loading...| Preferred Name |
Cystinuria |
| ID |
http://www.orpha.net/ORDO/Orphanet_214 |
| alternative_term |
Cystinuria-lysinuria syndrome |
| definition |
A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive Semi-dominant |
| hasDbXref |
UMLS:C0010691 OMIM:220100 MeSH:D003555 MedDRA:10011778 ICD-10:E72.0 ICD-11:5C60.2 |
| label |
Cystinuria |
| notation |
ORPHA:214 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_79166 http://www.orpha.net/ORDO/Orphanet_93603 |
| prefixIRI |
ORDO:Orphanet_214 |
| prefLabel |
Cystinuria |
| present_in |
Canada AND has_birth_prevalence_average_value : 8.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 14.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 50.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 40.0 AND has_point_prevalence_range : 1-5 / 10 000 Australia AND has_birth_prevalence_average_value : 25.0 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_birth_prevalence_average_value : 5.5 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_79166 http://www.orpha.net/ORDO/Orphanet_93603 |
| subClassOf |