Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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

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

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

http://www.orpha.net/ORDO/Orphanet_156604

http://www.orpha.net/ORDO/Orphanet_400003

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

http://www.orpha.net/ORDO/Orphanet_156604

http://www.orpha.net/ORDO/Orphanet_400003

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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