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Details of JUP gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of diffuse non- epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
601214 |
Familial arrhythmogenic right ventricular dysplasia 12 (ARVD12) [MIM:611528]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations affecting the gene represented in this entry. |
611528 |
Phenotypes
Abnormality of cardiovascular system physiology, Abnormality of hair texture, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of the cardiovascular system, Abnormality of the hair, Abnormality of the heart, Abnormality of the integument, Abnormality of the myocardium, Abnormality of the skin, All, Arrhythmia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cardiomegaly, Cardiomyopathy, Curly hair, Death, Dilated cardiomyopathy, Epidermal thickening, Episodes of ventricular tachycardia, Generalized abnormality of skin, Heterogeneous, Hyperkeratosis, Malformation of the heart and great vessels, Mode of inheritance, Onset and clinical course, Palmoplantar keratoderma, Phenotypic abnormality, Sudden death, Syncope, Tachycardia, Thickened skin, Ventricular arrhythmia, Ventricular tachycardia, Woolly hair.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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