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Dermatomyositis

disease
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Also known as adult dermatomyositisAmyopathic dermatomyositisdermatopolymyositisDM

Summary

Dermatomyositis (MONDO:0016367) is a disease (an umbrella term covering 11 Mondo subtypes) with 10 cohort genes (12 GWAS associations across 7 studies) and 129 clinical trials. Top therapeutic interventions include tofacitinib, abatacept, and alogliptin.

At a glance

  • Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
  • Umbrella term: 11 Mondo subtypes
  • Cohort genes: 10
  • GWAS associations: 12
  • Phenotypes (HPO): 77
  • Clinical trials: 129

Clinical features

Epidemiology

Prevalence records

14 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Annual incidence1-9 / 100 0000.9704WorldwideValidated
Point prevalence1-9 / 100 0007.5312WorldwideValidated
Annual incidence1-9 / 1 000 0000.1AustraliaValidated
Annual incidence1-9 / 1 000 0000.32ArgentinaValidated
Annual incidence1-9 / 1 000 0000.49SpainValidated
Annual incidence1-9 / 100 0001.1United StatesValidated
Annual incidence1-9 / 1 000 0000.32SwedenValidated
Annual incidence1-9 / 100 0003.5GermanyValidated
Point prevalence1-9 / 100 0001.97AustraliaValidated
Point prevalence1-5 / 10 00010.2ArgentinaValidated
Point prevalence1-5 / 10 00013United StatesValidated
Point prevalence1-9 / 100 0004.9172NorwayValidated
Point prevalence1-9 / 100 0003.8SwedenValidated
Point prevalence1-5 / 10 00011.3GermanyValidated

Signs & symptoms

Clinical features (HPO)

77 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO IDTermFrequency
HP:0000492Abnormal eyelid morphologyVery frequent (80-99%)
HP:0000969EdemaVery frequent (80-99%)
HP:0002960AutoimmunityVery frequent (80-99%)
HP:0003325Limb-girdle muscle weaknessVery frequent (80-99%)
HP:0003326MyalgiaVery frequent (80-99%)
HP:0003457EMG abnormalityVery frequent (80-99%)
HP:0003701Proximal muscle weaknessVery frequent (80-99%)
HP:0009071Inflammatory myopathyVery frequent (80-99%)
HP:0010783ErythemaVery frequent (80-99%)
HP:0100539Periorbital edemaVery frequent (80-99%)
HP:0001824Weight lossFrequent (30-79%)
HP:0002093Respiratory insufficiencyFrequent (30-79%)
HP:0002205Recurrent respiratory infectionsFrequent (30-79%)
HP:0002206Pulmonary fibrosisFrequent (30-79%)
HP:0002207Diffuse reticular or finely nodular infiltrationsFrequent (30-79%)
HP:0002747Respiratory insufficiency due to muscle weaknessFrequent (30-79%)
HP:0002829ArthralgiaFrequent (30-79%)
HP:0002910Elevated circulating hepatic transaminase concentrationFrequent (30-79%)
HP:0003236Elevated circulating creatine kinase concentrationFrequent (30-79%)
HP:0003458EMG: myopathic abnormalitiesFrequent (30-79%)
HP:0006530Abnormal pulmonary interstitial morphologyFrequent (30-79%)
HP:0011362Abnormal hair quantityFrequent (30-79%)
HP:0012378FatigueFrequent (30-79%)
HP:0012544Elevated circulating aldolase concentrationFrequent (30-79%)
HP:0025435Increased circulating lactate dehydrogenase concentrationFrequent (30-79%)
HP:0025508Gottron’s papulesFrequent (30-79%)
HP:0025535Shawl signFrequent (30-79%)
HP:0034140Anti-SUMO-activating enzyme subunit 1 antibody positivityFrequent (30-79%)
HP:0034141Anti-SUMO-activating enzyme subunit 2 antibody positivityFrequent (30-79%)
HP:0040324Heliotrope rashFrequent (30-79%)
HP:0100614MyositisFrequent (30-79%)
HP:0200034PapuleFrequent (30-79%)
HP:0200042Skin ulcerFrequent (30-79%)
HP:0000934ChondrocalcinosisFrequent (30-79%)
HP:0000958Dry skinFrequent (30-79%)
HP:0000988Skin rashFrequent (30-79%)
HP:0000989PruritusFrequent (30-79%)
HP:0001041Facial erythemaFrequent (30-79%)
HP:0001063AcrocyanosisFrequent (30-79%)
HP:0001252HypotoniaFrequent (30-79%)
HP:0001369ArthritisFrequent (30-79%)
HP:0001597Abnormality of the nailFrequent (30-79%)
HP:0000992Cutaneous photosensitivityOccasional (5-29%)
HP:0001029PoikilodermaOccasional (5-29%)
HP:0001596AlopeciaOccasional (5-29%)
HP:0001618DysphoniaOccasional (5-29%)
HP:0001658Myocardial infarctionOccasional (5-29%)
HP:0001701PericarditisOccasional (5-29%)
HP:0001879Abnormality of eosinophilsOccasional (5-29%)
HP:0001945FeverOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namedermatomyositis
Mondo IDMONDO:0016367
EFOEFO:0000398
MeSHD003882
Orphanet221
DOIDDOID:10223
ICD-10-CMM33
ICD-11739030149
NCITC26744
SNOMED CT396230008
UMLSC0011633
MedGen8331
GARD0006263
MedDRA10012503
NORD1048
Anatomy (UBERON)UBERON:0001015
Is cancer (heuristic)no

