Acidosis disorder

Summary

Acidosis disorder (MONDO:0006022) is a disease with 1 GWAS associations across 8 studies and 12 clinical trials. Top therapeutic interventions include ephedrine, norepinephrine, and powdered cellulose. A subtype of disorder of acid-base balance — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acidosis disorder
Mondo ID	MONDO:0006022
EFO	EFO:1000014
ICD-10-CM	E87.2
SNOMED CT	51387008
UMLS	C0001122
MedGen	1296
Is cancer (heuristic)	no

Also known as: acidosis

Data availability: 1 GWAS association (8 studies) · 1 HPO phenotype.

Disease family

This is a subtype of disorder of acid-base balance. 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

Subtypes (3): metabolic acidosis, renal tubular acidosis, alcoholic ketoacidosis

Genetics & variants

GWAS landscape

1 GWAS associations across 8 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7148272	2e-07	NPAS3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477417	Verma A	2024	8,838	428,040	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477416	Verma A	2024	3,926	113,147	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480885	Verma A	2024	3,926	113,147	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079775	Backman JD	2021	1,660	386,169	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083761	Backman JD	2021	1,660	386,169	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477415	Verma A	2024	1,230	56,900	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435776	Zhou W	2018	1,055	401,506	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90652017	Liu TY	2025	846	219,134	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7148272	14	33637523	G>A	0.05	intron_variant	NPAS3	2e-07	Tier 4: intronic/intergenic

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

Drugs indicated or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Tromethamine	Approved (phase 4)

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Veverimer	Phase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 12.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9
PHASE4	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03102996	PHASE4	COMPLETED	Preserve-Transplant Study
NCT06921473	PHASE4	COMPLETED	Effect of Ephedrine vs. Norepinephrine on Prevention of Fetal Acidosis During Cesarean Section Under Spinal Anesthesia
NCT02809183	PHASE1/PHASE2	COMPLETED	Evaluation of TRC101 in Subjects With Chronic Kidney Disease and Metabolic Acidosis
NCT07099963	Not specified	RECRUITING	Frequency and Severity of Respiratory Acidosis During One-lung Ventilation, a Retrospective Pilot Study to Compare Clinician Settings and Those Proposed by the VentilO Application
NCT00905502	Not specified	COMPLETED	Intraoperative Fluid Management in Laparoscopic Bariatric Surgery
NCT01119170	Not specified	COMPLETED	Safety of D-lactate Producing Probiotics
NCT01831492	Not specified	COMPLETED	Effects of Zeolite + Dolomite on Performance and Acidosis
NCT02862925	Not specified	COMPLETED	Introducing Fetal Scalp Stimulation as an Adjunct to Intermittent Auscultation in Low-Resource Settings.
NCT03309423	Not specified	UNKNOWN	Is Venous to Arterial Conversion (v-TAC) of Blood Gas Reliable in Critical Ill Patients in the ICU?
NCT04231045	Not specified	COMPLETED	The Impact of the pH on Cardiac Function in the Critically Ill Patient
NCT04459442	Not specified	UNKNOWN	Placental Transfusion in the ‘Natural’ Delivery: Effect of Early and Late Umbilical Cord Clamping
NCT05669313	Not specified	COMPLETED	The Effects of Hypothermia and Acidosis on Coagulation During Treatment With Rivaroxaban Measured With ROTEM

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EPHEDRINE	4	1
NOREPINEPHRINE	4	1
POWDERED CELLULOSE	3	1
VEVERIMER	3	1
CHEMBL432	0	1