loading...| Preferred Name | obsolete_progeria syndrome | |
| Synonyms |
Hutchinson-Gilford Disease Syndrome, Hutchinson-Gilford Progeria syndrome (disorder) [Ambiguous] Hutchinson Gilford syndrome Premature senility syndrome Hutchinson-Gilford Syndrome Hutchinson-Gilford syndrome (disorder) Progeria (disorder) Hutchinson-Gilford Progeria syndrome HGPS Progeria |
|
| Definitions |
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. 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0000671 |
|
| Obsolete |
true |
|
| database_cross_reference |
SNOMEDCT:238870004 NCIt:C34951 MeSH:D011371 OMIM:176670 DOID:3911 |
|
| 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 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. 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. |
|
| deprecated |
true |
|
| has_exact_synonym |
Hutchinson-Gilford Disease Syndrome, Hutchinson-Gilford Progeria syndrome (disorder) [Ambiguous] Hutchinson Gilford syndrome Premature senility syndrome Hutchinson-Gilford Syndrome Hutchinson-Gilford syndrome (disorder) Progeria (disorder) Hutchinson-Gilford Progeria syndrome HGPS Progeria |
|
| label |
obsolete_progeria syndrome |
|
| obsoleted_in_version |
2.32 |
|
| organizational_class |
true |
|
| preferred label |
obsolete_progeria syndrome |
|
| prefixIRI |
efo:EFO_0000671 |
|
| prefLabel |
obsolete_progeria syndrome |
|
| reason_for_obsolescence |
use 'http://www.orpha.net/ORDO/Orphanet_740' instead. New Label : Hutchinson-Gilford progeria syndrome |
|
| term editor |
Tomasz Adamusiak James Malone |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0000671 | CLO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000671 | CCONT | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_0000671 | CCONT | LOOM |