Also known as: adult dermatomyositis · Amyopathic dermatomyositis · dermatomyositis · dermatopolymyositis · DM

Data availability: 12 GWAS associations (7 studies) · 10 cell lines.

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › dermatomyositis

Related subtypes (32): spongiotic dermatitis, atopic eczema, psoriasis, contact dermatitis, urticaria, acneiform dermatitis, acrodermatitis, folliculitis, granuloma annulare, granulomatous dermatitis, lichen planus, neurodermatitis, neurotic excoriation, parapsoriasis, pityriasis rosea, seborrheic dermatitis, acanthosis nigricans, dermatosis papulosa nigra, lichen sclerosus et atrophicus, vitiligo, acne, porphyria cutanea tarda, acute generalized exanthematous pustulosis, hydroa vacciniforme, autoimmune bullous skin disease, cutaneous vasculitis, skin infection, intertrigo, lipodermatosclerosis, exfoliative dermatitis, radiodermatitis, food dermatitis

Subtypes (11): adult dermatomyositis, juvenile dermatomyositis, neonatal dermatomyositis, classical dermatomyositis, adermatopathic dermatomyositis, anti-MDA5 dermatomyositis, anti-Mi2 dermatomyositis, anti-NXP2 dermatomyositis, anti-TIF1 dermatomyositis, anti-SAE dermatomyositis, clinically amyopathic dermatomyositis

Genetics & variants

GWAS landscape

12 GWAS associations across 7 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs31298432e-48TSBP1-AS1 - HLA-DRAG2.18
rs77481413e-28LINC02571 - HLA-B?2.17
HLA_DPB1*173e-10?3.84
rs77504581e-09HLA-DPA1, HLA-DPB1A2.5
rs19455152e-07PLA2G12AP2 - ANKRD26P2?
rs99867657e-07PIPG2.71
rs37507169e-07CPN1A4.39
rs620425941e-06GINS3?0.77
rs47026985e-06LINC02213, ROPN1LG1.22
rs75727336e-06PLCL1?1.25
rs49212938e-06MIR3142HGG1.21
rs10087239e-06GSDMBT1.2

