loading...| Preferred Name |
Autosomal recessive polycystic kidney disease |
|
| Synonyms |
AR-PKD |
|
| Definitions |
A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_731 |
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| alternative_term |
AR-PKD |
|
| definition |
A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:GB8Y UMLS:C0085548 OMIM:617610 ICD-10:Q61.1 OMIM:263200 MedDRA:10036047 MeSH:D017044 |
|
| label |
Autosomal recessive polycystic kidney disease |
|
| notation |
ORPHA:731 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_399824 http://www.orpha.net/ORDO/Orphanet_101939 http://www.orpha.net/ORDO/Orphanet_156162 |
|
| prefixIRI |
ORDO:Orphanet_731 |
|
| prefLabel |
Autosomal recessive polycystic kidney disease |
|
| present_in |
Germany AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_399824 http://www.orpha.net/ORDO/Orphanet_101939 http://www.orpha.net/ORDO/Orphanet_156162 |
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| subClassOf |