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Familial hyperthyroidism due to mutations in TSH receptor
1 OMIM reference -
1 associated gene
28 connected diseases
No signs/symptoms info
Disease Type of connection
Athyreosis
Familial gestational hyperthyroidism
Hypothyroidism due to TSH receptor mutations
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):
- Familial non-immune hyperthyroidism
- Resistance to thyroid stimulating hormone
Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TSHR P16473603372
No signs/symptoms info available.