raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:18

Distal renal tubular acidosis

Synonyms: Classic RTA · Familial distal primary acidosis · Renal tubular acidosis type 1 · dRTA

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Age of onset
All ages
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDistal renal tubular acidosisClassic RTA · Familial distal primary acidosis · Renal tubular acidosis type 1 · dRTA
frAcidose tubulaire rénale distaleATR classique · ATRd · Acidose distale primitive familiale · Acidose tubulaire rénale type 1 · dRTA
deAzidose, renale tubuläre, distaleAzidose, renale tubuläre, Typ 1 · Familiäre distale primäre Azidose · RTA, klassisch · dRTA
esAcidosis tubular renal distalATR clásica · Acidosis tubular renal familiar · Acidosis tubular renal tipo 1 · dRTA
itAcidosi renale tubulare distaleAcidosi primtiva distale familiare · Acidosi tubulare renale, tipo 1 · RTA classica · dRTA
nlDistale renale tubulaire acidoseFamiliale distale primaire acidose · Klassieke RTA · Renale tubulaire acidose type 1 · dRTA
ptAcidose tubular renal distalAcidose distal primária familiar · Acidose tubular renal tipo 1 · RTA clássica · dRTA
plKwasica nerkowych kanalików dystalnychdRTA · Klasyczna RTA · Kwasica kanalików nerkowych typu 1 · Rodzinna pierwotna kwasica kanalików dystalnych
csDistální renální tubulární acidózaKlasická RTA · Familiární distální primární acidóza · Renální tubulární acidóza, typ I · dRTA
ukДистальний нирковий тубулярний ацидозКласичний RTA · dRTA · Сімейний дистальний первинний ацидоз · Нирковий тубулярний ацидоз типу 1
zh远端肾小管性酸中毒家族性远端原发性酸中毒
trDistal renal tübüler asidozdRTA · Klasik RTA · Renal tübüler asidoz tip 1 · Ailesel distal primer asidoz

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM179800BTNTvalidated
OMIM267300BTNTvalidated
OMIM602722BTNTvalidated
OMIM611590BTNTvalidated
ICD-10N25.8NTBTattributedvalidated
ICD-11GB90.44NTBTindexvalidated
MONDO0015827Evalidated
UMLSC1704380Evalidated
GARD4667Evalidated
MedDRA10045224Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (3):

4

Genes

0 direct · 6 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ATP6V0A4ORPHA:402041Autosomal recessive distal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:866ENSG000001059296052397q34ATPase H+ transporting V0 subunit a423729491[PMID]
ATP6V1B1ORPHA:402041Autosomal recessive distal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:853ENSG000001160391921322p13.3ATPase H+ transporting V1 subunit B123729491[PMID]
FOXI1ORPHA:402041Autosomal recessive distal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:3815ENSG000001682696010935q35.1forkhead box I129242249[PMID]
SLC4A1ORPHA:93608Autosomal dominant distal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:11027ENSG0000000493910927017q21.31solute carrier family 4 member 1 (Diego blood group)
SLC4A1ORPHA:93610Distal renal tubular acidosis with anemiaDisease-causing germline mutation(s) inAssessedHGNC:11027ENSG0000000493910927017q21.31solute carrier family 4 member 1 (Diego blood group)
WDR72ORPHA:402041Autosomal recessive distal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:26790ENSG0000016641561321415q21.3WD repeat domain 7230028003[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_22872862[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

38 annotations · validated 2020-12-16
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0032944Alkaline urine
HP:0001996Chronic metabolic acidosis
HP:0032066Decreased serum bicarbonate concentration
HP:0004918Hyperchloremic metabolic acidosis
HP:0012405Hypocitraturia
HP:0002900Hypokalemia
HP:0000121Nephrocalcinosis
HP:0004349Reduced bone mineral density
Frequent (79-30%)
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002150Hypercalciuria
HP:0012608Hypermagnesiuria
HP:0003109Hyperphosphaturia
HP:0001324Muscle weakness
HP:0000787Nephrolithiasis
HP:0000128Renal potassium wasting
HP:0004322Short stature
Occasional (29-5%)
HP:0003355Aminoaciduria
HP:0002653Bone pain
HP:0002019Constipation
HP:0012213Decreased glomerular filtration rate
HP:0001944Dehydration
HP:0002014Diarrhea
HP:0011387Enlarged vestibular aqueduct
HP:0002659Increased susceptibility to fractures
HP:0011964Intermittent painful muscle spasms
HP:0003126Low-molecular-weight proteinuria
HP:0002749Osteomalacia
HP:0001959Polydipsia
HP:0004396Poor appetite
HP:0000114Proximal tubulopathy
HP:0000107Renal cyst
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002748Rickets
HP:0000407Sensorineural hearing impairment
HP:0002013Vomiting
Very rare (<4-1%)
HP:0001878Hemolytic anemia
HP:0003470Paralysis

Run the differential on the 8 obligate / very frequent terms

Annotation source: 30139458[PMID]_31600044[PMID]

7

Sources for this card