Lactose intolerance adult type

Summary

Lactose intolerance adult type (MONDO:0006065) is a disease with 1 cohort gene and 3 clinical trials. Top therapeutic interventions include lactose, anhydrous.

At a glance

• Cohort genes: 1
• ClinVar variants: 6
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lactose intolerance adult type
Mondo ID	MONDO:0006065
EFO	EFO:1000063
OMIM	223100
Orphanet	319681
UMLS	C0268181
MedGen	75659
Is cancer (heuristic)	no

Also known as: adult lactase deficiency · disaccharide intolerance 3 · hypolactasia, adult type · lactase persistence/nonpersistence · lactose intolerance, ADULT type

Data availability: 6 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › nutritional disorder › lactose intolerance › lactose intolerance adult type

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

ClinVar germline variants

6 retrieved; paginated sample, class counts are floors:

6 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
2433675	NM_005915.6(MCM6):c.1366G>A (p.Val456Met)	MCM6	Uncertain significance	criteria provided, single submitter
2433676	NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)	MCM6	Uncertain significance	criteria provided, single submitter
2433677	NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)	MCM6	Uncertain significance	criteria provided, single submitter
3391031	NM_005915.6(MCM6):c.526C>T (p.Gln176Ter)	MCM6	Uncertain significance	criteria provided, single submitter
587497	NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)	MCM6	Uncertain significance	criteria provided, multiple submitters, no conflicts
587528	NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)	MCM6	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MCM6	HGNC:6949	ENSG00000076003	Q14566	DNA replication licensing factor MCM6	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MCM6	DNA replication licensing factor MCM6	Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for ‘once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MCM6	Other/Unknown	no		MCM_dom, MCM6, NA-bd_OB-fold

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
embryo	1
endometrium epithelium	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MCM6	288	ubiquitous	marker	ventricular zone, endometrium epithelium, embryo

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MCM6	3,606

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MCM6	Q14566	30

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
DNA strand elongation	1	1142.0×	0.008	MCM6
Unwinding of DNA	1	878.5×	0.008	MCM6
Activation of the pre-replicative complex	1	326.3×	0.008	MCM6
DNA Replication Pre-Initiation	1	317.2×	0.008	MCM6
Activation of ATR in response to replication stress	1	300.5×	0.008	MCM6
Switching of origins to a post-replicative state	1	300.5×	0.008	MCM6
Synthesis of DNA	1	300.5×	0.008	MCM6
DNA Replication	1	237.9×	0.008	MCM6
G1/S Transition	1	233.1×	0.008	MCM6
Mitotic G1 phase and G1/S transition	1	184.2×	0.008	MCM6
S Phase	1	181.3×	0.008	MCM6
Orc1 removal from chromatin	1	178.4×	0.008	MCM6
Assembly of the pre-replicative complex	1	139.3×	0.009	MCM6
G2/M Checkpoints	1	134.3×	0.009	MCM6
Cell Cycle Checkpoints	1	88.5×	0.013	MCM6
Cell Cycle, Mitotic	1	48.2×	0.022	MCM6
Cell Cycle	1	36.0×	0.028	MCM6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mitotic DNA replication	1	16852.0×	3e-04	MCM6
double-strand break repair via break-induced replication	1	1296.3×	0.002	MCM6
regulation of DNA-templated DNA replication initiation	1	1053.2×	0.002	MCM6
DNA replication initiation	1	624.1×	0.002	MCM6
DNA replication	1	165.2×	0.006	MCM6

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MCM6	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MCM6	12	Binding:12

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MCM6

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MCM6	12	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07424898	Not specified	ENROLLING_BY_INVITATION	Lactose Intolerance and Intestinal Permability
NCT05658861	Not specified	COMPLETED	Comparing the Gastric Transit of Commercial Milk and A2 Milk
NCT06724705	Not specified	COMPLETED	Testing the Capability of the Smart Underwear Device to Detect Increased Microbiome Activity Following Lactose Consumption

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LACTOSE, ANHYDROUS	3	1