ODCs

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3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Bruck syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HNRNPA1	(0.72)	PLOD2

Citations in the biomedical literature:

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		Bruck syndrome
	Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome		Synonym(s): - Osteogenesis imperfecta - congenital joint contractures

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Bruck syndrome
	Very frequent - Arthrogryposis - Autosomal recessive inheritance - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Wormian bones Frequent - Kyphosis - Pterygion - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus - Triangular face Occasional - Bowed diaphysis / diaphyses / long bones - Platyspondyly
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)