Intestinal disaccharidase deficiency

Summary

Intestinal disaccharidase deficiency (MONDO:0004905) is a disease with 6 GWAS associations across 6 studies. A subtype of malabsorption syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intestinal disaccharidase deficiency
Mondo ID	MONDO:0004905
EFO	EFO:1000060
DOID	DOID:9868
NCIT	C34731
SNOMED CT	22169002
UMLS	C0699848
MedGen	675093
Anatomy (UBERON)	UBERON:0000160, UBERON:0001007
Is cancer (heuristic)	no

Also known as: intestinal disaccharidase deficiency and disaccharide malabsorption

Data availability: 6 GWAS associations (6 studies).

Disease family

This is a subtype of malabsorption syndrome. 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 body system or component › digestive system disorder › intestinal disorder › malabsorption syndrome › intestinal disaccharidase deficiency

Related subtypes (8): tropical sprue, celiac disease, blind loop syndrome, hereditary folate malabsorption, lysine malabsorption syndrome, idiopathic malabsorption due to bile acid synthesis defects, autoimmune enteropathy, lactose intolerance

Subtypes (1): congenital sucrase-isomaltase deficiency

Genetics & variants

GWAS landscape

6 GWAS associations across 6 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs560887	5e-22	SPC25, G6PC2	T	0.13
rs17476364	9e-18	HK1	T	0.19
chr10:71099109	9e-15		A	0.18
rs741037	1e-12	GCK	G	0.09

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475712	Verma A	2024	11,891	426,970	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477382	Verma A	2024	5,430	111,591	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479922	Verma A	2024	5,430	111,591	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477381	Verma A	2024	2,307	55,462	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481624	Verma A	2024	274	6,309	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435752	Zhou W	2018	141	408,798	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
unknown	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs560887	2	168906638	T>A,C,G	0.237	intron_variant	SPC25, G6PC2	5e-22	Tier 4: intronic/intergenic
rs17476364	10	69334748	T>C	0.079	intron_variant	HK1	9e-18	Tier 4: intronic/intergenic
chr10:71099109				0.104			9e-15	Tier 4: intronic/intergenic
rs741037	7	44193234	G>A	0.194	intergenic_variant	GCK	1e-12	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.