Megacystis-microcolon-intestinal hypoperistalsis syndrome 3

disease

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Also known as MMIHS3

Summary

Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (MONDO:0030294) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Mondo ID	MONDO:0030294
OMIM	619362
UMLS	C5543513
MedGen	1780019
GARD	0027924
Is cancer (heuristic)	no

Also known as: megacystis-microcolon-intestinal hypoperistalsis syndrome 3 · MMIHS3

Data availability: 5 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › megacystis-microcolon-intestinal hypoperistalsis syndrome › megacystis-microcolon-intestinal hypoperistalsis syndrome 3

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

5 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1172756	NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met)	LMOD1	Pathogenic	no assertion criteria provided
1172757	NM_012134.3(LMOD1):c.1262G>A (p.Arg421His)	LMOD1	Pathogenic	no assertion criteria provided
264986	NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)	LMOD1	Pathogenic	no assertion criteria provided
3064415	NM_012134.3(LMOD1):c.1433G>A (p.Arg478Gln)	LMOD1	Uncertain significance	criteria provided, single submitter
3065391	NM_012134.3(LMOD1):c.139G>A (p.Val47Met)	LMOD1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
LMOD1	Moderate	Autosomal recessive	megacystis-microcolon-intestinal hypoperistalsis syndrome 3	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
LMOD1	Orphanet:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome

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
LMOD1	HGNC:6647	ENSG00000163431	P29536	Leiomodin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LMOD1	Leiomodin-1	Required for proper contractility of visceral smooth muscle 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)
LMOD1	Other/Unknown	no		WH2_dom, TMOD, LRR_dom_sf

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
popliteal artery	1
right coronary artery	1
tibial artery	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LMOD1	245	broad	marker	right coronary artery, popliteal artery, tibial artery

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LMOD1	968

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
LMOD1	P29536	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
Smooth Muscle Contraction	1	265.6×	0.008	LMOD1
Muscle contraction	1	77.2×	0.013	LMOD1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
pointed-end actin filament capping	1	2407.4×	0.002	LMOD1
actin nucleation	1	1872.4×	0.002	LMOD1
myofibril assembly	1	1123.5×	0.002	LMOD1
positive regulation of actin filament polymerization	1	330.4×	0.005	LMOD1
muscle contraction	1	208.1×	0.006	LMOD1
actin filament organization	1	118.7×	0.008	LMOD1

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LMOD1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	LMOD1

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)
LMOD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: LMOD1