Epignathus

Summary

Epignathus (MONDO:0015386) is a disease. A subtype of head and neck neoplasm — 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]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000	0.0017	Worldwide	Validated
Prevalence at birth	1-9 / 100 000	1.68	Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	epignathus
Mondo ID	MONDO:0015386
Orphanet	141077
ICD-11	7319064
SNOMED CT	31248004
UMLS	C0266725
MedGen	540117
GARD	0019943
Is cancer (heuristic)	no

Also known as: Epignathus · epignathus (disease) · oropharyngeal teratoma

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of head and neck neoplasm. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › head and neck neoplasm › epignathus

Related subtypes (36): cranial nerve neoplasm, cavernous hemangioma of face, gasserian ganglion meningioma, nasal cavity neoplasm, palatal neoplasm, nasopharyngeal neoplasm, head and neck cancer, head and neck paraganglioma, nasal cavity and paranasal sinus lethal midline granuloma, familial thyroglossal duct cyst, laryngeal neuroendocrine neoplasm, laryngotracheal angioma, facial dermoid cyst, nasal glial heterotopia, nasal ganglioglioma, malignant epithelial tumor of salivary glands, benign epithelial tumor of salivary glands, juvenile nasopharyngeal angiofibroma, recurrent respiratory papillomatosis, ocular adnexal lymphoma, gingival neoplasm, odontogenic neoplasm, eye neoplasm, ear neoplasm, tongue neoplasm, buccal mucosa neoplasm, lip neoplasm, tonsil neoplasm, neoplasm of neck, tumor of salivary gland, neoplasm of hypopharynx, neoplasm of oropharynx, neoplasm of floor of mouth, lipoma of face, skull neoplasm, nasal cavity and paranasal sinus neoplasm

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.