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Isolated thyroid-stimulating hormone deficiency
1 OMIM reference -
1 associated gene
5 connected diseases
13 signs/symptoms
Disease Type of connection
Athyreosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Thyroid hypoplasia
Synonym(s):
- Isolated TSH deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TSHB P01222188540
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