Proximal renal tubular acidosis

Summary

Proximal renal tubular acidosis (MONDO:0008369) is a disease. A subtype of renal tubular acidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 34

Clinical features

Signs & symptoms

Clinical features (HPO)

34 HPO clinical features (Orphanet curated; top 34 by frequency):

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

Identifiers

Disease identifiers

Field	Value
Canonical name	proximal renal tubular acidosis
Mondo ID	MONDO:0008369
OMIM	179830
Orphanet	47159
DOID	DOID:0061165
SNOMED CT	24790002
UMLS	C0268435
MedGen	82804
GARD	0016644
MedDRA	10037080
Is cancer (heuristic)	no

Also known as: pRTA · renal tubular acidosis type 2 · Type 2 renal tubular acidosis · Type 2 RTA

Disease family

This is a subtype of renal tubular acidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › disorder of acid-base balance › acidosis disorder › renal tubular acidosis › proximal renal tubular acidosis

Related subtypes (4): renal tubular acidosis 3, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, neuroaxonal dystrophy renal tubular acidosis, hyperkalemic renal tubular acidosis

Subtypes (2): autosomal recessive proximal renal tubular acidosis, autosomal dominant proximal renal tubular acidosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.