Cytoscape Web
Click node...

Hypothyroidism due to TSH receptor mutations
1 OMIM reference -
1 associated gene
28 connected diseases
13 signs/symptoms
Disease Type of connection
Athyreosis
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Thyroid hypoplasia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Autosomal dominant hyper-IgE syndrome
Fibronectin glomerulopathy
Budd-Chiari syndrome
Familial thrombocytosis
Polycythemia vera
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Auriculocondylar syndrome
Autosomal agammaglobulinemia
Autosomal dominant hypocalcemia
Early infantile epileptic encephalopathy
Familial hypocalciuric hypercalcemia type 2
Familial male-limited precocious puberty
Familial multiple nevi flammei
Isolated thyroid-stimulating hormone deficiency
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
SHORT syndrome
Sturge-Weber syndrome
Synonym(s):
(no synonyms)
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
TSHR P16473603372
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