Chronic beryllium disease

Summary

Chronic beryllium disease (MONDO:0015274) is a disease and 6 clinical trials. Top therapeutic interventions include infliximab and mesalamine. A subtype of pneumoconiosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 19
• Clinical trials: 6

Clinical features

Signs & symptoms

Clinical features (HPO)

19 HPO clinical features (Orphanet curated; top 19 by frequency):

HPO ID	Term	Frequency
HP:0002795	Abnormal respiratory system physiology	Very frequent (80-99%)
HP:0006516	Hypersensitivity pneumonitis	Very frequent (80-99%)
HP:0100326	Immunologic hypersensitivity	Very frequent (80-99%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0002094	Dyspnea	Frequent (30-79%)
HP:0005607	Abnormal tracheobronchial morphology	Frequent (30-79%)
HP:0006527	Lymphoid interstitial pneumonia	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0012735	Cough	Frequent (30-79%)
HP:0025179	Ground-glass opacification on pulmonary HRCT	Frequent (30-79%)
HP:0025393	Reticulonodular pattern on pulmonary HRCT	Frequent (30-79%)
HP:0025439	Pharyngitis	Frequent (30-79%)
HP:0030877	Reduced FEV1/FVC ratio	Frequent (30-79%)
HP:0030878	Abnormality on pulmonary function testing	Frequent (30-79%)
HP:0031392	Abnormal proportion of CD4 T cells	Frequent (30-79%)
HP:0002206	Pulmonary fibrosis	Occasional (5-29%)
HP:0100721	Mediastinal lymphadenopathy	Occasional (5-29%)
HP:0011121	Abnormal skin morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic beryllium disease
Mondo ID	MONDO:0015274
EFO	EFO:0007168
MeSH	D001607
Orphanet	133
DOID	DOID:10322
ICD-11	212013370
SNOMED CT	18121009
UMLS	C0221052
MedGen	67440
GARD	0000867
MedDRA	10004485
Is cancer (heuristic)	no

Also known as: acute berylliosis · berylliosis · beryllium disease · Beryllliosis · chronic berylliosis · chronic beryllium lung disease · chronic pulmonary berylliosis · reversible berylliosis · Subacute berylliosis

Disease family

This is a subtype of pneumoconiosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › interstitial lung disease › pneumoconiosis › chronic beryllium disease

Related subtypes (13): mixed mineral dust pneumoconiosis, baritosis, pneumoconiosis due to talc, slate pneumoconiosis, Caplan syndrome, silicosis, anthracosilicosis, anthracosis, byssinosis, pulmonary hemosiderosis, asbestosis, mixed dust pneumoconiosis, graphite pneumoconiosis

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

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Prednisone	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE1/PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00111917	PHASE1/PHASE2	TERMINATED	Beryllium Infliximab Study: Clinical Interventional Trial
NCT01088243	PHASE1/PHASE2	COMPLETED	Targeting Oxidative Stress in Chronic Beryllium Disease
NCT00560989	Not specified	COMPLETED	Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis
NCT02596347	Not specified	COMPLETED	The Role of JAK2 in Alveolar Macrophages (AM’s) in Chronic Beryllium Disease (CBD)
NCT02604693	Not specified	COMPLETED	Exposure in Epigenetic Regulation of Immune Response in Chronic Beryllium Disease (CBD)
NCT06113991	Not specified	UNKNOWN	Study Comparing Chronic Beryllium Disease to Pulmonary Sarcoidosis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
INFLIXIMAB	4	1
MESALAMINE	4	1