Metaphyseal anadysplasia

Summary

Metaphyseal anadysplasia (MONDO:0015177) is a disease with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 2
• ClinVar variants: 50
• Phenotypes (HPO): 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		27	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000944	Abnormal metaphysis morphology	Very frequent (80-99%)
HP:0001387	Joint stiffness	Very frequent (80-99%)
HP:0002814	Abnormality of the lower limb	Very frequent (80-99%)
HP:0004039	Abnormality of ulnar metaphysis	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0005930	Abnormality of epiphysis morphology	Very frequent (80-99%)
HP:0006487	Bowing of the long bones	Very frequent (80-99%)
HP:0006501	Aplasia/Hypoplasia of the radius	Very frequent (80-99%)
HP:0040071	Abnormal morphology of ulna	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	metaphyseal anadysplasia
Mondo ID	MONDO:0015177
MeSH	C537351
OMIM	309645
Orphanet	1040
ICD-11	327336919
SNOMED CT	254085009
UMLS	C0432226
MedGen	96582
GARD	0003562
Is cancer (heuristic)	no

Also known as: early-onset regressive form of metaphyseal dysplasia · MAD · Maroteaux Verloes Stanescu syndrome · Maroteaux-Verloes-Stanescu syndrome · regressive metaphyseal dysplasia

Data availability: 50 ClinVar variants · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › skeletal dysplasia › metaphyseal anadysplasia

Related subtypes (118): osteochondrodysplasia, diaphyseal medullary stenosis-bone malignancy syndrome, fibular aplasia-ectrodactyly syndrome, cerebrocostomandibular syndrome, cleidorhizomelic syndrome, dyschondrosteosis-nephritis syndrome, dysplasia epiphysealis hemimelica, carpotarsal osteochondromatosis, Camurati-Engelmann disease, genochondromatosis, autosomal dominant osteosclerosis, Worth type, coxopodopatellar syndrome, Lenz-Majewski hyperostotic dwarfism, delayed membranous cranial ossification, metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, oculodentodigital dysplasia, Ollier disease, osteoglophonic dysplasia, parietal foramina with cleidocranial dysplasia, chondromalacia patellae, Currarino triad, Proteus syndrome, brachydactyly-elbow wrist dysplasia syndrome, tricho-dento-osseous syndrome, bird headed-dwarfism, Montreal type, Yunis-Varon syndrome, split hand-foot malformation 1 with sensorineural hearing loss, ghosal hematodiaphyseal dysplasia, hyperostosis corticalis generalisata, Larsen-like syndrome, B3GAT3 type, mesomelic dwarfism-cleft palate-camptodactyly syndrome, metaphyseal acroscyphodysplasia, metaphyseal dysostosis-intellectual disability-conductive deafness syndrome, familial osteodysplasia, Anderson type, pseudodiastrophic dysplasia, rhizomelic syndrome, Urbach type, Richieri Costa-Pereira syndrome, craniometadiaphyseal dysplasia, wormian bone type, Weaver syndrome, SHOX-related short stature, craniofrontonasal syndrome, Eiken syndrome, 2q37 microdeletion syndrome, skeletal dysplasia-epilepsy-short stature syndrome, rhizomelic dysplasia, Patterson-Lowry type, pelvic dysplasia-arthrogryposis of lower limbs syndrome, Marshall-Smith syndrome, baby rattle pelvis dysplasia, metaphyseal dysplasia, Braun-Tinschert type, genitopatellar syndrome, osteofibrous dysplasia, Larsen-like osseous dysplasia-short stature syndrome, pancreatic insufficiency-anemia-hyperostosis syndrome, microcephalic primordial dwarfism due to ZNF335 deficiency, Hartsfield-Bixler-Demyer syndrome, colobomatous microphthalmia-rhizomelic dysplasia syndrome, Tatton-Brown-Rahman overgrowth syndrome, tall stature-scoliosis-macrodactyly of the great toes syndrome, Catel-Manzke syndrome, cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, complex lethal osteochondrodysplasia, amniotic band syndrome, syndromic craniosynostosis, thin ribs-tubular bones-dysmorphism syndrome, dysplasia of head of femur, Meyer type, epimetaphyseal skeletal dysplasia, melorheostosis with osteopoikilosis, Cole-Carpenter syndrome, spondylometaphyseal dysplasia, omodysplasia, Bruck syndrome, osteopetrosis, congenital absence of upper arm and forearm with hand present, congenital absence of thigh and lower leg with foot present, congenital absence of both forearm and hand, congenital absence of both lower leg and foot, acheiria, apodia, chondroectodermal dysplasia with night blindness, TRPV4-related bone disorder, adactyly of foot, short stature-advanced bone age-early-onset osteoarthritis syndrome, McCune-Albright syndrome, parietal foramina, Sotos syndrome, dysspondyloenchondromatosis, autosomal recessive cutis laxa type 2, FGFR3-related chondrodysplasia, filamin-related bone disorder, short rib dysplasia, spondylodysplastic dysplasia, acromelic dysplasia, bent bone dysplasia, chondrodysplasia punctata, primary osteolysis, non-syndromic limb reduction defect, Robinow syndrome, synpolydactyly, acrocoxomesomelic dysplasia, bone dysplasia Moore type, bone dysplasia corpus callosum agenesis, type 2 collagenopathy, LRP5-related primary osteoporosis, SLC26A2-related skeletal dysplasia, COMP-related skeletal dysplasia, primordial dwarfism and slender bone disorder, polydactyly-syndactyly-triphalangism, lysosomal storage disease with skeletal involvement, abnormal mineralization disorder, calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, de la Chapelle dysplasia, mesomelic dysplasia-digital anomalies-intellectual disability syndrome, proximal femoral focal deficiency, rhizomelic dysplasia, Ain-Naz type, craniotubular dysplasia, Ikegawa type, TRIP11-related skeletal dysplasia, FAM111A-related skeletal dysplasia

