ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

5 OMIM references -
4 associated genes
3 signs/symptoms

Craniometaphyseal dysplasia

Catecholaminergic polymorphic ventricular tachycardia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	CALM1

Citations in the biomedical literature:

Craniometaphyseal dysplasia		Catecholaminergic polymorphic ventricular tachycardia
	Synonym(s): - CMD		Synonym(s): - Bidirectional tachycardia - Bidirectional tachycardia induced by catecholamine - CPVT - Double tachycardia induced by catecholamines - Malignant paroxysmal ventricular tachycardia - Multifocal ventricular premature beats - Paroxysmal ventricular fibrillation - Syncopal paroxysmal tachycardia - Syncopal tachyarythmia

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 5 OMIM references - No MeSH references

Craniometaphyseal dysplasia		Catecholaminergic polymorphic ventricular tachycardia
	Very frequent - Autosomal dominant inheritance - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia		Very frequent - Cardiac rhythm disorder / arrhythmia Frequent - Dizziness Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest