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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial hyperthyroidism due to mutations in TSH receptor
Atelosteogenesis type III

TSHR FLNB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSHR
(0.67)
FLNB



Citations in the biomedical literature:


Familial hyperthyroidism due to mutations in TSH receptor
TSHR
Atelosteogenesis type III
FLNB



Familial hyperthyroidism due to mutations in TSH receptor
Atelosteogenesis type III

Synonym(s):
- Familial non-immune hyperthyroidism
- Resistance to thyroid stimulating hormone

Synonym(s):
- AO3
- AOIII

Classification (Orphanet):
- Rare circulatory system disease
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.