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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
Hereditary sensory and autonomic neuropathy with spastic paraplegia
1 OMIM reference -
1 associated gene
13 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Hereditary sensory and autonomic neuropathy with spastic paraplegia

HNRNPA1
(UniProt - OMIM)
 CCT5
(UniProt - OMIM)
HNRNPA2B1
(UniProt - OMIM)
VCP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VCP
(0.73)
CCT5


Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome
Synonym(s):
- HSAN with spastic paraplegia
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: 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
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Very frequent
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)