loading...| Preferred Name |
Hartnup disease |
|
| Synonyms |
Aminoaciduria, Hartnup type |
|
| Definitions |
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). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2116 |
|
| alternative_term |
Aminoaciduria, Hartnup type Hartnup disorder |
|
| 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 |
MeSH:D006250 OMIM:234500 ICD-10:E72.0 MedDRA:10019165 ICD-11:5C60.Y UMLS:C0018609 |
|
| label |
Hartnup disease |
|
| notation |
ORPHA:2116 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_308451 http://www.orpha.net/ORDO/Orphanet_93593 |
|
| prefixIRI |
ORDO:Orphanet_2116 |
|
| prefLabel |
Hartnup disease |
|
| present_in |
United Kingdom AND has_point_prevalence_average_value : 4.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_birth_prevalence_average_value : 3.3 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 United States AND has_birth_prevalence_average_value : 3.85 AND has_birth_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183490 http://www.orpha.net/ORDO/Orphanet_308451 http://www.orpha.net/ORDO/Orphanet_93593 |
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| subClassOf |