ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Naxos disease

Bruck syndrome

JUP	(UniProt - OMIM)		FKBP10	(UniProt - OMIM)
			PLOD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.63)	PLOD2

Citations in the biomedical literature:

Naxos disease		Bruck syndrome
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - Osteogenesis imperfecta - congenital joint contractures

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		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: 1 OMIM reference - 1 MeSH reference: C538346		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Naxos disease		Bruck syndrome
	Very frequent - Abnormal hair texture / hair dysplasia - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Arthrogryposis - 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