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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
8 signs/symptoms
Estrogen resistance syndrome
Generalized resistance to thyroid hormone

ESR1 THRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ESR1
(0.52)
THRB



Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Generalized resistance to thyroid hormone
THRB



Estrogen resistance syndrome
Generalized resistance to thyroid hormone

Synonym(s):
(no synonyms)

Synonym(s):
- Deafness - thyroid hormone resistance
- Refetoff syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Generalized resistance to thyroid hormone

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



Estrogen resistance syndrome

(no data available)