First branchial cleft anomaly

Summary

First branchial cleft anomaly (MONDO:0015376) is a disease. A subtype of cysts and fistulae of the face and oral cavity — 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	first branchial cleft anomaly
Mondo ID	MONDO:0015376
Orphanet	141013
ICD-11	1956658224
SNOMED CT	73371000119103
UMLS	C3874320
MedGen	848144
GARD	0019934
Is cancer (heuristic)	no

Also known as: first branchial cleft cyst · first branchial cleft fistula

Disease family

This is a subtype of cysts and fistulae of the face and oral cavity. 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 developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › cysts and fistulae of the face and oral cavity › first branchial cleft anomaly

Related subtypes (12): second branchial cleft anomaly, familial thyroglossal duct cyst, third branchial cleft anomaly, fourth branchial cleft anomaly, cervical dermoid cyst, facial dermoid cyst, commissural lip fistula, lower lip fistula, cervicofacial fibrochondroma, digestive duplication cyst of the tongue, nasal dorsum fistula/cyst, pinnae fistula or cyst

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.