ODCs

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1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1

5 OMIM references -
4 associated genes
3 signs/symptoms

Cabezas syndrome

Catecholaminergic polymorphic ventricular tachycardia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL4B	(0.63)	CALM1

Citations in the biomedical literature:

Cabezas syndrome		Catecholaminergic polymorphic ventricular tachycardia
	Synonym(s): - X-linked intellectual deficit, Cabezas type		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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease

	Classification (ICD10): (no data available)		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: x-linked recessive		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: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references

Cabezas syndrome		Catecholaminergic polymorphic ventricular tachycardia
	Very frequent - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal gait - Blepharophimosis / short palpebral fissures - Everted lower lip - Generalized obesity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pes cavus - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short stature / dwarfism / nanism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tremor - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Occasional - Acanthosis nigricans - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Syndactyly of toes		Very frequent - Cardiac rhythm disorder / arrhythmia Frequent - Dizziness Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest