Interstitial nephritis

Summary

Interstitial nephritis (MONDO:0001085) is a disease with 1 cohort gene and 5 clinical trials. Top therapeutic interventions include potassium citrate anhydrous and omalizumab.

At a glance

• Cohort genes: 1
• ClinVar variants: 2
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	interstitial nephritis
Mondo ID	MONDO:0001085
MeSH	D009395
DOID	DOID:1063
ICD-10-CM	N10-N16
NCIT	C26834
SNOMED CT	28689008
UMLS	C0041349
MedGen	11952
Is cancer (heuristic)	no

Also known as: Tubulointerstitial nephritis

Data availability: 2 ClinVar variants.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › nephritis › interstitial nephritis

Related subtypes (3): glomerulonephritis, hereditary nephritis, pyelitis

Subtypes (2): Balkan nephropathy, karyomegalic interstitial nephritis

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

2 retrieved; paginated sample, class counts are floors:

1 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
9576	NC_012920.1(MT-TF):m.616T>C	MT-TF	Likely pathogenic	reviewed by expert panel
30006	NC_012920.1(MT-TF):m.608A>G	MT-TF	Uncertain significance	reviewed by expert panel

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MT-TF	Orphanet:550	MELAS
MT-TF	Orphanet:551	MERRF
MT-TF	Orphanet:620371	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

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-TF	HGNC:7481	ENSG00000210049		mitochondrially encoded tRNA-Phe (UUU/C)	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-TF	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
amygdala	1
prefrontal cortex	1
skeletal muscle tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MT-TF	118	ubiquitous	marker	prefrontal cortex, amygdala, skeletal muscle tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MT-TF	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

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Omalizumab, Prednisone.

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-TF	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-TF

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-TF	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01893658	PHASE2	WITHDRAWN	Xolair (Omalizumab) for Treatment of Drug-induced Acute Tubulointerstitial Nephritis (AIN)
NCT04343417	Not specified	ENROLLING_BY_INVITATION	Biorepository to Support Research in Kidney Diseases
NCT07010250	Not specified	NOT_YET_RECRUITING	Epithelial Dysmetabolism and Renal Fibrosis in ANCA Vasculitis
NCT03836144	Not specified	COMPLETED	Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria
NCT05233241	Not specified	UNKNOWN	Identification of the Causative Drug in Drug-induced Acute Interstitial Nephritis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
POTASSIUM CITRATE ANHYDROUS	4	2
OMALIZUMAB	4	1