Hepatitis

Summary

Hepatitis (MONDO:0002251) is a disease (an umbrella term covering 9 Mondo subtypes) with 1 cohort gene and 129 clinical trials. Top therapeutic interventions include entecavir anhydrous, hepatitis b virus hbsag surface protein antigen, and peginterferon alfa-2b.

At a glance

• Umbrella term: 9 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 129

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hepatitis
Mondo ID	MONDO:0002251
MeSH	D006505
DOID	DOID:2237
NCIT	C3095
SNOMED CT	197268000
UMLS	C0019158
MedGen	5515
Is cancer (heuristic)	no

Also known as: acute and subacute liver necrosis · acute hepatitis · acute/subac. necrosis of liver · animal hepatitis · chronic hepatitis · chronic persistent hepatitis · Hepatitides · Hepatitis · hepatitis · inflammation of liver · liver inflammation

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 9 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › hepatitis

Related subtypes (31): polycystic echinococcosis, autosomal dominant polycystic liver disease, hepatorenal syndrome, hepatic vascular disorder, hepatic porphyria, hepatopulmonary syndrome, fatty liver disease, cirrhosis of liver, drug-induced liver injury, perinatal jaundice due to hepatocellular damage, Aagenaes syndrome, transient familial neonatal hyperbilirubinemia, hyperbiliverdinemia, transient infantile hypertriglyceridemia and hepatosteatosis, idiopathic copper-associated cirrhosis, familial intrahepatic cholestasis, bile duct cyst, nodular regenerative hyperplasia of the liver, hepatoportal sclerosis, primitive portal vein thrombosis, glycogen storage disease due to liver phosphorylase kinase deficiency, liver and intrahepatic bile duct neoplasm, alcoholic liver disease, early-onset familial noncirrhotic portal hypertension, liver failure, fibrotic liver disease, intestinal failure–associated liver disease, liver abscess (disease), membranous obstruction of inferior vena cava, liver disease, severe congenital, cystic fibrosis-related liver disease

Subtypes (9): alcoholic hepatitis, drug-induced hepatitis, granulomatous hepatitis, hepatic tuberculosis, viral hepatitis, metabolic dysfunction-associated steatohepatitis, autoimmune hepatitis, fulminant viral hepatitis, idiopathic peliosis hepatis

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

1 retrieved; paginated sample, class counts are floors:

1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
370045	NC_012920.1(MT-TL1):m.3275C>T	MT-TL1	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MT-TL1	Orphanet:255210	Mitochondrial DNA-associated Leigh syndrome
MT-TL1	Orphanet:324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
MT-TL1	Orphanet:480	Kearns-Sayre syndrome
MT-TL1	Orphanet:550	MELAS
MT-TL1	Orphanet:551	MERRF
MT-TL1	Orphanet:663	Mitochondrial DNA-related progressive external ophthalmoplegia

Cohort genes → proteins

1 cohort genes, 0 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MT-TL1	HGNC:7490	ENSG00000209082		mitochondrially encoded tRNA-Leu (UUA/G) 1	clinvar

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MT-TL1	Other/Unknown	no

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
caudate nucleus	1
frontal cortex	1
right frontal lobe	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MT-TL1	118	ubiquitous	marker	frontal cortex, right frontal lobe, caudate nucleus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MT-TL1	0

Structural data

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

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

Therapeutics

Drugs indicated for this disease

1 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Lamivudine	Approved (phase 4)
Ademetionine	Phase 3 (in late-stage trials)
PEGINTERFERON ALFA-2A	Phase 3 (in late-stage trials)
PEGINTERFERON ALFA-2B	Phase 3 (in late-stage trials)
Ribavirin	Phase 3 (in late-stage trials)
Telbivudine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Fish Oil Triglycerides, Metformin, Pioglitazone.

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MT-TL1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MT-TL1

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)
MT-TL1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 129.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	75
PHASE4	16
PHASE2	15
PHASE3	12
PHASE1	5
PHASE1/PHASE2	4
PHASE2/PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00144313	PHASE4	COMPLETED	VaxTeen Hepatitis B Vaccine Booster Study
NCT00160407	PHASE4	COMPLETED	Orlistat (Xenical) in the Treatment of Overweight Patients With Nonalcoholic Steatohepatitis (NASH)
NCT00194480	PHASE4	COMPLETED	Treatment of Acute Hepatitis C Virus Infection With Pegylated Interferon in Injection Drug Users
NCT00412763	PHASE4	COMPLETED	Efficacy of Silymarin for Acute Hepatitis
NCT00596414	PHASE4	COMPLETED	Sedation and Analgesia for Transjugular Liver Biopsy: A Randomized Double Blind Placebo Controlled Trial
NCT01395654	PHASE4	UNKNOWN	Reintroduction Regimens After Hepatitis During Anti-tuberculosis Treatment
NCT01413360	PHASE4	COMPLETED	The Effect of High Dose Vitamin C on the Liver Function in Chronic Hepatitis Patients
NCT01443923	PHASE4	TERMINATED	Boceprevir Drug Combination for Hepatitis C Treatment in People With and Without HIV
NCT01724723	PHASE4	UNKNOWN	Using Entecavir to Reduce Hepatitis in Highly Viremic HBV Patients During Anti-tuberculous Treatment
NCT01833611	PHASE4	UNKNOWN	Entecavir for Chronic Hepatitis B Patients With Persistently Normal ALT
NCT02075242	PHASE4	UNKNOWN	TO Compare the Triple Drug Therapy and Dual Therapy .
NCT02764671	PHASE4	UNKNOWN	Safety and Immunogenicity of Recombinant Hepatitis B Vaccines in the Neonates
NCT03013556	PHASE4	UNKNOWN	Study on an Optimal Antiviral Treatment in HBeAg Positive Chronic Hepatitis B Patients
NCT03349008	PHASE4	UNKNOWN	Magnesium Isoglycyrrhizinate Followed by Diammonium Glycyrrhizinate and Combined With Entecavir in Chronic Hepatitis B
NCT03410953	PHASE4	COMPLETED	Vaccination Adjuved Against Hepatitis B in SNS Workers Typed as no Responders to Conventional Vaccines
NCT04618575	PHASE4	UNKNOWN	Ursodeoxycholic Acid Combined With Total Glucosides of Paeony in the Treatment of PBC With AIH Features 1
NCT07428538	PHASE3	RECRUITING	Study to Evaluate the Safety and Efficacy of Larsucosterol in Participants With Alcohol-associated Hepatitis (AH)
NCT00039871	PHASE3	COMPLETED	PEG-Intron Plus Rebetol Treatment of Chronic Hepatitis C Subjects Who Failed Response to Alpha-Interferon Plus Ribavirin (Study P02370)
NCT00076336	PHASE3	COMPLETED	Telbivudine Versus Lamivudine in Adults With Decompensated Chronic Hepatitis B and Evidence of Cirrhosis
NCT00108589	PHASE3	COMPLETED	S-Adenosylmethionine Therapy for Non-Alcoholic Steatohepatitis
NCT00147784	PHASE3	COMPLETED	HEPMET-1: Evaluate the Feasibility, Mental Sideeffects and the Efficacy of Hepatitis C Treatment in a MMT Group.
NCT00224705	PHASE3	COMPLETED	The MARS® Albumin Dialysis System in Patients With Fulminant and Subfulminant Hepatic Failure
