ODCs

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Familial hyperthyroidism due to mutations in TSH receptor

Hypothyroidism due to TSH receptor mutations

TSHR

Citations in the biomedical literature:

Familial hyperthyroidism due to mutations in TSH receptor		Hypothyroidism due to TSH receptor mutations
	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: (no data available)

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

Hypothyroidism due to TSH receptor mutations
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Absent / hypotonic / flaccid abdominal wall muscles - Anomalies of skin, subcutaneous tissue and mucosae - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders - Umbilical hernia
Familial hyperthyroidism due to mutations in TSH receptor
(no data available)