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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
Atelosteogenesis type I
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

FLNB ACTN4
ADCK4
ARHGAP24
CD2AP
INF2
MYO1E
NPHS1
NPHS2
PLCE1
PTPRO
TRPC6
WT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
ACTN4



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
ACTN4 ADCK4 ARHGAP24 CD2AP INF2 MYO1E
NPHS1 NPHS2 PLCE1 PTPRO TRPC6 WT1



Atelosteogenesis type I
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

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

Synonym(s):
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the genitourinary system -

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
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
11 OMIM references -
No MeSH references

No signs/symptoms info available.