loading...| Preferred Name |
Hartnup disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_2116 |
| alternative_term |
Hartnup disorder Aminoaciduria, Hartnup type |
| definition |
A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:234500 MeSH:D006250 ICD-11:5C60.Y ICD-10:E72.0 UMLS:C0018609 MedDRA:10019165 |
| label |
Hartnup disease |
| notation |
ORPHA:2116 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_308451 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_68385 |
| prefixIRI |
ORDO:Orphanet_2116 |
| prefLabel |
Hartnup disease |
| present_in |
United States AND has_birth_prevalence_average_value : 3.85 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 3.3 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_308451 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_93593 http://www.orpha.net/ORDO/Orphanet_68385 |
| subClassOf |