loading...| Preferred Name | Alport syndrome | |
| Synonyms |
Alport hearing loss-nephropathy Alport deafness-nephropathy |
|
| Definitions |
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_63 |
|
| alternative_term |
Alport hearing loss-nephropathy Alport deafness-nephropathy |
|
| definition |
A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=63 |
|
| has_age_of_onset |
Adolescent Adult Childhood Elderly |
|
| has_inheritance |
X-linked dominant Autosomal recessive Autosomal dominant |
|
| hasDbXref |
MedDRA:10001843 OMIM:203780 OMIM:301050 OMIM:104200 UMLS:C1567741 MeSH:D009394 ICD-10:Q87.8 ICD-11:LD2H.Y |
|
| label |
Alport syndrome |
|
| notation |
ORPHA:63 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98655 |
|
| prefixIRI |
ORDO:Orphanet_63 |
|
| prefLabel |
Alport syndrome |
|
| present_in |
Europe AND has_point_prevalence_range : Unknown Finland AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_90642 http://www.orpha.net/ORDO/Orphanet_98655 |
|
| subClassOf |