ODCs

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2 OMIM references -
6 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

1 OMIM reference -
1 associated gene
13 signs/symptoms

Athyreosis

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:

Athyreosis		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: Class of prevalence: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Face / facial anomalies - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders

Athyreosis		Isolated thyroid-stimulating hormone deficiency
	Very frequent - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Hypothyroidy - Muscle weakness / flaccidity Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism		Very frequent - Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Umbilical hernia