Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial hypocalciuric hypercalcemia type 1
Terminal osseous dysplasia - pigmentary defects

CASR FLNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CASR
(0.89)
FLNA



Citations in the biomedical literature:


Familial hypocalciuric hypercalcemia type 1
CASR
Terminal osseous dysplasia - pigmentary defects
FLNA



Familial hypocalciuric hypercalcemia type 1
Terminal osseous dysplasia - pigmentary defects

Synonym(s):
- FHH type 1

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
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: normal
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
1 MeSH reference: C537145
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.