Arrhinia

Summary

Arrhinia (MONDO:0015237) is a disease. A subtype of otorhinolaryngologic disease — 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]
• ClinVar variants: 1
• Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		20	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000430	Underdeveloped nasal alae	Frequent (30-79%)
HP:0000568	Microphthalmia	Frequent (30-79%)
HP:0000625	Eyelid coloboma	Frequent (30-79%)
HP:0002006	Facial cleft	Frequent (30-79%)
HP:0002098	Respiratory distress	Frequent (30-79%)
HP:0004122	Midline defect of the nose	Frequent (30-79%)
HP:0004646	Hypoplasia of the nasal bone	Frequent (30-79%)
HP:0005273	Absent nasal septal cartilage	Frequent (30-79%)
HP:0008551	Microtia	Frequent (30-79%)
HP:0009935	Aplasia/Hypoplasia of the nasal septum	Frequent (30-79%)
HP:0009927	Aplasia of the nose	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	arrhinia
Mondo ID	MONDO:0015237
MeSH	C537438
Orphanet	1134
ICD-11	409489963
SNOMED CT	111317000
UMLS	C0265740
MedGen	120555
GARD	0000364
Is cancer (heuristic)	no

Also known as: congenital absence of the nose · isolated nose agenesis · Nose agenesia · Nose agenesis

Data availability: 1 ClinVar variant.

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 › arrhinia

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, 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, congenital nasal pyriform aperture stenosis with holoprosencephaly, 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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
267894	46;XX;t(4;13)(q27;q21.2)dn		Uncertain significance	criteria provided, single submitter

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.