NCT00496002	PHASE3	TERMINATED	Efficacy and Safety of Clevudine Compared With Adefovir in Patients With HBeAg Positive Chronic Hepatitis Due to Hepatitis B Virus
NCT00496158	PHASE3	TERMINATED	Efficacy and Safety of Clevudine Compared With Adefovir in Patients With Chronic Hepatitis Due to Hepatitis B Virus
NCT01121705	PHASE3	COMPLETED	Efficacy Study of New Therapeutic Schedules in Naive Hepatitis C Virus (HCV) Patients Infected With Genotype 3 (HCV-3)
NCT01380938	PHASE3	COMPLETED	Different Ribavirin Dosages and Different Duration of Treatment in Combination With PegInterferon in Patients With Genotype 2 and 3 (WRITE)
NCT01740089	PHASE2/PHASE3	COMPLETED	Algeron (Cepeginterferon Alfa-2b) Compared With PegIntron (Peginterferon Alfa-2b) for Treatment of Chronic Hepatitis C
NCT01889433	PHASE3	COMPLETED	An Open-label Comparative Efficacy and Safety Study of Algeron (Cepeginterferon Alfa-2b) in Treatment-naive Patients With Chronic Hepatitis C
NCT02103439	PHASE3	COMPLETED	An Open-label Randomized Multicenter Phase III Clinical Study Comparing Safety and Efficacy of Algeron (Cepeginterferon Alfa-2b) and and PegIntron (Peginterferon Alfa-2b) in Combination With Ribavirin as Combined Treatment of Chronic Hepatitis C in Human Immunodeficiency Virus-1 Infected Patients
NCT05738681	PHASE2/PHASE3	UNKNOWN	Efficacy of N-acetylcysteine to Prevent Anti-tuberculosis Drug-induced Liver Injury: A Randomized Controlled Trial
NCT05557448	PHASE2	RECRUITING	To Evaluate the Efficacy and Safety of TYNADOTE® in the Treatment of Acetaminophen Overdose
NCT05989958	PHASE1/PHASE2	RECRUITING	The Safety ,Tolerability and Efficacy Study of HepaCure in Chinese Subjects with Acute-On-Chronic Liver Failure
NCT00023309	PHASE2	COMPLETED	Lamivudine and Adefovir to Treat Chronic Hepatitis B
NCT00062764	PHASE2	COMPLETED	Treating Nonalcoholic Steatohepatitis With Pioglitazone
NCT00063232	PHASE2	COMPLETED	Treating Nonalcoholic Steatohepatitis (NASH) With Metformin
NCT00080236	PHASE2	COMPLETED	Safety and Efficacy Study of a Caspase Inhibitor in Patients Undergoing Liver Transplantation
NCT00088504	PHASE2	COMPLETED	Merimepodib (MMPD) in Triple Combination for the Treatment of Chronic Hepatitis C
NCT00218335	PHASE2	COMPLETED	A Network & Dyad HIV Prevention Intervention for IDU’s - 1
NCT00287469	PHASE2	COMPLETED	A Safety and Efficacy Study of the Hepatitis E Vaccine in Nepal.
NCT00771446	PHASE1/PHASE2	COMPLETED	Safety & Efficacy of the Extracorporeal Liver Assist Device (ELAD) System in Patients With Hepatic Insufficiency

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ENTECAVIR ANHYDROUS	4	9
HEPATITIS B VIRUS HBSAG SURFACE PROTEIN ANTIGEN	4	2
PEGINTERFERON ALFA-2B	4	2
PIBRENTASVIR	4	2
BOCEPREVIR	4	1
DACLATASVIR	4	1
GLECAPREVIR	4	1
ISONIAZID	4	1
LEDIPASVIR	4	1
MEPERIDINE	4	1
MIDAZOLAM	4	1
MYCOPHENOLATE MOFETIL	4	1
ORLISTAT	4	1
PEGINTERFERON ALFA-2A	4	1
PIOGLITAZONE	4	1
PYRAZINAMIDE	4	1
RIBAVIRIN	4	1
RIFAMPIN	4	1
RIFAPENTINE	4	1
TELBIVUDINE	4	1
TENOFOVIR DISOPROXIL	4	1
ADEFOVIR	3	3
CEPEGINTERFERON ALFA-2B	3	3
INTERFERON	3	3
CLEVUDINE	3	2
ADEMETIONINE	3	1
DIAMMONIUM GLYCYRRHIZINATE	3	1
FILIBUVIR	3	1
TENOFOVIR ANHYDROUS	3	1
THYMOSIN	3	1