Subtypes (1): metaphyseal anadysplasia 2

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

50 retrieved; paginated sample, class counts are floors:

21 uncertain significance, 17 conflicting classifications of pathogenicity, 9 benign/likely benign, 3 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
301991	NM_002427.4(MMP13):c.138C>T (p.Tyr46=)	LOC126861318	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301992	NM_002427.4(MMP13):c.52C>T (p.Arg18Trp)	LOC126861318	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
196346	NM_002427.4(MMP13):c.438C>T (p.Ser146=)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301958	NM_002427.4(MMP13):c.*1219A>C	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301973	NM_002427.4(MMP13):c.*160G>A	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301974	NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301975	NM_002427.4(MMP13):c.1315+15T>C	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301981	NM_002427.4(MMP13):c.968C>T (p.Thr323Met)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301982	NM_002427.4(MMP13):c.951T>G (p.Asp317Glu)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301983	NM_002427.4(MMP13):c.935A>G (p.His312Arg)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301987	NM_002427.4(MMP13):c.770A>T (p.Asp257Val)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301989	NM_002427.4(MMP13):c.509A>C (p.Lys170Thr)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
717251	NM_002427.4(MMP13):c.1101C>G (p.Pro367=)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
879276	NM_002427.4(MMP13):c.*156A>G	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
879278	NM_002427.4(MMP13):c.*13A>T	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
880460	NM_002427.4(MMP13):c.1315+12C>T	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
880506	NM_002427.4(MMP13):c.756T>C (p.Phe252=)	MMP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
301990	NM_002427.4(MMP13):c.301G>T (p.Val101Leu)	LOC126861318	Uncertain significance	criteria provided, multiple submitters, no conflicts
301959	NM_002427.4(MMP13):c.*1102T>C	MMP13	Uncertain significance	criteria provided, single submitter
301960	NM_002427.4(MMP13):c.*1007T>C	MMP13	Uncertain significance	criteria provided, single submitter
301964	NM_002427.4(MMP13):c.*771T>G	MMP13	Uncertain significance	criteria provided, single submitter
301965	NM_002427.4(MMP13):c.*756A>G	MMP13	Uncertain significance	criteria provided, single submitter
301967	NM_002427.4(MMP13):c.*436G>C	MMP13	Uncertain significance	criteria provided, single submitter
301971	NM_002427.4(MMP13):c.*275T>C	MMP13	Uncertain significance	criteria provided, single submitter
301972	NM_002427.4(MMP13):c.*264C>T	MMP13	Uncertain significance	criteria provided, single submitter
301977	NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe)	MMP13	Uncertain significance	criteria provided, single submitter
301978	NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly)	MMP13	Uncertain significance	criteria provided, single submitter
301980	NM_002427.4(MMP13):c.997C>T (p.Arg333Cys)	MMP13	Uncertain significance	criteria provided, multiple submitters, no conflicts
301988	NM_002427.4(MMP13):c.686G>T (p.Gly229Val)	MMP13	Uncertain significance	criteria provided, single submitter
877656	NM_002427.4(MMP13):c.*723A>T	MMP13	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 14 · Orphanet: 4 · 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
MMP13	Definitive	Autosomal recessive	metaphyseal chondrodysplasia, Spahr type	11
MMP9	Strong	Autosomal recessive	metaphyseal anadysplasia 2	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MMP13	Orphanet:1040	Metaphyseal anadysplasia
MMP13	Orphanet:2501	Metaphyseal chondrodysplasia, Spahr type
MMP13	Orphanet:93356	Spondyloepimetaphyseal dysplasia, Missouri type
MMP9	Orphanet:1040	Metaphyseal anadysplasia

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MMP13	HGNC:7159	ENSG00000137745	P45452	Collagenase 3	gencc,clinvar
MMP9	HGNC:7176	ENSG00000100985	P14780	Matrix metalloproteinase-9	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MMP13	Collagenase 3	Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN.
MMP9	Matrix metalloproteinase-9	Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration.

Protein-family classification

Druggable: 2 · 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
Protease	2	36.6×	7e-04

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MMP13	Protease	yes	3.4.24.17	Hemopexin-like_dom, Pept_M10_metallopeptidase, Peptidoglycan-bd-like
MMP9	Protease	yes	3.4.24.35	FN_type2_dom, Hemopexin-like_dom, Pept_M10_metallopeptidase

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
periodontal ligament	2
tibia	2
cartilage tissue	1
trabecular bone tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MMP13	62	tissue_specific	marker	periodontal ligament, cartilage tissue, tibia
MMP9	204	broad	marker	periodontal ligament, trabecular bone tissue, tibia

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MMP9	6,708
MMP13	2,467

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MMP13	P45452	49
MMP9	P14780	29

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 29. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Collagen formation	2	456.8×	1e-04	MMP13, MMP9
Activation of Matrix Metalloproteinases	2	308.6×	1e-04	MMP13, MMP9
Assembly of collagen fibrils and other multimeric structures	2	200.3×	2e-04	MMP13, MMP9
Collagen degradation	2	175.7×	2e-04	MMP13, MMP9
Degradation of the extracellular matrix	2	117.7×	4e-04	MMP13, MMP9
Extracellular matrix organization	2	63.1×	0.001	MMP13, MMP9
RUNX2 regulates genes involved in cell migration	1	713.8×	0.006	MMP13
Transcriptional regulation by RUNX2	1	126.9×	0.026	MMP13
Signaling by SCF-KIT	1	124.1×	0.026	MMP9
EPH-ephrin mediated repulsion of cells	1	109.8×	0.026	MMP9
Extra-nuclear estrogen signaling	1	85.2×	0.029	MMP9
EPH-Ephrin signaling	1	82.8×	0.029	MMP9
ESR-mediated signaling	1	64.2×	0.035	MMP9
Interleukin-4 and Interleukin-13 signaling	1	51.4×	0.038	MMP9
Signaling by Nuclear Receptors	1	51.0×	0.038	MMP9
Signaling by Interleukins	1	32.1×	0.056	MMP9
Signaling by Receptor Tyrosine Kinases	1	25.8×	0.065	MMP9
Dengue Virus-Host Interactions	1	22.8×	0.067	MMP9
Axon guidance	1	22.6×	0.067	MMP9
Nervous system development	1	21.5×	0.067	MMP9
Cytokine Signaling in Immune system	1	20.4×	0.067	MMP9
Innate Immune System	1	12.8×	0.101	MMP9
Neutrophil degranulation	1	11.5×	0.105	MMP9
RNA Polymerase II Transcription	1	11.3×	0.105	MMP13
Gene expression (Transcription)	1	8.9×	0.126	MMP13
Generic Transcription Pathway	1	7.5×	0.143	MMP13
Developmental Biology	1	7.2×	0.143	MMP9
Immune System	1	6.5×	0.154	MMP9
Signal Transduction	1	5.1×	0.187	MMP9

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to amyloid-beta	2	991.3×	3e-05	MMP13, MMP9
collagen catabolic process	2	391.9×	7e-05	MMP13, MMP9
extracellular matrix disassembly	2	366.4×	7e-05	MMP13, MMP9
extracellular matrix organization	2	122.1×	5e-04	MMP13, MMP9
negative regulation of cation transmembrane transport	1	8426.0×	6e-04	MMP9
negative regulation of epithelial cell differentiation involved in kidney development	1	8426.0×	6e-04	MMP9
growth plate cartilage development	1	1053.2×	0.004	MMP13
proteolysis	2	34.2×	0.004	MMP13, MMP9
cellular response to UV-A	1	702.2×	0.004	MMP9
regulation of neuroinflammatory response	1	702.2×	0.004	MMP9
positive regulation of keratinocyte migration	1	648.1×	0.004	MMP9
positive regulation of DNA binding	1	601.9×	0.004	MMP9
positive regulation of release of cytochrome c from mitochondria	1	383.0×	0.006	MMP9
negative regulation of intrinsic apoptotic signaling pathway	1	383.0×	0.006	MMP9
bone morphogenesis	1	300.9×	0.007	MMP13
endochondral ossification	1	271.8×	0.007	MMP13
endodermal cell differentiation	1	247.8×	0.007	MMP9
positive regulation of epidermal growth factor receptor signaling pathway	1	247.8×	0.007	MMP9
macrophage differentiation	1	234.1×	0.007	MMP9
positive regulation of vascular associated smooth muscle cell proliferation	1	216.1×	0.007	MMP9
embryo implantation	1	175.5×	0.008	MMP9
ephrin receptor signaling pathway	1	172.0×	0.008	MMP9
positive regulation of protein phosphorylation	1	138.1×	0.009	MMP9
bone mineralization	1	135.9×	0.009	MMP13
skeletal system development	1	62.9×	0.019	MMP9
cellular response to lipopolysaccharide	1	49.0×	0.023	MMP9
cell migration	1	30.8×	0.036	MMP9
positive regulation of apoptotic process	1	28.4×	0.037	MMP9
negative regulation of apoptotic process	1	17.4×	0.059	MMP9
apoptotic process	1	14.3×	0.068	MMP9

Therapeutics

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 0

Druggability breadth: 2 of 2 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
MMP13	CHLOROXINE
MMP9	CHLOROXINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MMP9	26	4
MMP13	13	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CHLOROXINE	4	MMP13, MMP9
DOXYCYCLINE	4	MMP13
BUDESONIDE	4	MMP9
PRAZOSIN	4	MMP9
ZOLEDRONIC ACID	4	MMP9
SECOBARBITAL	4	MMP9
DACARBAZINE	4	MMP9
CHLORHEXIDINE	4	MMP9
ECONAZOLE	4	MMP9
BUSULFAN	4	MMP9
CURCUMIN	3	MMP13, MMP9
MARIMASTAT	3	MMP13, MMP9
QUERCETIN	3	MMP13, MMP9
PRINOMASTAT	3	MMP13, MMP9
CAFFEIC ACID	3	MMP9
CIPEMASTAT	2	MMP13, MMP9
LUTEOLIN	2	MMP13, MMP9
ILOMASTAT	2	MMP13, MMP9
APRATASTAT	2	MMP13, MMP9
TANOMASTAT	2	MMP13, MMP9
BATIMASTAT	2	MMP13, MMP9
CTS-1027	2	MMP13, MMP9
TOSEDOSTAT	2	MMP9
SOLIMASTAT	2	MMP9
REBIMASTAT	2	MMP9
AMINOQUINURIDE	2	MMP9
S-3304	1	MMP9

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
MMP9	713	Binding:685, ADMET:20, Functional:8
MMP13	452	Binding:435, ADMET:8, Functional:6, Unclassified:3

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MMP13	3.4.24.17, 3.4.24.35, 3.4.24.65, 3.4.24.B4	stromelysin 1, gelatinase B, macrophage elastase,
MMP9	3.4.24.35	gelatinase B

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
MMP13	452
MMP9	713

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

27 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)
CHLOROXINE	4	MMP13, MMP9
DOXYCYCLINE	4	MMP13
BUDESONIDE	4	MMP9
PRAZOSIN	4	MMP9
ZOLEDRONIC ACID	4	MMP9
SECOBARBITAL	4	MMP9
DACARBAZINE	4	MMP9
CHLORHEXIDINE	4	MMP9
ECONAZOLE	4	MMP9
BUSULFAN	4	MMP9
CURCUMIN	3	MMP13, MMP9
MARIMASTAT	3	MMP13, MMP9
QUERCETIN	3	MMP13, MMP9
PRINOMASTAT	3	MMP13, MMP9
CAFFEIC ACID	3	MMP9
CIPEMASTAT	2	MMP13, MMP9
LUTEOLIN	2	MMP13, MMP9
ILOMASTAT	2	MMP13, MMP9
APRATASTAT	2	MMP13, MMP9
TANOMASTAT	2	MMP13, MMP9
BATIMASTAT	2	MMP13, MMP9
CTS-1027	2	MMP13, MMP9
TOSEDOSTAT	2	MMP9
SOLIMASTAT	2	MMP9
REBIMASTAT	2	MMP9
AMINOQUINURIDE	2	MMP9
S-3304	1	MMP9

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	MMP13, MMP9
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.