Larynx atresia

Summary

Larynx atresia (MONDO:0007879) is a disease. A subtype of laryngeal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 6

Clinical features

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0001601	Laryngomalacia	Very frequent (80-99%)
HP:0001608	Abnormality of the voice	Very frequent (80-99%)
HP:0002093	Respiratory insufficiency	Very frequent (80-99%)
HP:0002205	Recurrent respiratory infections	Very frequent (80-99%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0030680	Abnormal cardiovascular system morphology	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	larynx atresia
Mondo ID	MONDO:0007879
MeSH	C563637
OMIM	150300
Orphanet	1202
NCIT	C98972
SNOMED CT	64981002
UMLS	C0265756
MedGen	78572
GARD	0003194
Is cancer (heuristic)	no

Also known as: congenital atresia of larynx · congenital atresia of the larynx · congenital partial atresia of the larynx · laryngeal atresia

Disease family

This is a subtype of laryngeal disorder. 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 › upper respiratory tract disorder › laryngeal disorder › larynx atresia

Related subtypes (19): spasmodic dystonia, laryngostenosis, laryngitis, laryngeal abductor paralysis, congenital laryngomalacia, congenital laryngeal web, H syndrome, primary laryngeal lymphangioma, congenital laryngeal palsy, congenital subglottic stenosis, congenital laryngeal cyst, laryngocele, laryngeal diphtheria, laryngeal granuloma, laryngeal neoplasm, polyp of vocal cord, voice disorders, acquired laryngomalacia, idiopathic subglottic stenosis

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: 0.