Familial mitral valve prolapse

Summary

Familial mitral valve prolapse (MONDO:0008004) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial mitral valve prolapse
Mondo ID	MONDO:0008004
OMIM	157700
Orphanet	741
SNOMED CT	233858000
UMLS	C0340364
MedGen	573696
GARD	0003687
Is cancer (heuristic)	no

Also known as: hereditary mitral valve prolapse (disease) · mitral valve prolapse, familial · mitral valve prolapse, familial, autosomal dominant · MVP

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › heart valve disorder › mitral valve disorder › mitral valve prolapse › familial mitral valve prolapse

Subtypes (3): mitral valve prolapse, myxomatous 2, mitral valve prolapse, myxomatous 3, MVP1

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 2 · 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
DCHS1	Strong	Autosomal dominant	mitral valve prolapse, myxomatous 2	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DCHS1	Orphanet:314679	Cerebrofacioarticular syndrome
DCHS1	Orphanet:741	Familial mitral valve prolapse

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
DCHS1	HGNC:13681	ENSG00000166341	Q96JQ0	Protocadherin-16	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DCHS1	Protocadherin-16	Calcium-dependent cell-adhesion protein.

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)
DCHS1	Other/Unknown	no		Cadherin-like_dom, Cadherin-like_sf, Cadherin_CS

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
cortical plate	1
ganglionic eminence	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DCHS1	259	broad	marker	tendon of biceps brachii, ganglionic eminence, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DCHS1	1,356

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DCHS1	Q96JQ0	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
mitral valve formation	1	5617.3×	0.001	DCHS1
condensed mesenchymal cell proliferation	1	5617.3×	0.001	DCHS1
cell migration involved in endocardial cushion formation	1	4213.0×	0.001	DCHS1
septin cytoskeleton organization	1	4213.0×	0.001	DCHS1
ossification involved in bone maturation	1	1404.3×	0.003	DCHS1
obsolete cell-cell adhesion via plasma-membrane adhesion molecules	1	1123.5×	0.003	DCHS1
hippo signaling	1	732.7×	0.003	DCHS1
post-anal tail morphogenesis	1	732.7×	0.003	DCHS1
neural tube development	1	526.6×	0.003	DCHS1
digestive tract development	1	526.6×	0.003	DCHS1
calcium-dependent cell-cell adhesion	1	481.5×	0.003	DCHS1
pattern specification process	1	468.1×	0.003	DCHS1
cochlea development	1	468.1×	0.003	DCHS1
branching involved in ureteric bud morphogenesis	1	366.4×	0.004	DCHS1
heterophilic cell-cell adhesion	1	337.0×	0.004	DCHS1
neurogenesis	1	208.1×	0.006	DCHS1
homophilic cell-cell adhesion	1	140.4×	0.008	DCHS1
protein localization to plasma membrane	1	108.7×	0.010	DCHS1
gene expression	1	79.9×	0.013	DCHS1
cell migration	1	61.5×	0.016	DCHS1

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
DCHS1	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	DCHS1

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)
DCHS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.