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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Epidermolysis bullosa simplex, Ogna type

HNRNPA1 PLEC
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
PLEC



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Epidermolysis bullosa simplex, Ogna type
PLEC



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Epidermolysis bullosa simplex, Ogna type

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

Synonym(s):
- EBS-O

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: normal
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535962

Epidermolysis bullosa simplex, Ogna type

Very frequent
- Autosomal dominant inheritance
- Bruisability
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)