raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:47159

Proximal renal tubular acidosis

Synonyms: Renal tubular acidosis type 2 · pRTA

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

A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enProximal renal tubular acidosisRenal tubular acidosis type 2 · pRTA
frAcidose tubulaire rénale proximaleATRp · Acidose tubulaire rénale type 2 · pRTA
deAzidose, renale tubuläre, proximaleAzidose, renale tubuläre, Typ 2 · pRTA
esAcidosis tubular renal proximalAcidosis tubular renal tipo 2 · pRTA
itAcidosi tubulare renale prossimaleAcidosi tubulare renale, tipo 2 · pRTA
nlProximale renale tubulaire acidoseRenale tubulaire acidose type 2 · pRTA
ptAcidose tubular renal proximalAcidose tubular renal proximal com alterações oculares · Acidose tubular renal tipo 2
plKwasica proksymalnych kanalików nerkowychKwasica kanalików nerkowych typu 2 · pRTA
csProximální renální tubulární acidózaRenální tubulární acidóza, typ 2 · pRTA
ukПроксимальний нирковий канальцевий ацидозPRTA · Нирковий тубулярний ацидоз 2 типу
zh近端肾小管性酸中毒肾小管性酸中毒2型
trProksimal renal tübüler asidozpRTA · Renal tübüler asidoz tip 2

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM179830Evalidated
OMIM604278BTNTvalidated
ICD-10N25.8NTBTattributedvalidated
ICD-11GB90.44NTBTindexvalidated
MONDO0008369Evalidated
UMLSC0268435Evalidated
MedDRA10037080Evalidated

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 (1):

Children (2):

4

Genes

0 direct · 1 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
SLC4A4ORPHA:93607Autosomal recessive proximal renal tubular acidosisDisease-causing germline mutation(s) inAssessedHGNC:11030ENSG000000804936033454q13.3solute carrier family 4 member 4
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET

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

34 annotations · validated 2021-01-19
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004910Bicarbonate-wasting renal tubular acidosis
HP:0004918Hyperchloremic metabolic acidosis
Frequent (79-30%)
HP:0003646Bicarbonaturia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002900Hypokalemia
HP:0002013Vomiting
Occasional (29-5%)
HP:0000478Abnormality of the eye
HP:0000924Abnormality of the skeletal system
HP:0003355Aminoaciduria
HP:0000585Band keratopathy
HP:0000518Cataract
HP:0001944Dehydration
HP:0002014Diarrhea
HP:0006285Enamel hypomineralization
HP:0000501Glaucoma
HP:0012573Global proximal tubulopathy
HP:0003076Glycosuria
HP:0002150Hypercalciuria
HP:0012605Hypernatriuria
HP:0003109Hyperphosphaturia
HP:0003149Hyperuricosuria
HP:0011106Hypovolemia
HP:0001249Intellectual disability
HP:0003126Low-molecular-weight proteinuria
HP:0002024Malabsorption
HP:0001530Mild postnatal growth retardation
HP:0000787Nephrolithiasis
HP:0001959Polydipsia
HP:0004349Reduced bone mineral density
Very rare (<4-1%)
HP:0000589Coloboma
HP:0000121Nephrocalcinosis
HP:0004322Short stature
HP:0001682Subvalvular aortic stenosis

Run the differential on the 2 obligate / very frequent terms

Annotation source: 31300090[PMID]_23235953[PMID]_28092281[PMID]_30139461[PMID]

7

Sources for this card