Interstitial lung disease specific to childhood

Summary

Interstitial lung disease specific to childhood (MONDO:0017014) is a disease (an umbrella term covering 5 Mondo subtypes) with 1 cohort gene and 234 clinical trials. Top therapeutic interventions include clemastine, thiamine ion, and brentuximab vedotin.

At a glance

• Umbrella term: 5 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 234

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	interstitial lung disease specific to childhood
Mondo ID	MONDO:0017014
Orphanet	264656
SNOMED CT	328661000119108
UMLS	C5679752
MedGen	1842412
Is cancer (heuristic)	no

Also known as: chILD · chILD syndrome · childhood interstitial lung disease · ILD specific to childhood · interstitial lung disease of childhood · paediatric interstitial lung disease · pediatric interstitial lung disease

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › interstitial lung disease › interstitial lung disease specific to childhood

Related subtypes (13): pulmonary fibrosis, bronchiolitis obliterans syndrome, pneumoconiosis, pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome, isolated pulmonary capillaritis, interstitial lung disease specific to adulthood, drug or radiation exposure-related interstitial lung disease, hypersensitivity pneumonitis, secondary pulmonary hemosiderosis, inherited interstitial lung disease, radiation pneumonitis, bronchiolocentric pattern of interstitial pneumonia, idiopathic pulmonary fibrosis

Subtypes (5): Niemann-Pick disease type B, Hermansky-Pudlak syndrome with pulmonary fibrosis, primary interstitial lung disease specific to childhood, familial hypocalciuric hypercalcemia, congenital emphysematous lung disease due to Filamin A loss-of-function variant

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 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3370503	NM_004465.2(FGF10):c.626A>G (p.Ter209Trp)	FGF10	Likely pathogenic	criteria provided, single submitter

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)

Gene	Orphanet ID	Rare disease
FGF10	Orphanet:2363	Lacrimoauriculodentodigital syndrome
FGF10	Orphanet:86815	Aplasia of lacrimal and salivary glands

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
FGF10	HGNC:3666	ENSG00000070193	O15520	Fibroblast growth factor 10	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FGF10	Fibroblast growth factor 10	Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation.

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)
FGF10	Other/Unknown	no		Fibroblast_GF_fam, IL1/FGF

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
buccal mucosa cell	1
endocervix	1
synovial joint	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FGF10	169	broad	marker	buccal mucosa cell, synovial joint, endocervix

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FGF10	4,233

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FGF10	O15520	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 24. 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
Regulation of gene expression in early pancreatic precursor cells	1	1427.5×	0.003	FGF10
FGFR1b ligand binding and activation	1	1268.9×	0.003	FGF10
FGFR2b ligand binding and activation	1	1142.0×	0.003	FGF10
FGFRL1 modulation of FGFR1 signaling	1	878.5×	0.003	FGF10
Developmental Lineage of Mammary Stem Cells	1	761.3×	0.003	FGF10
Activated point mutants of FGFR2	1	671.8×	0.003	FGF10
Phospholipase C-mediated cascade: FGFR1	1	671.8×	0.003	FGF10
Phospholipase C-mediated cascade; FGFR2	1	634.4×	0.003	FGF10
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	1	601.0×	0.003	FGF10
Downstream signaling of activated FGFR1	1	543.8×	0.003	FGF10
PI-3K cascade:FGFR1	1	519.1×	0.003	FGF10
SHC-mediated cascade:FGFR1	1	496.5×	0.003	FGF10
PI-3K cascade:FGFR2	1	496.5×	0.003	FGF10
SHC-mediated cascade:FGFR2	1	475.8×	0.003	FGF10
FRS-mediated FGFR1 signaling	1	456.8×	0.003	FGF10
FRS-mediated FGFR2 signaling	1	439.2×	0.003	FGF10
Negative regulation of FGFR1 signaling	1	368.4×	0.004	FGF10
Negative regulation of FGFR2 signaling	1	368.4×	0.004	FGF10
PI3K Cascade	1	271.9×	0.005	FGF10
Signaling by FGFR2 in disease	1	265.6×	0.005	FGF10
Constitutive Signaling by Aberrant PI3K in Cancer	1	126.9×	0.009	FGF10
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	1	96.8×	0.011	FGF10
PIP3 activates AKT signaling	1	66.8×	0.016	FGF10
RAF/MAP kinase cascade	1	61.1×	0.016	FGF10

