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Generalized resistance to thyroid hormone
2 OMIM references -
1 associated gene
27 connected diseases
8 signs/symptoms
Disease Type of connection
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
B-cell chronic lymphocytic leukemia
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Mantle cell lymphoma
Multiple myeloma
Severe combined immunodeficiency due to DNA-PKcs deficiency
46,XX gonadal dysgenesis
5q35 microduplication syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Charcot-Marie-Tooth disease type 2B2
Cornelia de Lange syndrome
Fibrodysplasia ossificans progressiva
Intellectual disability-strabismus syndrome
Sotos syndrome
Weaver syndrome
Alveolar rhabdomyosarcoma
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Estrogen resistance syndrome
Synonym(s):
- Deafness - thyroid hormone resistance
- Refetoff syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
THRB P10828190160
Very frequent
- Autosomal recessive inheritance
- Beaked nose
- Delayed bone age
- Pectus carinatum
- Punctate epiphyses / epiphysis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sensorineural deafness / hearing loss
- Thyroid anomalies