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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
Infantile-onset ascending hereditary spastic paralysis
1 OMIM reference -
1 associated gene
10 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile-onset ascending hereditary spastic paralysis

HNRNPA1
(UniProt - OMIM)
 ALS2
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VCP
(0.63)
ALS2


Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Infantile-onset ascending hereditary spastic paralysis
ALS2



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile-onset ascending hereditary spastic paralysis

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Synonym(s):
- IAHSP
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Infantile-onset ascending hereditary spastic paralysis

Very frequent
- Autosomal recessive inheritance
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Pyramidal syndrome
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal eye movements / oculomotor disorder
- Pseudobulbar signs / spasmodic laugh and cry



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)