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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
No signs/symptoms info
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Hypohidrotic ectodermal dysplasia with immunodeficiency

HNRNPA1 IKBKG
HNRNPA2B1 NFKBIA
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
HNRNPA1
(0.9)
(0.79)
NFKBIA
NFKBIA



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Hypohidrotic ectodermal dysplasia with immunodeficiency

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

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.