{"orpha":740,"name":"Hutchinson-Gilford progeria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HGPS","Progeria"],"definition":"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-740/","orphanet_url":"https://www.orpha.net/en/disease/detail/740","names":{"fr":{"name":"Progéria","synonyms":["HGPS","Syndrome de Hutchinson-Gilford"],"definition":"La progéria est une affection rare, autosomique dominante et fatale, caractérisée par un vieillissement prématuré débutant au cours de l'enfance. Elle se manifeste par un retard de croissance staturo-pondérale, une dysmorphie faciale (front proéminent, yeux exorbités, nez fin avec une pointe en forme de bec, oreilles protrusives, lèvres fines, micrognathie) et des signes dermatologiques distincts (alopécie généralisée, peau d'aspect âgé, peau sclérosée et creusée au niveau de l'abdomen et des extrémités, système vasculaire cutané proéminent, dépigmentation, hypoplasie unguéale et perte de graisse sous-cutanée)."},"de":{"name":"Hutchinson-Gilford-Syndrom","synonyms":["Progerie"]},"es":{"name":"Síndrome de Hutchinson-Gilford","synonyms":["Progeria"],"definition":"Es una enfermedad poco frecuente de envejecimiento prematuro autosómica dominante, fatal, de inicio en la infancia y que se caracteriza por una reducción del crecimiento, fallo de medro, una apariencia facial típica (frente prominente, ojos protuberantes, nariz delgada con punta aguileña, labios, micrognatia y orejas protuberantes) y distintas características dermatológicas (alopecia generalizada, piel de aspecto envejecido, piel esclerótica y con hoyuelos en el abdomen y las extremidades, vasculatura cutánea prominente, despigmentación, hipoplasia ungueal y pérdida de grasa subcutánea)."},"it":{"name":"Sindrome progeroide di Hutchinson-Gilford","synonyms":["Progeria"]},"nl":{"name":"Progeriasyndroom van Hutchinson-Gilford","synonyms":["HGPS","Progeria"],"definition":"Hutchinson-Gilford progeriasyndroom is een zeldzame, fatale, autosomaal dominante en voortijdige verouderingsziekte die in de kindertijd begint en die gekenmerkt wordt door een groeistoornis, niet gedijen, een typische gelaatsuitdrukking (prominent voorhoofd, uitpuilende ogen, dunne neus met een snavelvormige tip, dunne lippen, micrognathie en afstaande oren) en onderscheidende dermatologische kenmerken (gegeneraliseerde alopecia, verouderde huid, sclerotische en bobbelige huid op de buik en extremiteiten, prominente cutane vascularisatie, dyspigmentatie, hypoplasie van de nagels en verlies van onderhuids vet)."},"pt":{"name":"Síndrome de progeria Hutchinson-Gilford","synonyms":["HGPS","Progeria"],"definition":"A síndrome de progeria Hutchinson-Gilford é uma doença rara, fatal, autossómica dominante e de envelhecimento precoce, que se inicia na infância e se caracteriza por redução do crescimento, dificuldade de desenvolvimento, morfometria facial típico (testa proeminente, olhos salientes, nariz fino com ponta adunca, lábios finos, micrognatia e orelhas proeminentes) e características dermatológicas distintas (alopécia generalizada, pele com aspeto envelhecido, pele esclerótica e com covinhas no abdómen e extremidades, vascularização cutânea proeminente, discromia, hipoplasia ungueal e perda de gordura subcutânea)."},"pl":{"name":"Zespół progerii Hutchinsona i Gilforda","synonyms":["Progeria"]},"cs":{"name":"Hutchinsonův-Gilfordův syndrom progerie","synonyms":["HGPS","Progerie","Hutchinson-Gilfordův syndrom progerie"]},"uk":{"name":"Синдром прогерії Хатчинсона-Гілфорда","synonyms":["HGPS","Прогерія"],"definition":"Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)."},"zh":{"name":"Hutchinson-Gilford早老症","synonyms":["早老症"]},"tr":{"name":"Hutchinson-Gilford progeria sendromu","synonyms":["HGPS","Progerya"]}},"xrefs":[{"source":"OMIM","code":"176670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"926151882"},{"source":"MONDO","code":"0008310","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0033300","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036794","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":300766,"name":"Laminopathy with premature aging","classifications":[156]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301300[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]},{"symbol":"ZMPSTE24","name":"zinc metallopeptidase STE24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16671095[PMID]","hgnc":"12877","ensembl":"ENSG00000084073","omim":"606480","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.025,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-02","source":"20301300[PMID]_28660486[PMID]","terms":[{"hpo":"HP:0007485","label":"Absence of subcutaneous fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007394","label":"Prominent superficial blood vessels","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001544","label":"Prominent umbilicus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008647","label":"Pubertal developmental failure in females","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000436","label":"Abnormality of the nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005461","label":"Craniofacial disproportion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003292","label":"Decreased serum leptin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000050","label":"Hypoplastic male external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025168","label":"Left ventricular diastolic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008573","label":"Low-frequency sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000418","label":"Narrow nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011832","label":"Narrow nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012474","label":"Carotid artery occlusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010766","label":"Ectopic calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001757","label":"High-frequency sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011079","label":"Impacted tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010505","label":"Limitation of movement at ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006467","label":"Limited shoulder movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011457","label":"Loss of eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030002","label":"Nocturnal lagophthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000905","label":"Progressive clavicular acroosteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009904","label":"Prominent ear helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null}]}}