Gingival disorder

Summary

Gingival disorder (MONDO:0002021) is a disease (an umbrella term covering 6 Mondo subtypes) with 1 cohort gene.

At a glance

• Umbrella term: 6 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 250

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	gingival disorder
Mondo ID	MONDO:0002021
EFO	EFO:0009670
MeSH	D005882
DOID	DOID:1483
NCIT	C173795
SNOMED CT	18718003
UMLS	C0017563
MedGen	42217
Anatomy (UBERON)	UBERON:0001828
Is cancer (heuristic)	no

Also known as: disease of gingiva · disease or disorder of gingiva · disorder of gingiva · gingiva disease · gingiva disease or disorder

Data availability: 250 ClinVar variants.

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › periodontal disorder › gingival disorder

Related subtypes (3): periodontitis, Papillon-Lefevre disease, regional odontodysplasia

Subtypes (6): gingival recession, gingival overgrowth, gingivitis, pericoronitis, gingival neoplasm, leukoplakia of gingiva

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

250 retrieved; paginated sample, class counts are floors:

143 uncertain significance, 87 likely benign, 17 benign, 2 conflicting classifications of pathogenicity, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1387279	NM_002029.4(FPR1):c.512C>T (p.Thr171Met)	FPR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2084740	NM_002029.4(FPR1):c.583G>A (p.Val195Ile)	FPR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1009944	NM_002029.4(FPR1):c.976G>A (p.Glu326Lys)	FPR1	Uncertain significance	criteria provided, single submitter
1021976	NM_002029.4(FPR1):c.80T>A (p.Ile27Asn)	FPR1	Uncertain significance	criteria provided, single submitter
1025583	NM_002029.4(FPR1):c.121G>A (p.Val41Ile)	FPR1	Uncertain significance	criteria provided, single submitter
1026436	NM_002029.4(FPR1):c.824T>C (p.Met275Thr)	FPR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1036271	NM_002029.4(FPR1):c.926G>A (p.Arg309Gln)	FPR1	Uncertain significance	criteria provided, single submitter
1056255	NM_002029.4(FPR1):c.407A>C (p.His136Pro)	FPR1	Uncertain significance	criteria provided, single submitter
1345800	NM_002029.4(FPR1):c.707C>G (p.Ser236Cys)	FPR1	Uncertain significance	criteria provided, single submitter
1349840	NM_002029.4(FPR1):c.456G>A (p.Met152Ile)	FPR1	Uncertain significance	criteria provided, single submitter
1360567	NM_002029.4(FPR1):c.476C>G (p.Pro159Arg)	FPR1	Uncertain significance	criteria provided, single submitter
1364000	NM_002029.4(FPR1):c.161G>A (p.Arg54Gln)	FPR1	Uncertain significance	criteria provided, single submitter
1367094	NM_002029.4(FPR1):c.623T>C (p.Ile208Thr)	FPR1	Uncertain significance	criteria provided, single submitter
1369976	NM_002029.4(FPR1):c.821G>C (p.Gly274Ala)	FPR1	Uncertain significance	criteria provided, single submitter
1396354	NM_002029.4(FPR1):c.556G>A (p.Asp186Asn)	FPR1	Uncertain significance	criteria provided, single submitter
1397266	NM_002029.4(FPR1):c.445C>T (p.Pro149Ser)	FPR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1398802	NM_002029.4(FPR1):c.367C>T (p.Arg123Cys)	FPR1	Uncertain significance	criteria provided, single submitter
1414778	NM_002029.4(FPR1):c.466C>T (p.Leu156Phe)	FPR1	Uncertain significance	criteria provided, single submitter
1415782	NM_002029.4(FPR1):c.275C>T (p.Pro92Leu)	FPR1	Uncertain significance	criteria provided, single submitter
1418814	NM_002029.4(FPR1):c.139G>T (p.Val47Leu)	FPR1	Uncertain significance	criteria provided, single submitter
1449872	NM_002029.4(FPR1):c.652G>T (p.Ala218Ser)	FPR1	Uncertain significance	criteria provided, single submitter
1476955	NM_002029.4(FPR1):c.851A>G (p.Asp284Gly)	FPR1	Uncertain significance	criteria provided, single submitter
1480296	NM_002029.4(FPR1):c.1016C>T (p.Thr339Ile)	FPR1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1493466	NM_002029.4(FPR1):c.272G>A (p.Trp91Ter)	FPR1	Uncertain significance	criteria provided, single submitter
1501594	NM_002029.4(FPR1):c.758G>T (p.Cys253Phe)	FPR1	Uncertain significance	criteria provided, single submitter
1502924	NM_002029.4(FPR1):c.487C>T (p.Arg163Cys)	FPR1	Uncertain significance	criteria provided, single submitter
1511796	NC_000019.9:g.(?52249195)(52250247_?)dup	FPR1	Uncertain significance	criteria provided, single submitter
1515599	NM_002029.4(FPR1):c.257C>T (p.Ala86Val)	FPR1	Uncertain significance	criteria provided, single submitter
1523521	NM_002029.4(FPR1):c.301G>A (p.Val101Ile)	FPR1	Uncertain significance	criteria provided, single submitter
1719064	NM_002029.4(FPR1):c.589A>G (p.Met197Val)	FPR1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FPR1	Orphanet:447740	Aggressive periodontitis

