ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10

1 OMIM reference -
1 associated gene
13 signs/symptoms

Hypothyroidism due to TSH receptor mutations

Isolated thyroid-stimulating hormone deficiency


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

Citations in the biomedical literature:

Hypothyroidism due to TSH receptor mutations		Isolated thyroid-stimulating hormone deficiency
	Synonym(s): (no synonyms)		Synonym(s): - Isolated TSH deficiency

	Classification (Orphanet): - Rare endocrine disease - Rare genetic 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: (no data available)		Epidemiological data: (no data available)

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


COMMON SIGNS	- Absent / hypotonic / flaccid abdominal wall muscles - 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

Hypothyroidism due to TSH receptor mutations		Isolated thyroid-stimulating hormone deficiency
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of skin, subcutaneous tissue and mucosae - Hypothyroidy		Very frequent - Asthenia / fatigue / weakness - Autosomal recessive inheritance - Coarse face