Catecholaminergic polymorphic ventricular tachycardia |
Proteus syndrome |
CALM1 | AKT1 | |||
CASQ2 | PTEN | |||
RYR2 | ||||
TRDN |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
CALM1 | (0.68) | AKT1 | |
Citations in the biomedical literature:
Catecholaminergic polymorphic ventricular tachycardia |
Proteus syndrome |
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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 | Synonym(s): - Partial gigantism - nevi - hemihypertrophy - macrocephaly | ||
Classification (Orphanet): - Rare cardiac disease - Rare genetic disease | Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare skin disease | ||
Classification (ICD10): - Diseases of the circulatory system -
| Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
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Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant | Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic | ||
External references: 5 OMIM references -
No MeSH references | External references: 1 OMIM reference - 1 MeSH reference: D016715 | ||
COMMON SIGNS |
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest |
Catecholaminergic polymorphic ventricular tachycardia |
Proteus syndrome |
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Very frequent - Cardiac rhythm disorder / arrhythmia Frequent - Dizziness | Very frequent - Abnormal fat distribution / lipodystrophy - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal vertebral size / shape - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetric rib cage / thorax - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Follicular / erythematous / edematous papules / milium - Irregular / in bands / reticular skin hyperpigmentation - Kyphosis - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lymphangioma / lymphatic malformations - Macrodactyly / fingers hypertrophy / megalodactyly (hand) - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pigmented naevi / naevus pigmentosus / lentigo - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling - Tall stature / gigantism / growth acceleration - Thick skin / pachydermia / orange skin - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Vascular anomalies of skin / mucosae - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Xanthomas / lipomas Frequent - Bronchogenic cyst - Cafe-au-lait spot - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Dolichocephaly / scaphocephaly - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hyperostosis - Hypertelorism - Lymphedema - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pulmonary thromboembolism - Syndactyly of fingers / interdigital palm - Visceral angiomatosis (excluding skin) Occasional - Abnormal / polycystic ovaries - Anodontia / oligodontia / hypodontia - Anomalies of the neck - Anteverted nares / nostrils - Arterial embolism / thrombosis - Buphthalmos - Cataract / lens opacification - Clinodactyly of fifth finger - Congenital cardiac anomaly / malformation / cardiopathy - Craniostenosis / craniosynostosis / sutural synostosis - Depressed nasal bridge - Diffuse / generalised skin hyperpigmentation / melanoderma - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Exostoses - External auditory canal atresia / stenosis / agenesis - Flared / thick ala nasi - Follicular / conjunctival hamartomas - Glaucoma - Hallux valgus - Heterochromia / mixed colouring of iris - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hirsutism / hypertrichosis / Increased body hair - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Long face - Low set ears / posteriorly rotated ears - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Macroorchidism / macrotestes - Macropenis / megapenis / large penis - Meningioma - Multiple caries - Myopathy - Myopia - Nails anomalies - Oropharyngeal neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Proptosis / exophthalmos - Ptosis - Renal cyst (single) - Restricted joint mobility / joint stiffness / ankylosis - Retinal detachment - Retinal hamartoma - Retinitis pigmentosa / retinal pigmentary changes - Retinoschisis / retinal / chorioretinal coloboma - Seizures / epilepsy / absences / spasms / status epilepticus - Sirenomelia / mermaid / lower limb fusion - Splenomegaly - Strabismus / squint - Structural and functional anomalies of the spleen - Talipes-valgus - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Thymic hyperplasia - Thymus / thymic neoplasm / tumor / carcinoma / cancer / thymoma - Venous thrombosis / phlebitis / thrombophlebitis - Wrist / carpal anomalies |