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
FPR1	HGNC:3826	ENSG00000171051	P21462	N-formyl peptide receptor 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FPR1	N-formyl peptide receptor 1	Pattern recognition G-protein coupled receptor (PRR/GPCR) involved in innate recognition of N-formyl-methionyl peptides derived from invading microbes and host mitochondria as pathogen- and damage-associated molecular patterns (PAMPs and D…

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FPR1	GPCR	yes	3.1.4.4	GPCR_Rhodpsn, Formyl_rcpt-rel, GPCR_Rhodpsn_7TM

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
blood	1
leukocyte	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FPR1	215	broad	marker	blood, monocyte, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FPR1	1,782

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FPR1	P21462	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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
Formyl peptide receptors bind formyl peptides and many other ligands	1	1427.5×	0.003	FPR1
Interleukin-10 signaling	1	233.1×	0.009	FPR1
G alpha (i) signalling events	1	39.0×	0.034	FPR1
Neutrophil degranulation	1	23.1×	0.043	FPR1

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
obsolete nitric oxide mediated signal transduction	1	1296.3×	0.004	FPR1
complement receptor mediated signaling pathway	1	1123.5×	0.004	FPR1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1	337.0×	0.009	FPR1
chemotaxis	1	135.9×	0.013	FPR1
phospholipase C-activating G protein-coupled receptor signaling pathway	1	131.7×	0.013	FPR1
positive regulation of cytosolic calcium ion concentration	1	117.0×	0.013	FPR1
inflammatory response	1	37.7×	0.031	FPR1
G protein-coupled receptor signaling pathway	1	36.2×	0.031	FPR1
signal transduction	1	16.1×	0.062	FPR1

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Sodium Monofluorophosphate	Approved (phase 4)

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
FPR1	PHENYLBUTAZONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FPR1	11	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PHENYLBUTAZONE	4	FPR1
MONTELUKAST SODIUM	4	FPR1
CINACALCET HYDROCHLORIDE	4	FPR1
PENICILLIN G POTASSIUM	4	FPR1
APREPITANT	4	FPR1
LOPERAMIDE HYDROCHLORIDE	4	FPR1
PERPHENAZINE	4	FPR1
SULFINPYRAZONE	4	FPR1
FORETINIB	2	FPR1
NIGULDIPINE	2	FPR1
BMS-986235	1	FPR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
FPR1	138	Functional:85, Binding:53

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
FPR1	3.1.4.4	phospholipase D

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
FPR1	138

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

11 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.

Compound	Max phase	Cohort target (bioactivity)
PHENYLBUTAZONE	4	FPR1
MONTELUKAST SODIUM	4	FPR1
CINACALCET HYDROCHLORIDE	4	FPR1
PENICILLIN G POTASSIUM	4	FPR1
APREPITANT	4	FPR1
LOPERAMIDE HYDROCHLORIDE	4	FPR1
PERPHENAZINE	4	FPR1
SULFINPYRAZONE	4	FPR1
FORETINIB	2	FPR1
NIGULDIPINE	2	FPR1
BMS-986235	1	FPR1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	FPR1
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.