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST002151Miller FW20131,1784,724Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
GCST006053Rothwell S201587915,651Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
GCST90270218Rothwell S202281710,260Genome-wide imputation identifies novel associations and localises signals in idiopathic inflammatory myopathies.
GCST005339Kochi Y20183406,270Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis.
GCST90474053UK Biobank Whole-Genome Sequencing Consortium2025253458,187Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90652005Liu TY2025232210,768Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST003522Zhang CE201601,566Variation at HLA-DPB1 is associated with dermatomyositis in Chinese population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic12

MAF distribution

BucketVariants
common (>=0.05)10
low_freq (0.01-0.05)1
rare (<0.01)0
unknown1

Functional consequences

ConsequenceCount
intron_variant9
unknown1
intergenic_variant1
synonymous_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs3129843632427949A>G0.05intron_variantTSBP1-AS1 - HLA-DRA2e-48Tier 4: intronic/intergenic
rs7748141631321100T>A,C0.05intron_variantLINC02571 - HLA-B3e-28Tier 4: intronic/intergenic
HLA_DPB1*173e-10Tier 4: intronic/intergenic
rs7750458633077921G>A0.09intron_variantHLA-DPA1, HLA-DPB11e-09Tier 4: intronic/intergenic
rs19455151338912514C>G,T0.05intergenic_variantPLA2G12AP2 - ANKRD26P22e-07Tier 4: intronic/intergenic
rs99867657143138146A>G0.05intron_variantPIP7e-07Tier 4: intronic/intergenic
rs375071610100057106C>G,T0.01synonymous_variantCPN19e-07Tier 4: intronic/intergenic
rs620425941658385760G>T0.05intron_variantGINS31e-06Tier 4: intronic/intergenic
rs4702698510517796A>G0.05intron_variantLINC02213, ROPN1L5e-06Tier 4: intronic/intergenic
rs75727332198065082C>T0.05intron_variantPLCL16e-06Tier 4: intronic/intergenic
rs49212935160501869A>G,T0.05intron_variantMIR3142HG8e-06Tier 4: intronic/intergenic
rs10087231739910014G>C,T0.05intron_variantGSDMB9e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
HLA-DPB1Orphanet:133Chronic beryllium disease
HLA-DPB1Orphanet:900Granulomatosis with polyangiitis

Cohort genes → proteins

10 cohort genes, 10 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only10

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ATP10BHGNC:13543ENSG00000118322O94823Phospholipid-transporting ATPase VBgwas
CPN1HGNC:2312ENSG00000120054P15169Carboxypeptidase N catalytic chaingwas
GSDMBHGNC:23690ENSG00000073605Q8TAX9Gasdermin-Bgwas
ROPN1LHGNC:24060ENSG00000145491Q96C74Ropporin-1-like proteingwas
ANKRD33BHGNC:35240ENSG00000164236A6NCL7Ankyrin repeat domain-containing protein 33Bgwas
HLA-DMBHGNC:4935ENSG00000242574P28068HLA class II histocompatibility antigen, DM beta chaingwas
HLA-DPB1HGNC:4940ENSG00000223865P04440HLA class II histocompatibility antigen, DP beta 1 chaingwas
PIPHGNC:8993ENSG00000159763P12273Prolactin-inducible proteingwas
PLCL1HGNC:9063ENSG00000115896Q15111Inactive phospholipase C-like protein 1gwas
PTTG1HGNC:9690ENSG00000164611O95997Securingwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ATP10BPhospholipid-transporting ATPase VBCatalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of lysosome membranes.
CPN1Carboxypeptidase N catalytic chainProtects the body from potent vasoactive and inflammatory peptides containing C-terminal Arg or Lys (such as kinins or anaphylatoxins) which are released into the circulation.
GSDMBGasdermin-BPrecursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death.
ROPN1LRopporin-1-like proteinFunctions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
HLA-DMBHLA class II histocompatibility antigen, DM beta chainPlays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides.
HLA-DPB1HLA class II histocompatibility antigen, DP beta 1 chainBinds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.
PLCL1Inactive phospholipase C-like protein 1Involved in an inositol phospholipid-based intracellular signaling cascade.
PTTG1SecurinRegulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair.

