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column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0008310/OMIM:176670","MONDO:0008310/ORPHA:740"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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stenosis","primary":false},{"hpoId":"HP:0004382","label":"Mitral valve calcification","primary":false},{"hpoId":"HP:0001658","label":"Myocardial infarction","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0000418","label":"Narrow nasal ridge","primary":false},{"hpoId":"HP:0011832","label":"Narrow nasal tip","primary":false},{"hpoId":"HP:0030002","label":"Nocturnal lagophthalmos","primary":false},{"hpoId":"HP:0002758","label":"Osteoarthritis","primary":false},{"hpoId":"HP:0002797","label":"Osteolysis","primary":false},{"hpoId":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","primary":false},{"hpoId":"HP:0200034","label":"Papule","primary":false},{"hpoId":"HP:0002232","label":"Patchy alopecia","primary":false},{"hpoId":"HP:0006335","label":"Persistence of primary teeth","primary":false},{"hpoId":"HP:0004416","label":"Precocious atherosclerosis","primary":false},{"hpoId":"HP:0005181","label":"Premature coronary 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Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.","mondoId":"MONDO:0008310","records":[{"frequencyKind":"range","key":"06102630391407249ff9a98c2afdcfbc169fd428b591808806136d2589b9bd64","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:740","disease_name":"Hutchinson-Gilford progeria syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011457","is_excluded":false,"label":"Loss of eyelashes","onset_id":null,"reference":"ORPHA:740","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0631e7b2e3f853ef421cc255d9b0c7808d6965b983ada66413d5ac91f59fd765","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:176670","disease_name":"Hutchinson-Gilford progeria 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Hutchinson-Gilford progeria syndrome?"},{"bodyHtml":"

People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances of having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hutchinson-gilford-progeria-syndrome","sourceDocuments":[{"name":"Hutchinson-Gilford progeria syndrome","reviewed":"2007-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:17.463000+00:00","label":"Causes","pageSha256":"cc0a4af4fa327e61ee4dab8c7a3634ab79cce3c904aeb0a9cebcd7048bc0a90b","sourceUrl":"https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hutchinson-Gilford progeria syndrome"},"schemaVersion":1}