Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Distal renal tubular acidosis
Synonyms

Renal tubular acidosis type 1

Familial distal primary acidosis

Classic RTA

dRTA

Definitions

A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.

ID

http://www.orpha.net/ORDO/Orphanet_18

alternative_term

Renal tubular acidosis type 1

Familial distal primary acidosis

Classic RTA

dRTA

definition

A rare genetic or acquired renal tubular disease characterized by hyperchloremic metabolic acidosis. Primary distal renal tubular acidosis (dRTA) is often associated with hypokalemia, other forms with hypokalemia, hyperkalemia or normokalemia.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=18

has_age_of_onset

All ages

has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant

hasDbXref

MedDRA:10045224

ICD-11:GB90.44

ICD-10:N25.8

OMIM:611590

OMIM:267300

UMLS:C1704380

OMIM:179800

OMIM:602722

label

Distal renal tubular acidosis

notation

ORPHA:18

part_of

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_314822

prefixIRI

ORDO:Orphanet_18

prefLabel

Distal renal tubular acidosis

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_314822

subClassOf

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

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

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