loading...| Preferred Name |
Hutchinson-Gilford progeria syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_740 |
| alternative_term |
Progeria HGPS |
| 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). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-11:LD2B MedDRA:10036794 ICD-10:E34.8 MeSH:D011371 OMIM:176670 UMLS:C0033300 |
| label |
Hutchinson-Gilford progeria syndrome |
| notation |
ORPHA:740 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_93449 http://www.orpha.net/ORDO/Orphanet_300766 http://www.orpha.net/ORDO/Orphanet_139027 |
| prefixIRI |
ORDO:Orphanet_740 |
| prefLabel |
Hutchinson-Gilford progeria syndrome |
| present_in |
Worldwide AND has_birth_prevalence_average_value : 0.025 AND has_birth_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.005 AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_93449 http://www.orpha.net/ORDO/Orphanet_300766 http://www.orpha.net/ORDO/Orphanet_139027 |
| subClassOf |