Congenital nasal pyriform aperture stenosis with holoprosencephaly

Summary

Congenital nasal pyriform aperture stenosis with holoprosencephaly (MONDO:0015569) is a disease. A subtype of otorhinolaryngologic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital nasal pyriform aperture stenosis with holoprosencephaly
Mondo ID	MONDO:0015569
Orphanet	162521
UMLS	C5437790
MedGen	1747766
Is cancer (heuristic)	no

Also known as: apertura pyriformis with holoprosencephaly

Disease family

This is a subtype of otorhinolaryngologic disease. 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 › otorhinolaryngologic disease › congenital nasal pyriform aperture stenosis with holoprosencephaly

Related subtypes (39): bifid nose, autoimmune disease of ear, nose and throat, nasal disorder, atresia of external auditory canal and conductive deafness, external auditory canal atresia-vertical talus-hypertelorism syndrome, laryngeal abductor paralysis, larynx atresia, congenital velopharyngeal incompetence, microtia, congenital tracheal stenosis, laryngeal neuroendocrine neoplasm, arrhinia, laryngotracheal angioma, epignathus, nasolacrimal duct cyst, polyrrhinia, supernumerary nostril, proboscis lateralis, nasal glial heterotopia, nasal ganglioglioma, nasal encephalocele, isolated congenital syngnathia, cysts and fistulae of the face and oral cavity, isolated congenital nasal pyriform aperture stenosis, middle ear anomaly, idiopathic bilateral vestibulopathy, mal de Debarquement, juvenile nasopharyngeal angiofibroma, tracheal agenesis, semicircular canal dehiscence syndrome, hereditary otorhinolaryngologic disease, supratip dysplasia, recurrent respiratory papillomatosis, silent sinus syndrome, anotia, congenital tracheomalacia, disorder of pharynx, disorder of ear, lip and oral cavity squamous cell carcinoma

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.