Inflammatory disease

Summary

Inflammatory disease (MONDO:0021166) is a disease (an umbrella term covering 94 Mondo subtypes) with 1 cohort gene and 79 clinical trials. Top therapeutic interventions include cephalexin anhydrous, doxycycline anhydrous, and anakinra.

At a glance

• Umbrella term: 94 Mondo subtypes
• Cohort genes: 1
• Clinical trials: 79

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory disease
Mondo ID	MONDO:0021166
NCIT	C93210
SNOMED CT	128139000
UMLS	C1290884
MedGen	452939
Is cancer (heuristic)	no

Also known as: anatomical structure inflammation · inflammation of anatomical structure · inflammatory disease · inflammatory disorder

Data availability: 1 GenCC gene-disease record.

Disease family

An umbrella term covering 94 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › inflammatory disease

Related subtypes (11): psychiatric disorder, metabolic disease, premature aging syndrome, disorder of development or morphogenesis, disorder of glycosylation, ulcer disease, mitochondrial disease, sleep disorder, perinatal disease, obstetric disorder, disease by molecular mechanism

Subtypes (94): chorioamnionitis, pyometritis, uvulitis, mastoiditis, pelvic inflammatory disease, tonsillitis, nasopharyngitis, petrositis, nephritis, esophagitis, geniculate ganglionitis, epicondylitis, labyrinthitis, lymphadenitis, cheilitis, neuritis, vaginitis, hepatitis, pharyngitis, hidradenitis, gastroenteritis, dermatitis, bursitis, laryngitis, keratitis, endocervicitis, conjunctivitis, spondylitis, thyroiditis, diverticulitis, neuronitis, mediastinitis, epididymitis, blepharitis, cholangitis, dacryoadenitis, fasciitis, chronic inflammation of lacrimal passage, dacryocystitis, periostitis, gastritis, pancreatitis, periodontitis, encephalomyelitis, placental villitis, prostatitis, urethritis, otitis media, perianal Crohn disease, proctitis, arthritic joint disease, oral tuberculosis, parotitis, pericarditis, sinusitis, cystitis, panniculitis, balanitis, chronic inflammatory demyelinating polyradiculoneuropathy, glossitis, mastitis, oophoritis, orchitis, perinephritis, pulpitis, rheumatic heart disease, vulvitis, thromboangiitis obliterans, STING-associated vasculopathy with onset in infancy, endophthalmitis, chronic granulomatous disease, IgG4-related pachymeningitis, vasculitis, chronic pneumonitis of infancy, uveitis, mucositis, amnionitis, diaphragmitis, gonococcal cervicitis, posthitis, myositis disease, omphalitis, ear infection, radiculitis, tracheobronchitis, ureteritis, enthesitis, inflammation of heart layer, serositis, pneumonitis, immune reconstitution inflammatory syndrome, multiple evanescent white dot syndrome, isolated anogenital granulomatosis, myelin oligodendrocyte glycoprotein antibody-associated disease

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
UBA1	No Known Disease Relationship	Unknown	inflammatory disease	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
UBA1	Orphanet:1145	Infantile-onset X-linked spinal muscular atrophy
UBA1	Orphanet:596753	VEXAS syndrome

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
UBA1	HGNC:12469	ENSG00000130985	P22314	Ubiquitin-like modifier-activating enzyme 1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
UBA1	Ubiquitin-like modifier-activating enzyme 1	Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system.

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
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
UBA1	Enzyme (other)	yes	2.3.2.23	UBQ/SUMO-activ_enz_E1-like, ThiF_NAD_FAD-bd, UBQ-activ_enz_E1_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
endometrium epithelium	1
pharyngeal mucosa	1
renal medulla	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
UBA1	292	ubiquitous	marker	endometrium epithelium, renal medulla, pharyngeal mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
UBA1	4,870

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
UBA1	P22314	9

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	1	368.4×	0.006	UBA1
Dengue Virus Attachment and Entry	1	259.6×	0.006	UBA1
Antigen processing: Ubiquitination & Proteasome degradation	1	37.2×	0.027	UBA1

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
ubiquitin-dependent protein catabolic process	1	74.2×	0.024	UBA1
DNA damage response	1	53.5×	0.024	UBA1
protein ubiquitination	1	41.4×	0.024	UBA1

Therapeutics

Drug target analysis

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

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

Top cohort targets by molecule count

Symbol	Molecules	Max phase
UBA1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
UBA1	38	Binding:38

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
UBA1	2.3.2.23, 6.2.1.45, 6.2.1.64	E2 ubiquitin-conjugating enzyme, E1 ubiquitin-activating enzyme, E1 NEDD8-activating enzyme

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	1	UBA1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
UBA1	38	—

Clinical trials & evidence

Clinical trials

Clinical trials: 79.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	57
PHASE1	12
PHASE4	3
PHASE2	3
PHASE3	2
PHASE1/PHASE2	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03153527	PHASE4	RECRUITING	Taper Or Abrupt Steroid Stop: TOASSTtrial
NCT04297592	PHASE4	ENROLLING_BY_INVITATION	Antibiotic Prophylaxis in High-Risk Arthroplasty Patients
NCT00958620	PHASE4	COMPLETED	Shockwave Therapy of Chronic Achilles Tendinopathy
NCT06059989	PHASE3	RECRUITING	InDuctIon TREatment with SubCuTaneous Infliximab for Crohn’s Disease
NCT02266433	PHASE3	TERMINATED	Dexamethasone Versus Ketorolac Injection for the Treatment of Local Inflammatory Hand and Upper Extremity Disorders
NCT06448052	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Umbilical Cord Mesenchymal Stem Cell for Aging-related Low-grade Inflammation
NCT01364389	PHASE2	TERMINATED	A 3-arm Proof of Concept Study of AIN457, ACZ885 or Corticosteroids in Patients With Polymyalgia Rheumatica
NCT03604406	PHASE2	COMPLETED	The Immunogenicity and Safety of Zostavax® and Shingrix® in Rheumatoid Arthritis Patients Using Abatacept
NCT03651518	PHASE2	COMPLETED	Personalized Therapies in Inflammatory Complex Disease
NCT00734240	PHASE1	COMPLETED	Safety and Tolerability of Single and Multiple Doses of ISIS 353512 in Healthy Volunteers
NCT01398475	PHASE1	COMPLETED	A Relative Bioavailability and Food Effect Study of New Formulations
NCT01695876	PHASE1	COMPLETED	A Phase I Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), Pharmacodynamics (PD), Food Effect of AMG 357 in Healthy Subjects
NCT02959138	PHASE1	COMPLETED	Pharmacokinetics of Lanraplenib in Adults With Impaired Renal Function
NCT03044873	PHASE1	COMPLETED	Effect of BMS-986165 on the Pharmacokinetics of Rosuvastatin
NCT04987333	PHASE1	COMPLETED	Study of Efavaleukin Alfa in Healthy Chinese, Japanese, and Caucasian Participants
NCT05323110	PHASE1	TERMINATED	Study of Intravenously Administered Anti-LIGHT Monoclonal Antibody CBS001 in Healthy Volunteers
NCT05546788	PHASE1	UNKNOWN	Hydroxylated Polymethoxy Flavones Solid Dispersion in Treatment of Periodontitis
NCT05662033	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, and Pharmacokinetics (PK) of Oral AZD6793 in Healthy and Chronic Obstructive Pulmonary Disease Participants, to Assess the Relative Oral Bioavailability Between Two Formulations, and the Food Effect on the PK of AZD6793 Compared to Fasting State.
NCT05857215	PHASE1	COMPLETED	A First-in-Human Study of Single and Multiple Doses of Amilo-5MER in Healthy Subjects
NCT06065592	PHASE1	UNKNOWN	Exploring Cancer-Associated Thromboembolism Prognosis Biomarkers and Polymorphisms
NCT06670274	PHASE1	COMPLETED	A Dose Escalating Study of HC002 in Healthy Adult Volunteers
NCT02925351	EARLY_PHASE1	COMPLETED	Fluorine F 18 Clofarabine PET/CT in Imaging Patients With Autoimmune or Inflammatory Diseases
NCT01143454	Not specified	RECRUITING	Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
NCT01280825	Not specified	RECRUITING	The 1200 Patients Project: Studying the Implementation of Clinical Pharmacogenomic Testing
NCT02653079	Not specified	RECRUITING	Immunophenotyping From Blood of Patients Suffering From Chronic Degenerating Joint Diseases and Receiving LDRT
NCT03112785	Not specified	ACTIVE_NOT_RECRUITING	Fitmore Versus CLS Stem in Total Hip Arthroplasty. Bilateral One-stage Operations
NCT03221127	Not specified	ACTIVE_NOT_RECRUITING	Kuopio Ischaemic Heart Disease Risk Factor Study (Nutrition Component)
NCT03749343	Not specified	ACTIVE_NOT_RECRUITING	International T1 Multicenter Outcome Study
NCT04334031	Not specified	RECRUITING	Deployment o the Multidisciplinary Prospective Cohort Imminent
NCT04565821	Not specified	ACTIVE_NOT_RECRUITING	Feasibility Study to Assess a Trans-nasal Intestinal Potential Difference Probe
NCT04698291	Not specified	RECRUITING	Genetic Variants and Regulation of Specialized Pro-resolving Mediator
NCT05012033	Not specified	RECRUITING	Evaluation of High Dose Prednisolone Pharmacokinetics in the Acute and Chronic Setting
NCT05364294	Not specified	RECRUITING	Molecular Diagnosis of Systemic Autoinflammatory Diseases
NCT05656378	Not specified	RECRUITING	A Repository to Study Host-Microbiome Interactions in Health and Disease
NCT05697159	Not specified	RECRUITING	7 Tesla MRI Brain Imaging to Decipher Filgotinib’s Mode of Analgesic Action in Rheumatoid Arthritis
NCT05860400	Not specified	RECRUITING	Efficacy and Safety of Comprehensive Treatment in Patients With IR-CAD: a Self-controlled Cohort Study
NCT06007248	Not specified	RECRUITING	Disease Characteristics of IR-CAD: a Case-control Study
NCT06275477	Not specified	RECRUITING	68Gallium-FAPI46 PET/CT Imaging in Chronic Inflammatory and Fibrotic Diseases
NCT06476535	Not specified	ACTIVE_NOT_RECRUITING	Observatory of Patients With MyeloProliferative Neoplasm Treated With Anti-inflammatory Immunotherapy
NCT06498167	Not specified	RECRUITING	Active Pharmacovigilance Study of the Medicine Rinvoq™ (Upadacitinib)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CEPHALEXIN ANHYDROUS	4	3
DOXYCYCLINE ANHYDROUS	4	3
ANAKINRA	4	1
CANAKINUMAB	4	1
CEFADROXIL	4	1
DEUCRAVACITINIB	4	1
PREDNISONE	4	1
PROBENECID	4	1
UPADACITINIB	4	1
USTEKINUMAB	4	1
CANNABIGEROL	2	1
EFAVALEUKIN ALFA	2	1
CHEMBL15720	0	2
CHEMBL1555813	0	1
CHEMBL4783966	0	1