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Familial hyperthyroidism due to mutations in TSH receptor

ORPHA: 424

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Familial non-immune hyperthyroidism. Resistance to thyroid stimulating hormone

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Familial hyperthyroidism due to mutations in TSH receptor, sourced from HPO and Orphanet clinical annotations.

HyperthyroidismActivating thyroid-stimulating hormone receptor defectGoiterSmall for gestational ageWeight lossDiarrheaHand tremorThyroid hyperplasiaThyrotoxicosis with diffuse goiterAgitationHyperactivityGlobal developmental delayMotor delaySleep disturbanceAccelerated skeletal maturation

Classification & Codes

Orphanet Code

ORPHA:424
Familial hyperthyroidism due to mutations in TSH receptor
OrphanetORPHA:424
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO