1. Mendelian
  2. Rare Diseases
  3. HYPERTHYROIDISM, NONAUTOIMMUNE

Familial Hyperthyroidism Due To Mutations In Tsh Receptor

Table of contents:

Description

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

Genes related to Familial Hyperthyroidism Due To Mutations In Tsh Receptor

  • TSHR

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Clinical Features

Top most frequent phenotypes and symptoms related to Familial Hyperthyroidism Due To Mutations In Tsh Receptor

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea
  • Abnormality of metabolism/homeostasis
  • Hyperactivity
  • Weight loss
  • Proptosis
  • Small for gestational age

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Familial Hyperthyroidism Due To Mutations In Tsh Receptor Is also known as hyperthyroidism, nonautoimmune, autosomal dominant, toxic thyroid hyperplasia, autosomal dominant, familial non-immune hyperthyroidism, resistance to thyroid stimulating hormone, hyperthyroidism, congenital nonautoimmune.

Researches and researchers

Doctors, researchs, and experts related to Familial Hyperthyroidism Due To Mutations In Tsh Receptor extracted from public data.

Familial Hyperthyroidism Due To Mutations In Tsh Receptor Experts map



Current Researchs and researchers

  • ANGERS — Pr Patrice RODIEN

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Manager of registry

    • Institution/s:
      — CHU d'Angers
      — Département de Biochimie et Génétique, CHU d'Angers
    • Research area/topic::

      Structure-function relationship of the TSH receptor and of the related receptors


  • TOULOUSE — Pr Frédérique SAVAGNER

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Institut fédératif de biologie, CHU de Toulouse - Hôpital Purpan
      — UMR 1048 Inserm / Université Toulouse III Paul Sabatier, CHU de Toulouse - Hôpital Rangueil
    • Research area/topic::

      Structure-function relationship of the TSH receptor and of the related receptors


Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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