Selective peripheral resistance to thyroid hormone

Summary

Selective peripheral resistance to thyroid hormone (MONDO:0020711) 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).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	selective peripheral resistance to thyroid hormone
Mondo ID	MONDO:0020711
GARD	0025218
Is cancer (heuristic)	no

Also known as: PerRTH

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 › selective peripheral resistance to thyroid hormone

Related subtypes (3): generalized resistance to thyroid hormone, resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha, 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.