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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Oculopharyngeal muscular dystrophy

HNRNPA1 PABPN1
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HNRNPA1
(0.67)
PABPN1



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Oculopharyngeal muscular dystrophy
PABPN1



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Oculopharyngeal muscular dystrophy

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

Synonym(s):
- OPMD

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D039141

Oculopharyngeal muscular dystrophy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anomaly of the pharynx / pharyngeal anomaly
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Ptosis

Occasional
- Expressionless face / amimia


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)