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

IKBKG HNRNPA1
NFKBIA HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

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

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

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

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

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

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

No signs/symptoms info available.