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Autosomal recessive hypophosphatemic rickets
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial drusen
2 OMIM references -
2 associated genes
No signs/symptoms info
Autosomal recessive hypophosphatemic rickets
Familial drusen

DMP1
(UniProt - OMIM)
 CFH
(UniProt - OMIM)
ENPP1
(UniProt - OMIM)
 EFEMP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DMP1
(0.52)
CFH


Citations in the biomedical literature:


Autosomal recessive hypophosphatemic rickets
DMP1 ENPP1
Familial drusen
CFH EFEMP1



Autosomal recessive hypophosphatemic rickets
Familial drusen

Synonym(s):
- ARHR
Synonym(s):
- DHRD
- Dominant drusen
- Dominant radial drusen
- Doyne honeycomb retinal dystrophy
- Malattia leventinese
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.