Disorder of acid-base balance

Summary

Disorder of acid-base balance (MONDO:0041261) is a disease with 4 GWAS associations across 13 studies. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of acid-base balance
Mondo ID	MONDO:0041261
SNOMED CT	26436007
UMLS	C0268029
MedGen	541141
Is cancer (heuristic)	no

Also known as: disorder of acid-base balance

Data availability: 4 GWAS associations (13 studies).

Disease family

This is a subtype of metabolic disease. 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

Related subtypes (36): glutaric aciduria, mineral metabolism disease, xanthinuria, chondrocalcinosis, ochronosis disorder, glucose metabolism disease, diabetic kidney disease, xanthoma, diabetic retinopathy, hypertriglyceridemia, gout, lactic acidosis, acquired metabolic disease, lipodystrophy, developmental anomaly of metabolic origin, dopa-responsive dystonia, hypoalphalipoproteinemia, steroid dehydrogenase deficiency-dental anomalies syndrome, inborn errors of metabolism, vitamin B12 deficiency, proteostasis deficiencies, hyperlipidemia, disorder of GPI anchor biosynthesis, bilirubin metabolism disease, hyperlipoproteinemia, carbohydrate metabolism disease, porphyrin metabolism disease, purine metabolism disease, amino acid metabolism disease, pyrimidine metabolism disease, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis

Subtypes (1): acidosis disorder

Genetics & variants

GWAS landscape

4 GWAS associations across 13 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1229984	2e-13	ADH1B	T	0.12
rs6146296	4e-07	LINC01478 - SETBP1-DT	?
rs9924554	8e-07	CDYL2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475749	Verma A	2024	74,426	323,713	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477403	Verma A	2024	24,830	81,326	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479947	Verma A	2024	24,830	81,326	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652212	Liu TY	2025	10,558	219,134	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477414	Verma A	2024	10,439	424,044	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477401	Verma A	2024	8,476	44,893	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435769	Zhou W	2018	7,455	401,506	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477413	Verma A	2024	4,455	112,020	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480890	Verma A	2024	4,455	112,020	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477412	Verma A	2024	1,422	56,474	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

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

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1229984	4	99318162	T>A,C,G	0.036	missense_variant	ADH1B	2e-13	Tier 1: coding
rs6146296	18	44663666	TCTTCAGCAGTAGG>T,TCTTCAGCAGTAGGCTTCAGCAGTAGG	0.05	intron_variant	LINC01478 - SETBP1-DT	4e-07	Tier 4: intronic/intergenic
rs9924554	16	80618396	A>C,G	0.05	intron_variant	CDYL2	8e-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

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.