ODCs

Click node...

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Isolated thyroid-stimulating hormone deficiency

Familial hyperthyroidism due to mutations in TSH receptor


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSHB	(0.52)	TSHR

Citations in the biomedical literature:

Isolated thyroid-stimulating hormone deficiency		Familial hyperthyroidism due to mutations in TSH receptor
	Synonym(s): - Isolated TSH deficiency		Synonym(s): - Familial non-immune hyperthyroidism - Resistance to thyroid stimulating hormone

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

Isolated thyroid-stimulating hormone deficiency
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Autosomal recessive inheritance - Coarse face - Constipation - Face / facial anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - 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)