loading...| Preferred Name |
progeria |
|
| Synonyms |
HGPS Progeria Hutchinson-Gilford Progeria syndrome Progeria syndrome (disorder) [Ambiguous] Premature senility syndrome Hutchinson Gilford Syndrome Hutchinson-Gilford syndrome (disorder) Hutchinson-Gilford Disease Progeria (disorder) progeria syndrome |
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| Definitions |
A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis. 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 greying; 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. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000671 |
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| comment |
A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis. 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 greying; 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. |
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| alternative term |
HGPS Progeria Hutchinson-Gilford Progeria syndrome Progeria syndrome (disorder) [Ambiguous] Premature senility syndrome Hutchinson Gilford Syndrome Hutchinson-Gilford syndrome (disorder) Hutchinson-Gilford Disease Progeria (disorder) progeria syndrome |
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| definition source |
GeneRIF:15342704 NCIt:C34951 GeneRIF:12714972 DOID:3911 SNOMEDCT:238870004 GeneRIF:12735900 GeneRIF:12768443 GeneRIF:12702809 MSH:D011371 GeneRIF:15608054 |
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| label |
progeria |
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| prefixIRI |
efo:EFO_0000671 |
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| prefLabel |
progeria |
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| see also | ||
| term editor |
James Malone |
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| subClassOf |
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