Protein-family classification

Druggable: 4 · Difficult: 3 · Unknown: 3 · Druggable fraction: 0.4

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.

FamilyGenesFoldFDR
Antibody/Immunoglobulin38.8×0.020
Scaffold/PPI23.5×0.276
Protease13.7×0.403
Transcription factor10.8×0.906
Other/Unknown30.5×0.976

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ATP10BTranscription factorno7.6.2.1P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf
CPN1Proteaseyes3.4.17.3Peptidase_M14, CarboxyPept-like_regulatory, M14_CPN
GSDMBOther/UnknownnoGasdermin, Gasdermin_pore, Gasdermin_PUB
ROPN1LOther/UnknownnoROP_DD
ANKRD33BScaffold/PPInoAnkyrin_rpt, Ankyrin_rpt-contain_sf
HLA-DMBAntibody/ImmunoglobulinyesMHC_II_b_N, Ig/MHC_CS, Ig_C1-set
HLA-DPB1Antibody/ImmunoglobulinyesMHC_II_b_N, Ig/MHC_CS, Ig_C1-set
PIPAntibody/ImmunoglobulinyesPIP, Ig-like_fold, Ig_E-set
PLCL1Scaffold/PPIno2.7.11.10C2_dom, PLipase_C_PInositol-sp_X_dom, PI-PLC_fam
PTTG1Other/UnknownnoSecurin_separation_inhibitor

Expression context

Cohort genes with no expression data: 0.

10 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)10
unknown0

Top tissues across cohort

TissueCohort genes
right lobe of liver2
granulocyte2
colonic mucosa1
mucosa of sigmoid colon1
palpebral conjunctiva1
liver1
primordial germ cell in gonad1
mucosa of transverse colon1
rectum1
bronchial epithelial cell1
left testis1
right testis1
Brodmann (1909) area 231
sural nerve1
tibialis anterior1
leukocyte1
monocyte1
lymph node1
vermiform appendix1
olfactory segment of nasal mucosa1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ATP10B220tissue_specificmarkermucosa of sigmoid colon, colonic mucosa, palpebral conjunctiva
CPN135tissue_specificmarkerright lobe of liver, liver, primordial germ cell in gonad
GSDMB206tissue_specificmarkerrectum, right lobe of liver, mucosa of transverse colon
ROPN1L167broadmarkerleft testis, right testis, bronchial epithelial cell
ANKRD33B178ubiquitousmarkertibialis anterior, Brodmann (1909) area 23, sural nerve
HLA-DMB134broadmarkermonocyte, leukocyte, granulocyte
HLA-DPB1135ubiquitousmarkergranulocyte, lymph node, vermiform appendix
PIP179tissue_specificmarkerseminal vesicle, parotid gland, olfactory segment of nasal mucosa
PLCL1255ubiquitousmarkerheart right ventricle, corpus callosum, medial globus pallidus
PTTG1246ubiquitousmarkeroocyte, secondary oocyte, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PTTG12,225
HLA-DMB1,822
ANKRD33B1,486
PIP1,012
PLCL1994
ATP10B970
ROPN1L945
CPN1707
GSDMB703
HLA-DPB1160

Intra-cohort edges

ABSources
PLCL1ROPN1Lstring_interaction

Structural data

PDB: 7 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
GSDMBQ8TAX911
HLA-DPB1P0444010
HLA-DMBP280685
PTTG1O959972
CPN1P151691
ROPN1LQ96C741
PIPP122731

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
PLCL1Q1511182.49
ATP10BO9482371.60
ANKRD33BA6NCL767.74

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. Enrichment computed across 10 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
MHC class II antigen presentation229.7×0.033HLA-DMB, HLA-DPB1
Complement cascade1105.7×0.041CPN1
Translocation of ZAP-70 to Immunological synapse1105.7×0.041HLA-DPB1
Phosphorylation of CD3 and TCR zeta chains190.6×0.041HLA-DPB1
Co-inhibition by PD-1186.5×0.041HLA-DPB1
Miscellaneous transport and binding events173.2×0.041PIP
Generation of second messenger molecules157.7×0.044HLA-DPB1
Regulation of Complement cascade138.8×0.056CPN1
Ion transport by P-type ATPases134.6×0.056ATP10B
APC/C:Cdc20 mediated degradation of Securin131.7×0.056PTTG1
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1128.4×0.057PTTG1
Downstream TCR signaling121.4×0.065HLA-DPB1
Interferon gamma signaling120.9×0.065HLA-DPB1
Ion channel transport116.0×0.078ATP10B
Separation of Sister Chromatids110.1×0.114PTTG1
Innate Immune System14.2×0.229CPN1
Transport of small molecules14.2×0.229ATP10B
Immune System12.2×0.382CPN1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
peptide antigen assembly with MHC class II protein complex2234.1×0.001HLA-DMB, HLA-DPB1
antigen processing and presentation of exogenous peptide antigen via MHC class II2120.8×0.002HLA-DMB, HLA-DPB1
positive regulation of immune response2107.0×0.002HLA-DMB, HLA-DPB1
positive regulation of T cell activation298.5×0.002HLA-DMB, HLA-DPB1
MHC class II protein complex assembly11872.4×0.003HLA-DMB
lysosomal membrane organization11872.4×0.003ATP10B
positive regulation of T cell proliferation257.6×0.003HLA-DMB, HLA-DPB1
cytotoxic T cell pyroptotic cell death1936.2×0.006GSDMB
positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell1624.1×0.008HLA-DMB
homologous chromosome segregation1374.5×0.012PTTG1
bradykinin catabolic process1267.5×0.015CPN1
adaptive immune response218.7×0.018HLA-DMB, HLA-DPB1
negative regulation of T cell apoptotic process1187.2×0.018PIP
obsolete killing by host of symbiont cells1156.0×0.020GSDMB
programmed cell death1144.0×0.020GSDMB
peptide metabolic process1133.8×0.020CPN1
regulation of synaptic transmission, GABAergic1117.0×0.022PLCL1
phosphatidylinositol metabolic process198.5×0.025PLCL1
epithelial cilium movement involved in extracellular fluid movement185.1×0.027ROPN1L
phosphatidylinositol-mediated signaling178.0×0.028PLCL1
sperm capacitation174.9×0.028ROPN1L
phospholipid translocation169.3×0.029ATP10B
chromosome organization164.6×0.029PTTG1
gamma-aminobutyric acid signaling pathway160.4×0.030PLCL1
pyroptotic inflammatory response156.7×0.031GSDMB
detection of chemical stimulus involved in sensory perception of bitter taste153.5×0.031PIP
regulation of immune system process152.0×0.031PIP
release of sequestered calcium ion into cytosol138.2×0.039PLCL1
negative regulation of cold-induced thermogenesis138.2×0.039PLCL1
response to glucocorticoid136.0×0.040CPN1

Therapeutics

Drugs indicated for this disease

3 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
Cortisone AcetateApproved (phase 4)
PrednisoloneApproved (phase 4)
PrednisoneApproved (phase 4)
AbataceptPhase 3 (in late-stage trials)
AldesleukinPhase 3 (in late-stage trials)
BaricitinibPhase 3 (in late-stage trials)
BrepocitinibPhase 3 (in late-stage trials)
Human Immunoglobulin GPhase 3 (in late-stage trials)
LenabasumPhase 3 (in late-stage trials)
MethotrexatePhase 3 (in late-stage trials)
UstekinumabPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Anakinra, Apremilast, Corticotropin, Dazukibart, Eculizumab, Etanercept, Infliximab, Methimazole, Ravulizumab, Siponimod, Tocilizumab.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 10

Druggability breadth: 1 of 10 evidence-associated genes (10%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
ATP10B00
CPN100
GSDMB00
ROPN1L00
ANKRD33B00
HLA-DMB00
HLA-DPB100
PIP00
PLCL100
PTTG100

