Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Summary

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha (MONDO:0034216) is a disease. A subtype of thyroid hormone resistance syndrome — 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
Cases/families		35	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Mondo ID	MONDO:0034216
Orphanet	566231
UMLS	C5680127
MedGen	1830097
GARD	0022275
Is cancer (heuristic)	no

Also known as: resistance to thyroid hormone alpha

Disease family

This is a subtype of thyroid hormone resistance syndrome. 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 › endocrine system disorder › thyroid gland disorder › inherited thyroid metabolism disease › thyroid hormone resistance syndrome › resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Related subtypes (3): generalized resistance to thyroid hormone, selective peripheral resistance to thyroid hormone, resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

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.