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3 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Atelosteogenesis type I

MUC1 FLNB
UMOD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MUC1
(0.63)
FLNB



Citations in the biomedical literature:


Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD
Atelosteogenesis type I
FLNB



Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Atelosteogenesis type I

Synonym(s):
- Autosomal dominant nephronophthisis

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535396

No signs/symptoms info available.