loading...| Preferred Name |
Prader-Willi syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_739 |
| alternative_term |
Prader-Labhart-Willi syndrome |
| definition |
A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Not applicable Autosomal dominant |
| hasDbXref |
OMIM:615547 ICD-10:Q87.1 OMIM:176270 UMLS:C0032897 ICD-11:LD90.3 MedDRA:10036476 MeSH:D011218 |
| label |
Prader-Willi syndrome |
| notation |
ORPHA:739 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_181387 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_399846 |
| prefixIRI |
ORDO:Orphanet_739 |
| prefLabel |
Prader-Willi syndrome |
| present_in |
Belgium AND has_birth_prevalence_average_value : 3.7 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 4.76 AND has_birth_prevalence_range : 1-9 / 100 000 Belgium AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 4.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.1 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.2 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.229 AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 1.9 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 3.4 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_181387 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_399846 |
| subClassOf |