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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
3 OMIM references -
3 associated genes
No signs/symptoms info
Atelosteogenesis type I
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

FLNB HNRNPA1
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
FLNB
(0.63)
(0.49)
HNRNPA1
VCP



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Atelosteogenesis type I
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous 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:
3 OMIM references -
No MeSH references

No signs/symptoms info available.