Familial thyroglossal duct cyst

Summary

Familial thyroglossal duct cyst (MONDO:0008565) is a disease and 2 clinical trials. 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 trials: 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		22	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	familial thyroglossal duct cyst
Mondo ID	MONDO:0008565
MeSH	C536909
OMIM	188455
Orphanet	93953
SNOMED CT	717331000
UMLS	C3495590
MedGen	501211
GARD	0005204
Is cancer (heuristic)	no

Also known as: hereditary thyroglossal duct cyst · hereditary thyroglossal duct cysts · thyroglossal duct cysts · thyroglossal duct cysts familial

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 › familial thyroglossal duct cyst

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, laryngeal neuroendocrine neoplasm, laryngotracheal angioma, facial dermoid cyst, epignathus, 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: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07148895	Not specified	ENROLLING_BY_INVITATION	Assessing Post-operative Outcomes After Children’s Sistrunk Procedure With or Without a Drain
NCT05187923	Not specified	UNKNOWN	Computer Aided Tool for Diagnosis of Neck Masses in Children