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Familial hyperthyroidism due to mutations in TSH receptor

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

2 OMIM references -
6 associated genes
14 signs/symptoms

Familial hyperthyroidism due to mutations in TSH receptor

Athyreosis

TSHR	(UniProt - OMIM)		FOXE1	(UniProt - OMIM)
			NKX2-1	(UniProt - OMIM)
			NKX2-5	(UniProt - OMIM)
			PAX8	(UniProt - OMIM)
			SLC26A4	(UniProt - OMIM)
			TSHR	(UniProt - OMIM)


COMMON GENES	TSHR

Citations in the biomedical literature:

Familial hyperthyroidism due to mutations in TSH receptor		Athyreosis
	Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Athyreosis
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Muscle weakness / flaccidity - Sleep and vigilance disorders Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)