de Hutchinson-Gilford
Scope note: Afección congénita asociada a defectos del gen que codifica la LAMINA DE TIPO A y que se caracteriza por envejecimiento prematuro en niños, que presentan todos los cambios del envejecimiento celular. Se manifiesta por canas prematuras, caída del cabello, pérdida de la audición (SORDERA), cataratas (CATARATA), ARTRITIS, OSTEOPOROSIS, DIABETES MELLITUS, atrofia de la grasa subcutánea, hipoplasia del esqueleto, incremento del ÁCIDO HIALURÓNICO en orina y ATEROSCLEROSIS acelerada. En muchos casos se desarrollan tumores malignos, especialmente SARCOMA.
Descriptor Portuguese: Progéria
Descriptor French: Progeria
Entry term(s): Hutchinson Gilford Progeria Syndrome
Hutchinson Gilford Syndrome
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndromes
Hutchinson-Gilford Syndrome
Progeria Syndrome, Hutchinson-Gilford
Progeria Syndromes, Hutchinson-Gilford
Tree number(s): C16.320.488.875
C16.320.565.753
C18.452.648.753
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D011371
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Related: Cockayne Syndrome MeSH
Werner Syndrome MeSH
DeCS ID: 11804
Unique ID: D011371
NLM Classification: WS 104
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2020/02/21
Progeria - Preferred
Concept UI M0017668
Scope note 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.
Preferred term Progeria
Entry term(s) Hutchinson Gilford Progeria Syndrome
Hutchinson Gilford Syndrome
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndromes
Hutchinson-Gilford Syndrome
Progeria Syndrome, Hutchinson-Gilford
Progeria Syndromes, Hutchinson-Gilford



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