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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Combined immunodeficiency due to STK4 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Combined immunodeficiency due to STK4 deficiency

HNRNPA1
(UniProt - OMIM)
 STK4
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HNRNPA2B1
(0.63)
STK4


Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Combined immunodeficiency due to STK4 deficiency
STK4



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Combined immunodeficiency due to STK4 deficiency

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Synonym(s):
- CID due to STK4 deficiency
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.