Carbohydrate metabolism disease

Summary

Carbohydrate metabolism disease (MONDO:0037792) is a disease (an umbrella term covering 6 Mondo subtypes) with 2 GWAS associations across 4 studies. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	carbohydrate metabolism disease
Mondo ID	MONDO:0037792
SNOMED CT	20957000
UMLS	C0149670
MedGen	472889
Is cancer (heuristic)	no

Also known as: carbohydrate metabolic process disease · disorder of carbohydrate metabolic process · disorder of carbohydrate metabolism

Data availability: 2 GWAS associations (4 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 › carbohydrate metabolism disease

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, porphyrin metabolism disease, purine metabolism disease, amino acid metabolism disease, pyrimidine metabolism disease, disorder of acid-base balance, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis

Subtypes (6): acquired carbohydrate metabolism disease, intestinal disaccharidase deficiency, scurvy, inborn carbohydrate metabolic disorder, glycerol metabolism disease, carbohydrate transport disease

Genetics & variants

GWAS landscape

2 GWAS associations across 4 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
rs11616893	1e-08	COL4A1	?
rs12873154	1e-08	COL4A1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651475	Liu TY	2025	704	235,808	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90651462	Liu TY	2025	702	235,808	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481625	Verma A	2024	463	450,446	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473217	UK Biobank Whole-Genome Sequencing Consortium	2025	407	458,033	Whole-genome sequencing of 490,640 UK Biobank participants.

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	2

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11616893	13	110266527	A>T	0.05	intron_variant	COL4A1	1e-08	Tier 4: intronic/intergenic
rs12873154	13	110268505	A>G	0.05	intron_variant	COL4A1	1e-08	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.