ODCs

Cytoscape Web

Click node...

2 OMIM references -
6 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Hypothyroidism due to TSH receptor mutations

1 OMIM reference -
1 associated gene
13 signs/symptoms

Athyreosis

Hypothyroidism due to TSH receptor mutations

FOXE1	(UniProt - OMIM)		TSHR	(UniProt - OMIM)
NKX2-1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)
PAX8	(UniProt - OMIM)
SLC26A4	(UniProt - OMIM)
TSHR	(UniProt - OMIM)


COMMON GENES	TSHR

Citations in the biomedical literature:

Athyreosis		Hypothyroidism due to TSH receptor mutations

	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 - Constipation - Face / facial anomalies - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Sleep and vigilance disorders

Athyreosis		Hypothyroidism due to TSH receptor mutations
	Very frequent - Asthenia / fatigue / weakness - Coarse face - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Muscle weakness / flaccidity Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of skin, subcutaneous tissue and mucosae - Failure to thrive / difficulties for feeding in infancy / growth delay - Hepatitis / icterus / cholestasis - Umbilical hernia