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Disease

hypothyroidism due to TSH receptor mutations

Also known as CHNG1, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1, congenital nongoitrous hypothyroidism 1+6 more

CHNG1, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1, congenital nongoitrous hypothyroidism 1, hypothyroidism due to unresponsiveness to thyrotropin, hypothyroidism, Nonautoimmune, hypothyroidism, congenital, due to TSH resistance, hypothyroidism, congenital, nongoitrous, 1, thyroid-stimulating hormone, resistance to, thyrotropin resistance.

4
Associated genes
2
Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Mecaserminapproved

Approval — For the long-term treatment of growth failure in children and adolescents with severe pri… (2007)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2007emaApproval — Mecasermin· For the long-term treatment of growth failure in children and adolescents with severe primary insulin-like-growth-factor-1 deficiency (primary IGFD). Severe primary IGFD is defined by: height standard deviation score ? -3.0 and; basal insulin-like growth factor-1 (IGF-1) levels below the 2.5th percentile for age and gender and; growth hormone (GH) sufficiency; exclusion of secondary forms of IGF-1 deficiency, such as malnutrition, hypothyroidism, or chronic treatment with pharmacologic doses of anti-inflammatory steroids. Severe primary IGFD includes patients with mutations in the GH receptor (GHR), post-GHR signalling pathway, and IGF-1 gene defects; they are not GH deficient, and therefore, they cannot be expected to respond adequately to exogenous GH treatment. It is recommended to confirm the diagnosis by conducting an IGF-1 generation test. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

4 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

TSHR0.83THRA0.58CEP1280.43C14orf930.07

Disease biology

2 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Thyrotropin receptorvia TSHR0.83Thyroid hormone receptor alphavia THRA0.58

Reference

Authoritative identity, definition & identifiers.

Synonyms

CHNG1, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1, congenital nongoitrous hypothyroidism 1, hypothyroidism due to unresponsiveness to thyrotropin, hypothyroidism, Nonautoimmune, hypothyroidism, congenital, due to TSH resistance, hypothyroidism, congenital, nongoitrous, 1, thyroid-stimulating hormone, resistance to, thyrotropin resistance

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.