Pulmonary blastoma

Summary

Pulmonary blastoma (MONDO:0005933) is a disease and 1 clinical trial. A subtype of blastoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 9
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

8 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		350	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated
Annual incidence	<1 / 1 000 000		Europe	Validated
Annual incidence	<1 / 1 000 000	0.002	Belgium	Validated
Annual incidence	<1 / 1 000 000	0.005	Finland	Validated
Annual incidence	<1 / 1 000 000	0.001	Germany	Validated
Annual incidence	<1 / 1 000 000	0.002	Italy	Validated
Annual incidence	<1 / 1 000 000	0.002	Netherlands	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0002105	Hemoptysis	Very frequent (80-99%)
HP:0002113	Pulmonary infiltrates	Very frequent (80-99%)
HP:0012735	Cough	Very frequent (80-99%)
HP:0100528	Pleuropulmonary blastoma	Very frequent (80-99%)
HP:0100749	Chest pain	Very frequent (80-99%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002094	Dyspnea	Frequent (30-79%)
HP:0006532	Recurrent pneumonia	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pulmonary blastoma
Mondo ID	MONDO:0005933
EFO	EFO:0007458
MeSH	D018202
Orphanet	64741
DOID	DOID:4765
NCIT	C3732
SNOMED CT	189815007
UMLS	C0206629
MedGen	61645
GARD	0018864
Anatomy (UBERON)	UBERON:0002048
Is cancer (heuristic)	no

Also known as: blastoma of lung · blastoma of the lung · lung blastoma · Pneumoblastoma · pulmonary blastoma

Data availability: 2 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › blastoma › pulmonary blastoma

Related subtypes (2): gonadoblastoma, pituitary blastoma

Subtypes (3): classic pulmonary blastoma, epithelial predominant pulmonary blastoma, pleuropulmonary blastoma

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07005297	Not specified	NOT_YET_RECRUITING	Clinical Genetics Branch Eligibility Screening Survey