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
embryonic genitalia morphogenesis	1	16852.0×	6e-04	FGF10
regulation of activin receptor signaling pathway	1	16852.0×	6e-04	FGF10
urothelial cell proliferation	1	16852.0×	6e-04	FGF10
positive regulation of urothelial cell proliferation	1	16852.0×	6e-04	FGF10
bronchiole morphogenesis	1	16852.0×	6e-04	FGF10
mesenchymal-epithelial cell signaling involved in lung development	1	16852.0×	6e-04	FGF10
fibroblast growth factor receptor signaling pathway involved in mammary gland specification	1	16852.0×	6e-04	FGF10
submandibular salivary gland formation	1	16852.0×	6e-04	FGF10
semicircular canal fusion	1	16852.0×	6e-04	FGF10
lung proximal/distal axis specification	1	16852.0×	6e-04	FGF10
positive regulation of hair follicle cell proliferation	1	16852.0×	6e-04	FGF10
regulation of saliva secretion	1	8426.0×	7e-04	FGF10
mammary gland bud formation	1	8426.0×	7e-04	FGF10
branch elongation involved in salivary gland morphogenesis	1	8426.0×	7e-04	FGF10
mesenchymal cell differentiation involved in lung development	1	8426.0×	7e-04	FGF10
positive regulation of white fat cell proliferation	1	8426.0×	7e-04	FGF10
fibroblast growth factor receptor apoptotic signaling pathway	1	8426.0×	7e-04	FGF10
female genitalia morphogenesis	1	5617.3×	9e-04	FGF10
bud outgrowth involved in lung branching	1	5617.3×	9e-04	FGF10
secretion by lung epithelial cell involved in lung growth	1	5617.3×	9e-04	FGF10
metanephros morphogenesis	1	4213.0×	1e-03	FGF10
salivary gland development	1	4213.0×	1e-03	FGF10
prostatic bud formation	1	4213.0×	1e-03	FGF10
tear secretion	1	4213.0×	1e-03	FGF10
white fat cell proliferation	1	4213.0×	1e-03	FGF10
male genitalia morphogenesis	1	3370.4×	0.001	FGF10
epithelial cell proliferation involved in salivary gland morphogenesis	1	3370.4×	0.001	FGF10
regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	1	3370.4×	0.001	FGF10
Harderian gland development	1	3370.4×	0.001	FGF10
muscle cell fate commitment	1	2808.7×	0.001	FGF10

Therapeutics

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
FGF10	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	FGF10

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)
FGF10	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 234.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	207
PHASE4	13
PHASE3	6
PHASE2	6
PHASE2/PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04577690	PHASE4	RECRUITING	PECS Study for CIED Implantation Surgery
NCT06320626	PHASE4	RECRUITING	Pharmacokinetic-guided Dosing of Emicizumab
NCT00462371	PHASE4	COMPLETED	Comparison Between Insulin Pump Treatment and Multiple Daily Insulin Injections in Diabetic Type 1 Children
NCT01154595	PHASE4	COMPLETED	Effectiveness of a Ready-to-Use-Food (RUF) Supplement to Prevent Acute Child Malnutrition
NCT01204411	PHASE4	WITHDRAWN	Efficacy of Artesunate-amodiaquine (AS-AQ) in Children With Malaria and Severe Acute Malnutrition, Madaoua, Niger 2010
NCT02248493	PHASE4	COMPLETED	Intravenous Paracetamol for Postoperative Pain
NCT02300701	PHASE4	COMPLETED	Role of Anti-IgE in Severe Childhood Eczema
NCT02464865	PHASE4	COMPLETED	Thiamin Deficiency in Obese Thai Children
NCT02738814	PHASE4	UNKNOWN	Propofol for Treatment on Emergence Agitation
NCT02985177	PHASE4	WITHDRAWN	A RCT of a Combination of Analgesics for Pain Management in Children With a Suspected Fracture
NCT03426462	PHASE4	COMPLETED	Time to Peak Effect of Propofol in Children
NCT05515887	PHASE4	COMPLETED	Influence of Shenqu Xiaoshi Oral Liquid on Intestinal Microbiome of Children With Functional Dyspepsia
NCT06037915	PHASE4	COMPLETED	Airway Interventions During Intravenous Anesthesia in Children Undergoing Direct Laryngoscopy for Surgical Procedures Using High Flow Nasal Versus Low Flow Oxygen. A Pilot Study.(Flowkid)
NCT06563245	PHASE2/PHASE3	RECRUITING	Brentuximab Vedotin for Newly Diagnosed cHL in Chinese CAYA Based on PET/CT Assessment
NCT07336095	PHASE3	NOT_YET_RECRUITING	Melatonin vs Midazolam in Children Undergoing Tonsillectomy
NCT00408135	PHASE3	COMPLETED	Japanese Study Evaluating Safety, Efficacy and Acceptability of Telithromycin in Children With Infections
NCT01122927	PHASE3	TERMINATED	Safety and Tolerability of Aripiprazole in Adolescents With Schizophrenia or Children and Adolescents With Bipolar I Disorder, Manic or Mixed Episode With or Without Psychotic Features.
NCT01552642	PHASE3	COMPLETED	An Interactive Web-based Intervention to Achieve Healthy Weight in Young Children
NCT02338440	PHASE2/PHASE3	UNKNOWN	Pharmacokinetic Study of Lipo-PGE1 for Prevention of VOD After HSCT
NCT02348073	PHASE3	COMPLETED	Efficacy of Phosphatidylserine Enriched With n-3 PUFA Supplementation on ADHD in Children With Epilepsy
NCT05799053	PHASE3	COMPLETED	Peppermint Oil for the Treatment of Irritable Bowel Syndrome or Functional Abdominal Pain in Children: the MINT Study
NCT05999994	PHASE2	RECRUITING	A Master Protocol (LY900023) That Includes Several Clinical Trials of Drugs for Children and Young Adults With Cancer
NCT01110642	PHASE2	WITHDRAWN	Novel Treatment for Syndromic Ichthyoses
NCT02339350	PHASE2	UNKNOWN	Treatment of Newly Diagnosed High Risk Acute Lymphoblastic Leukemia in Children
NCT03741101	PHASE2	UNKNOWN	Treatment of NF1-related Plexiform Neurofibroma With Trametinib
NCT06164600	PHASE2	COMPLETED	Bovine Colostrum for Prophylaxis Against Recurrent Urinary Tract Infection in Children
NCT06315699	PHASE2	COMPLETED	Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome
NCT02852928	Not specified	RECRUITING	European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank
NCT03426579	Not specified	RECRUITING	Correlation Between Sedation Depth Monitoring and Reflexes During Intravenous Anesthesia With Dexmedetomidine and Remifentanil in Children Undergoing Direct Laryngoscopy for Surgical Procedures
NCT04022460	Not specified	ACTIVE_NOT_RECRUITING	Using Personal Mobile Technology to Identify Obstructive Sleep Apnea in Children With Down Syndrome (UPLOAD)
NCT04528810	Not specified	NOT_YET_RECRUITING	A Study of Child Injury Based on Data Mining
NCT04989790	Not specified	RECRUITING	Clinical Effectiveness of the PICU Up! Multifaceted Early Mobility Intervention for Critically Ill Children
NCT05016271	Not specified	ACTIVE_NOT_RECRUITING	Health Benefits of Air Purifiers in Primary School Students
NCT05047354	Not specified	RECRUITING	Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
NCT05615324	Not specified	ACTIVE_NOT_RECRUITING	SAFIR Family Talk - Investigating the Effect of The Family Talk Intervention
NCT05790785	Not specified	RECRUITING	Vascular Complications in Children From T1D Diagnosis
NCT05849753	Not specified	RECRUITING	Breaking Disparities in Access to Advanced Diabetes Technologies in Children With Type 1 Diabetes
NCT05914324	Not specified	ACTIVE_NOT_RECRUITING	Outpatient Pediatric Pulse Oximeters in Africa
NCT06047821	Not specified	ACTIVE_NOT_RECRUITING	Enterics for Global Health (EFGH)
NCT06092671	Not specified	RECRUITING	Effect of FPCA on Incidence of Emergency Delirium in Children After Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CLEMASTINE	4	3
THIAMINE ION	4	2
BRENTUXIMAB VEDOTIN	4	1
DACARBAZINE	4	1
HYDROCODONE	4	1
IBUPROFEN	4	1
KETOPROFEN	4	1
LOVASTATIN	4	1
MORPHINE	4	1
OMALIZUMAB	4	1
TELITHROMYCIN	4	1
TISLELIZUMAB	4	1
TRAMADOL	4	1
TRAMETINIB	4	1
WATER	4	1
PEPPERMINT	3	1
STARCH, CORN	3	1
CHEMBL4059722	0	1
CHEMBL4589226	0	1
CHEMBL5592090	0	1
CHEMBL1215848	0	1
CHEMBL1574179	0	1
CHEMBL5433950	0	1
(R,R)-TRAMADOL	0	1