01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Progeria
- Standard Disease Name
- progeria
- MeSH Tree
- No data
- ICD-10
- E34.8
Identifiers
- DO ID
- No data
- MeSH ID
- D011371
- OMIM ID
- 176670|150330
- UMLS ID
- C0033300
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.|MSH2017_2016_08_12: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.|CHV2011_02:a disease that produces rapid aging, beginning in childhood|CHV2011_02:a disease that produces rapid aging, beginning in childhood|CHV2011_02:a disease that produces rapid aging, beginning in childhood