ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Hypothyroidism due to TSH receptor mutations

Familial male-limited precocious puberty


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

Citations in the biomedical literature:

Hypothyroidism due to TSH receptor mutations		Familial male-limited precocious puberty
	Synonym(s): (no synonyms)		Synonym(s): - FMPP - Familial gonadotropin-independent male-limited sexual precocity - Male-limited precocious puberty - Testotoxicosis

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare endocrine 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: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536961

Hypothyroidism due to TSH receptor mutations		Familial male-limited precocious puberty
	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		Very frequent - Advanced bone age - Autosomal dominant inheritance - Precocious puberty - Sterility / hypofertility - Tall stature / gigantism / growth acceleration Frequent - Acne / acnea - Hair and scalp anomalies - Macropenis / megapenis / large penis Occasional - Azoospermia / oligospermia / asthenospermia - Hyperactivity / attention deficit - Macroorchidism / macrotestes - Psychic / behavioural troubles