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

SymbolAssaysType breakdown
CPN18Binding:6, ADMET:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
ATP10B7.6.2.1P-type phospholipid transporter
CPN13.4.17.3lysine carboxypeptidase
PLCL12.7.11.10IkappaB kinase

Pharmacogenomics

Cohort genes with a PharmGKB record: 10; 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):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug4CPN1, HLA-DMB, HLA-DPB1, PIP
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug6ATP10B, GSDMB, ROPN1L, ANKRD33B, PLCL1, PTTG1

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
ATP10B0—
CPN18—
GSDMB0—
ROPN1L0—
ANKRD33B0—
HLA-DMB0—
HLA-DPB10—
PIP0—
PLCL10—
PTTG10—

Clinical trials & evidence

Clinical trials

Clinical trials: 129.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified48
PHASE233
PHASE316
PHASE110
PHASE2/PHASE38
PHASE45
EARLY_PHASE15
PHASE1/PHASE24

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06438679PHASE4ENROLLING_BY_INVITATION3T Therapy in the Treatment of MDA5-positive Dermatomyositis
NCT01151644PHASE4UNKNOWNSafety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases
NCT02245841PHASE4COMPLETEDEfficacy and Safety of H.P. Acthar Gel for the Treatment of Refractory Cutaneous Manifestations of Dermatomyositis
NCT02594735PHASE4COMPLETEDAbatacept in Juvenile Dermatomyositis
NCT02821689PHASE4UNKNOWNPirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis
NCT03925701PHASE3RECRUITINGClinical Study Evaluating Vildagliptin Versus Vildagliptin/Metformin on NAFLD With DM
NCT03925714PHASE3RECRUITINGImpact of P53 and SIRT1 in Type 2 Diabetes
NCT04972760PHASE3RECRUITINGBaricitinib in Patients With Relapsing or naïve Dermatomyositis
NCT05437263PHASE3ACTIVE_NOT_RECRUITINGA Study to Investigate the Efficacy and Safety of Brepocitinib in Adults With Dermatomyositis
NCT05495321PHASE3ENROLLING_BY_INVITATIONInterleukin-2 on Active Dermatomyositis
NCT05523167PHASE2/PHASE3ACTIVE_NOT_RECRUITINGA Study to Investigate the Efficacy and Safety of Efgartigimod PH20 SC in Adult Participants With Active Idiopathic Inflammatory Myopathy.
NCT05832034PHASE2/PHASE3ACTIVE_NOT_RECRUITINGAdd-on Intravenous Immunoglobulins in Early Myositis
NCT05979441PHASE3ENROLLING_BY_INVITATIONA Study to Assess the Long-term Safety and Efficacy of a Subcutaneous Formulation of Efgartigimod in Adults With Active Idiopathic Inflammatory Myopathy
NCT06154252PHASE2/PHASE3RECRUITINGRESET-Myositis: An Open-Label Study to Evaluate the Safety and Efficacy of CABA-201 in Subjects With Active Idiopathic Inflammatory Myopathy or Juvenile Idiopathic Inflammatory Myopathy
NCT06698796PHASE3RECRUITINGA Study to Understand How the Study Medicine Dazukibart Works in People With Idiopathic Inflammatory Myopathies
NCT07093476PHASE3RECRUITINGEfficacy and Safety of Add-On Therapy With Empagliflozin in Patients With Type 2 Diabetes on a Background of Alogliptin and Metformin
NCT00035958PHASE2/PHASE3TERMINATEDUnderstanding the Pathogenesis and Treatment of Childhood Onset Dermatomyositis
NCT00335985PHASE3COMPLETEDEfficacy and Safety Study of GB-0998 for Treatment of Steroid-resistant Polymyositis and Dermatomyositis (PM/DM)
NCT00504348PHASE2/PHASE3COMPLETEDInvestigation in Myositis-associated Pneumonitis of Prednisolone And Concomitant Tacrolimus
NCT00651040PHASE3COMPLETEDCombined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With PM and DM
NCT01165008PHASE2/PHASE3COMPLETEDAnakinra in Myositis
NCT02728752PHASE3COMPLETEDStudy Evaluating Efficacy and Safety of Octagam 10% in Patients With Dermatomyositis (Idiopathic Inflammatory Myopathy)
NCT02971683PHASE3COMPLETEDTrial to Evaluate the Efficacy and Safety of Abatacept in Combination With Standard Therapy Compared to Standard Therapy Alone in Improving Disease Activity in Adults With Active Idiopathic Inflammatory Myopathy
NCT03267277PHASE2/PHASE3COMPLETEDSodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis
NCT03686969PHASE3TERMINATEDStudy Evaluating Efficacy and Safety of Octanorm in Patients With Dermatomyositis
NCT03813160PHASE3COMPLETEDTrial to Evaluate Efficacy and Safety of Lenabasum in Dermatomyositis
NCT03981744PHASE3TERMINATEDA Study of Ustekinumab in Participants With Active Polymyositis and Dermatomyositis Who Have Not Adequately Responded to One or More Standard-of-care Treatments
NCT04044690PHASE3TERMINATEDA Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of IgPro20 in Adults With Dermatomyositis (DM)
NCT04999020PHASE2/PHASE3TERMINATEDRavulizumab Versus Placebo in Adult Participants With Dermatomyositis
NCT03582800PHASE2RECRUITINGSubcutaneous Injection of Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study
NCT06284954PHASE2ACTIVE_NOT_RECRUITINGA Study to Evaluate Safety and Efficacy of Empasiprubart in Adults With Dermatomyositis
NCT06347718PHASE1/PHASE2RECRUITINGCAR-T Cells in Systemic B Cell Mediated Autoimmune Disease
NCT06672822PHASE2RECRUITINGIntralesional Injection of STS in Treatment of Calcinosis
NCT06685042PHASE1/PHASE2RECRUITINGAnti-CD19 CAR T-Cell Therapy in Refractory Systemic Autoimmune Diseases
NCT06857240PHASE2RECRUITINGTopical Ruxolitinib Cream for Refractory Cutaneous Dermatomyositis
NCT06887738PHASE2NOT_YET_RECRUITINGStudy of NM8074 in Patients with Dermatomyositis (DM)
NCT07111065PHASE2RECRUITINGFAST for DM - Fatty Acid Supplementation Trial (FAST) for Dermatomyositis (DM)
NCT07122648PHASE2NOT_YET_RECRUITINGPhase 2 Trial to Evaluate the Efficacy, Safety of Allogeneic Mitochondria (PN-101) in Patients With Refractory Polymyositis or Dermatomyositis
NCT07486869PHASE2NOT_YET_RECRUITINGEmapalumab MDA5 Rapidly Progressive Interstitial Lung Disease (RP-ILD) Study
NCT00001261PHASE2COMPLETEDIntravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
TOFACITINIB44
ABATACEPT43
ALOGLIPTIN43
HUMAN IMMUNOGLOBULIN G43
BARICITINIB42
CORTICOTROPIN42
ALDESLEUKIN41
ANAKINRA41
BASILIXIMAB41
EFGARTIGIMOD ALFA41
EMAPALUMAB41
ETANERCEPT41
IPILIMUMAB41
METHIMAZOLE41
PIRFENIDONE41
RAVULIZUMAB41
SIPONIMOD41
SODIUM THIOSULFATE41
USTEKINUMAB41
BREPOCITINIB32
DAZUKIBART32
LENABASUM32
PLATINUM31
ZETOMIPZOMIB22
DAXDILIMAB21
FRONIGLUTIDE21
RUXOPRUBART21
CHEMBL542785402
CHEMBL474759102
CHEMBL522061801

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmicd11intactinterpromeddramedgenmeshmimmondomondochildmondoparentncitnordorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot