Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Summary

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MONDO:0015912) is a disease caused by MYH9 (GenCC Definitive), with 3 cohort genes and 3 clinical trials.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: MYH9 (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 416
• Phenotypes (HPO): 16
• Clinical trials: 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.3	Europe	Validated
Point prevalence	1-9 / 1 000 000	0.29	Italy	Validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0001905	Congenital thrombocytopenia	Very frequent (80-99%)
HP:0000083	Renal insufficiency	Frequent (30-79%)
HP:0000093	Proteinuria	Frequent (30-79%)
HP:0000112	Nephropathy	Frequent (30-79%)
HP:0000123	Nephritis	Frequent (30-79%)
HP:0000132	Menorrhagia	Frequent (30-79%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000978	Bruising susceptibility	Frequent (30-79%)
HP:0001902	Giant platelets	Frequent (30-79%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Frequent (30-79%)
HP:0003010	Prolonged bleeding time	Frequent (30-79%)
HP:0004406	Spontaneous, recurrent epistaxis	Frequent (30-79%)
HP:0007819	Presenile cataracts	Frequent (30-79%)
HP:0008264	Neutrophil inclusion bodies	Frequent (30-79%)
HP:0011877	Increased mean platelet volume	Frequent (30-79%)
HP:0001658	Myocardial infarction	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Mondo ID	MONDO:0015912
EFO	EFO:0009646
MeSH	C537831
OMIM	153640, 155100, 600208, 605249
Orphanet	182050, 1019, 1984, 807, 850
DOID	DOID:0060651
NCIT	C131646, C158788
SNOMED CT	234484005, 234485006, 236422008, 712922002
UMLS	C5200934
MedGen	1704278
GARD	0000180
Is cancer (heuristic)	no

Also known as: Alport syndrome with macrothrombocytopenia · Brodie Chole griffin syndrome · Brodie Chole gryphon syndrome · Epstein syndrome · Fechtner syndrome · FTNS · giant platelet syndrome with thrombocytopenia · macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss · macrothrombocytopenia and progressive sensorineural deafness · macrothrombocytopenia progressive deafness · MATINS · May-Hegglin anomaly · MHA · MYH9 related disorders · MYH9 related thrombocytopenia · MYH9-RD · MYH9-related disease · MYH9-related disorder · MYH9-related syndrome · MYH9-related syndromic thrombocytopenia (+3 more)

Data availability: 416 ClinVar variants · 5 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › hemorrhagic disease › inherited bleeding disorder, platelet-type › macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Related subtypes (27): gray platelet syndrome, primary release disorder of platelets, platelet-type von Willebrand disease, platelet-type bleeding disorder 16, platelet-type bleeding disorder 17, Ehlers-Danlos syndrome, fibronectinemic type, Bernard-Soulier syndrome, Scott syndrome, congenital thrombotic thrombocytopenic purpura, Quebec platelet disorder, platelet-type bleeding disorder 12, platelet-type bleeding disorder 10, platelet-type bleeding disorder 8, platelet-type bleeding disorder 14, platelet-type bleeding disorder 9, platelet-type bleeding disorder 11, platelet-type bleeding disorder 15, platelet-type bleeding disorder 18, platelet-type bleeding disorder 19, platelet-type bleeding disorder 20, cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, bleeding disorder, platelet-type, 24, bleeding disorder, platelet-type, 22, bleeding disorder, platelet-type, 21, Glanzmann thrombasthenia, bleeding diathesis due to thromboxane synthesis deficiency, bleeding disorder, platelet-type, 25

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

416 retrieved; paginated sample, class counts are floors:

197 uncertain significance, 108 conflicting classifications of pathogenicity, 36 benign/likely benign, 26 likely benign, 16 pathogenic, 16 likely pathogenic, 10 pathogenic/likely pathogenic, 7 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1028020	NM_002473.6(MYH9):c.97T>C (p.Trp33Arg)	MYH9	Pathogenic	criteria provided, multiple submitters, no conflicts
14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9	Pathogenic	criteria provided, multiple submitters, no conflicts
14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9	Pathogenic	criteria provided, multiple submitters, no conflicts
14075	NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14076	NM_002473.6(MYH9):c.4270G>C (p.Asp1424His)	MYH9	Pathogenic	no assertion criteria provided
14077	NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile)	MYH9	Pathogenic	criteria provided, single submitter
14078	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9	Pathogenic	criteria provided, multiple submitters, no conflicts
14079	NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14080	NM_002473.6(MYH9):c.5821del (p.Asp1941fs)	MYH9	Pathogenic	no assertion criteria provided
14081	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14082	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14083	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14085	NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup)	MYH9	Pathogenic	criteria provided, single submitter
14086	NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del)	MYH9	Pathogenic	no assertion criteria provided
164432	NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)	MYH9	Pathogenic	criteria provided, multiple submitters, no conflicts
1684410	NM_002473.6(MYH9):c.5773del (p.Asp1925fs)	MYH9	Pathogenic	criteria provided, single submitter
1703779	NM_002473.6(MYH9):c.5765+2T>C	MYH9	Pathogenic	criteria provided, single submitter
3068367	NM_002473.6(MYH9):c.4271A>C (p.Asp1424Ala)	MYH9	Pathogenic	criteria provided, single submitter
38965	NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu)	MYH9	Pathogenic	criteria provided, single submitter
38966	NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4537177	NM_002473.6(MYH9):c.250del (p.Glu84fs)	MYH9	Pathogenic	criteria provided, single submitter
623106	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
623108	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
404539	NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)	NF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1698773	NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)	TUBB1	Pathogenic	criteria provided, single submitter
14084	NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del)	MYH9	Likely pathogenic	criteria provided, single submitter
1679093	NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)	MYH9	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1684327	NM_002473.6(MYH9):c.284C>T (p.Ala95Val)	MYH9	Likely pathogenic	no assertion criteria provided
1684413	NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu)	MYH9	Likely pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · Orphanet: 13 · 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
MYH9	Definitive	Autosomal dominant	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYH9	Orphanet:182050	MYH9-related syndromic thrombocytopenia
MYH9	Orphanet:477742	Nodular fasciitis
MYH9	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
TUBB1	Orphanet:140957	Autosomal dominant macrothrombocytopenia
NF1	Orphanet:139474	17q11.2 microduplication syndrome
NF1	Orphanet:29072	Hereditary pheochromocytoma-paraganglioma
NF1	Orphanet:293199	Pleomorphic rhabdomyosarcoma
NF1	Orphanet:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
NF1	Orphanet:638	Neurofibromatosis-Noonan syndrome
NF1	Orphanet:86834	Juvenile myelomonocytic leukemia
NF1	Orphanet:97685	17q11 microdeletion syndrome
NF1	Orphanet:99756	Alveolar rhabdomyosarcoma
NF1	Orphanet:99757	Embryonal rhabdomyosarcoma

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MYH9	HGNC:7579	ENSG00000100345	P35579	Myosin-9	gencc,clinvar
TUBB1	HGNC:16257	ENSG00000101162	Q9H4B7	Tubulin beta-1 chain	clinvar
NF1	HGNC:7765	ENSG00000196712	P21359	Neurofibromin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYH9	Myosin-9	Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
TUBB1	Tubulin beta-1 chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.
NF1	Neurofibromin	Stimulates the GTPase activity of Ras.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 2 · 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
Scaffold/PPI	1	5.8×	0.327
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYH9	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail
TUBB1	Other/Unknown	no		Tubulin, Beta_tubulin, Tubulin_FtsZ_GTPase
NF1	Other/Unknown	no		CRAL-TRIO_dom, RasGAP_dom, Rho_GTPase_activation_prot

Expression context

Cohort genes with no expression data: 0.

3 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ascending aorta	1
stromal cell of endometrium	1
thoracic aorta	1
leukocyte	1
monocyte	1
mononuclear cell	1
adrenal tissue	1
calcaneal tendon	1
colonic epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYH9	279	ubiquitous	marker	stromal cell of endometrium, ascending aorta, thoracic aorta
TUBB1	140	tissue_specific	marker	monocyte, mononuclear cell, leukocyte
NF1	283	ubiquitous	marker	colonic epithelium, calcaneal tendon, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NF1	5,540
MYH9	5,533
TUBB1	4,106

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NF1	P21359	26
MYH9	P35579	8

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TUBB1	Q9H4B7	90.92

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 119. Enrichment computed across 3 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Translocation of SLC2A4 (GLUT4) to the plasma membrane	2	102.9×	0.015	MYH9, TUBB1
RHO GTPase Effectors	2	45.3×	0.023	MYH9, TUBB1
Diseases of signal transduction by growth factor receptors and second messengers	2	37.9×	0.023	MYH9, NF1
Disease	3	13.1×	0.023	MYH9, TUBB1, NF1
Signal Transduction	3	10.2×	0.023	MYH9, TUBB1, NF1
RAS signaling downstream of NF1 loss-of-function variants	1	543.8×	0.024	NF1
CD163 mediating an anti-inflammatory response	1	380.7×	0.024	MYH9
Axon guidance	2	30.1×	0.024	MYH9, TUBB1
Nervous system development	2	28.6×	0.024	MYH9, TUBB1
Membrane Trafficking	2	24.7×	0.024	MYH9, TUBB1
Vesicle-mediated transport	2	23.2×	0.024	MYH9, TUBB1
Signaling by Rho GTPases	2	22.8×	0.024	MYH9, TUBB1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	2	22.3×	0.024	MYH9, TUBB1
Sema4D in semaphorin signaling	1	223.9×	0.029	MYH9
RHO GTPases activate CIT	1	200.3×	0.029	MYH9
RHO GTPases Activate ROCKs	1	200.3×	0.029	MYH9
Sema4D induced cell migration and growth-cone collapse	1	190.3×	0.029	MYH9
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1	181.3×	0.029	TUBB1
Transport of connexons to the plasma membrane	1	181.3×	0.029	TUBB1
RHO GTPases activate PAKs	1	181.3×	0.029	MYH9
Gap junction trafficking and regulation	1	158.6×	0.029	TUBB1
Gap junction trafficking	1	158.6×	0.029	TUBB1
Post-chaperonin tubulin folding pathway	1	158.6×	0.029	TUBB1
Formation of tubulin folding intermediates by CCT/TriC	1	141.0×	0.029	TUBB1
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	1	135.9×	0.029	TUBB1
Semaphorin interactions	1	131.3×	0.029	MYH9
Prefoldin mediated transfer of substrate to CCT/TriC	1	131.3×	0.029	TUBB1
Anti-inflammatory response favouring Leishmania parasite infection	1	131.3×	0.029	MYH9
Leishmania parasite growth and survival	1	131.3×	0.029	MYH9
EPHA-mediated growth cone collapse	1	126.9×	0.029	MYH9

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
platelet formation	2	468.1×	8e-04	MYH9, TUBB1
platelet aggregation	2	224.7×	0.002	MYH9, TUBB1
positive regulation of mast cell apoptotic process	1	5617.3×	0.003	NF1
regulation of glial cell differentiation	1	5617.3×	0.003	NF1
observational learning	1	5617.3×	0.003	NF1
uropod organization	1	2808.7×	0.003	MYH9
cortical granule exocytosis	1	2808.7×	0.003	MYH9
gamma-aminobutyric acid secretion, neurotransmission	1	2808.7×	0.003	NF1
negative regulation of actin filament severing	1	2808.7×	0.003	MYH9
positive regulation of protein processing in phagocytic vesicle	1	2808.7×	0.003	MYH9
Schwann cell proliferation	1	1872.4×	0.003	NF1
forebrain astrocyte development	1	1872.4×	0.003	NF1
cytokinetic process	1	1872.4×	0.003	MYH9
Schwann cell migration	1	1872.4×	0.003	NF1
glutamate secretion, neurotransmission	1	1872.4×	0.003	NF1
negative regulation of mast cell proliferation	1	1872.4×	0.003	NF1
negative regulation of Schwann cell migration	1	1872.4×	0.003	NF1
vascular associated smooth muscle cell migration	1	1872.4×	0.003	NF1
regulation of plasma membrane repair	1	1872.4×	0.003	MYH9
actin cytoskeleton organization	2	52.7×	0.003	MYH9, NF1
mast cell apoptotic process	1	1404.3×	0.004	NF1
negative regulation of Rac protein signal transduction	1	1404.3×	0.004	NF1
establishment of meiotic spindle localization	1	1404.3×	0.004	MYH9
myeloid leukocyte migration	1	1404.3×	0.004	NF1
angiogenesis	2	41.6×	0.004	MYH9, NF1
cytoplasmic actin-based contraction involved in cell motility	1	1123.5×	0.004	MYH9
mast cell proliferation	1	1123.5×	0.004	NF1
amygdala development	1	936.2×	0.005	NF1
regulation of blood vessel endothelial cell migration	1	936.2×	0.005	NF1
vascular associated smooth muscle cell proliferation	1	936.2×	0.005	NF1

Therapeutics

Drug target analysis

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

Druggability breadth: 2 of 3 evidence-associated genes (67%) 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
TUBB1	COLCHICINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TUBB1	22	4
MYH9	1	2
NF1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
COLCHICINE	4	TUBB1
VINBLASTINE	4	TUBB1
LEVOFLOXACIN ANHYDROUS	4	TUBB1
DOCETAXEL	4	TUBB1
NOSCAPINE	4	TUBB1
VINBLASTINE SULFATE	4	TUBB1
PACLITAXEL	4	TUBB1
LEVOFLOXACIN	4	TUBB1
VINORELBINE	4	TUBB1
TIRBANIBULIN	4	TUBB1
PODOFILOX	4	TUBB1
VINCRISTINE	4	TUBB1
DOCETAXEL ANHYDROUS	4	TUBB1
PATUPILONE	3	TUBB1
MOLIBRESIB	2	MYH9
TALTOBULIN	2	TUBB1
ABT-751	2	TUBB1
MAYTANSINE	2	TUBB1
DOLASTATIN-10	2	TUBB1
INDIBULIN	2	TUBB1
PARBENDAZOLE	2	TUBB1
NOCODAZOLE	2	TUBB1
COMBRETASTATIN	1	TUBB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TUBB1	1,765	Binding:1723, Functional:36, ADMET:6
MYH9	10	Binding:10

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
TUBB1	1,765

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

23 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)
COLCHICINE	4	TUBB1
VINBLASTINE	4	TUBB1
LEVOFLOXACIN ANHYDROUS	4	TUBB1
DOCETAXEL	4	TUBB1
NOSCAPINE	4	TUBB1
VINBLASTINE SULFATE	4	TUBB1
PACLITAXEL	4	TUBB1
LEVOFLOXACIN	4	TUBB1
VINORELBINE	4	TUBB1
TIRBANIBULIN	4	TUBB1
PODOFILOX	4	TUBB1
VINCRISTINE	4	TUBB1
DOCETAXEL ANHYDROUS	4	TUBB1
PATUPILONE	3	TUBB1
MOLIBRESIB	2	MYH9
TALTOBULIN	2	TUBB1
ABT-751	2	TUBB1
MAYTANSINE	2	TUBB1
DOLASTATIN-10	2	TUBB1
INDIBULIN	2	TUBB1
PARBENDAZOLE	2	TUBB1
NOCODAZOLE	2	TUBB1
COMBRETASTATIN	1	TUBB1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	TUBB1
B	Phased (≥1) drug, not yet approved	1	MYH9
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	NF1

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)
NF1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	2
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02242656	PHASE3	WITHDRAWN	A Phase III Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Investigational Product MP-101 in Subjects With Short Bowel Syndrome Who Have Had an Inadequate Response to Anti-Diarrheals
NCT02246816	PHASE3	WITHDRAWN	A Open Label Extension Study for Subjects That Complete Study MP-101-CL-001
NCT00925236	Not specified	COMPLETED	Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia