Malattie con rilevante componente genetica |
Organi / sistemi coinvolti |
Sangue e linfa |
|
|
|
|
|
|
|
|
|
|
|
|
Tumori |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Digestione |
|
|
|
|
|
|
|
|
|
|
|
|
|
Orecchie, Naso, Gola |
|
|
|
|
|
|
|
|
Occhio |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Specifico di donne |
|
|
|
|
|
|
|
|
|
|
Ghiandole & ormoni |
|
|
|
|
|
|
|
|
Cuore e vasi |
|
|
|
|
|
|
|
|
|
|
|
|
Immunitario |
|
|
|
|
|
|
|
|
|
|
|
|
Specifico di uomini |
|
|
|
|
|
|
|
|
|
|
Muscoli & ossa |
|
|
|
|
|
|
|
|
|
|
|
Neonati |
|
|
|
|
|
|
|
|
|
|
|
|
|
Nervoso |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Nutrizione & metabolismo |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Respirazione |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Derma & connettivo |
Adrenoleukodystrophy |
|
|
|
|
|
|
x |
|
|
|
|
|
x |
x |
|
|
|
Alzheimer Disease |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Amyotrophic Lateral Sclerosis |
|
|
|
|
|
|
|
|
|
|
x |
|
x |
|
|
|
|
Angelman Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Asthma |
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
x |
|
|
Ataxia Telangiectasia |
|
|
|
|
|
|
|
x |
x |
|
|
|
x |
|
|
|
|
Atherosclerosis |
|
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
|
|
Autoimmune Polyglandular Syndrome |
|
|
|
|
|
|
x |
|
x |
|
|
|
|
|
|
|
|
Best Disease |
|
|
|
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
Breast and Ovarian Cancer |
|
x |
|
|
|
x |
x |
|
|
|
|
|
|
|
|
|
|
Burkitt Lymphoma |
x |
x |
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
|
Charcot–Marie–Tooth Syndrome |
|
|
|
|
|
|
|
|
|
|
x |
x |
x |
|
|
|
|
Chronic Myeloid Leukemia |
x |
x |
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
|
Cockayne Syndrome |
|
|
|
|
|
|
x |
|
|
|
x |
x |
x |
|
|
|
|
Colon Cancer |
|
x |
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Crohn's Disease |
|
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Cystic Fibrosis |
|
|
x |
|
|
|
|
|
|
|
|
x |
|
|
x |
|
|
Deafness |
|
|
|
x |
|
|
|
|
|
|
|
|
x |
|
|
|
|
Diastrophic Dysplasia |
|
|
|
|
|
|
x |
|
|
|
x |
x |
|
|
|
x |
|
DiGeorge Syndrome |
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
|
Duchenne Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
|
x |
x |
x |
|
|
|
|
Ellis-van Creveld Syndrome |
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
x |
|
Epilepsy |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Essential Tremor |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Familial Mediterranean Fever |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Fragile X Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Friedreich's Ataxia |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Gaucher Disease |
x |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
Glaucoma |
|
|
|
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
Glucose Galactose Malabsorption |
|
|
x |
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
Gyrate Atrophy of the Choroid and Retina |
|
|
|
|
x |
|
|
|
|
|
|
x |
|
|
|
|
|
Harvey Ras Oncogene |
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Hemophilia A |
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Huntington disease |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Immunodeficiency with Hyper-IgM |
|
|
|
|
|
|
|
|
x |
|
|
x |
|
|
|
|
|
Juvenile Onset Diabetes |
|
|
x |
|
|
|
x |
|
x |
|
|
|
|
x |
|
|
|
Long QT Syndrome |
|
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
|
|
Male Pattern Baldness |
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
x |
|
Malignant Melanoma |
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
Marfan Syndrome |
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
x |
|
Menkes Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
x |
|
x |
|
Multiple Endocrine Neoplasia |
|
x |
|
|
|
|
x |
|
|
|
|
x |
|
|
|
|
|
Myotonic Dystrophy |
|
|
|
|
|
|
|
|
|
|
x |
|
x |
|
|
|
|
Neurofibromatosis |
|
x |
|
x |
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Niemann–Pick Disease |
x |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
Obesity |
|
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
Pancreatic Cancer |
|
x |
x |
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
Parkinson Disease |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Paroxysmal Nocturnal Hemoglobinuria |
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Pendred Syndrome |
|
|
|
x |
|
|
x |
|
|
|
|
|
|
|
|
|
|
Phenylketonuria |
|
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
Polycystic Kidney Disease |
|
x |
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
Prader-Willi Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
x |
|
|
|
Prostate Cancer |
|
x |
|
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
Refsum Disease |
|
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
Retinoblastoma |
|
x |
|
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
Rett Syndrome |
|
|
|
|
|
x |
|
|
|
|
|
x |
x |
|
|
|
|
Severe Combined Immunodeficiency |
|
|
|
|
|
|
|
|
x |
|
|
x |
|
|
|
|
|
Sickle Cell Anemia |
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Small Cell Lung Carcinoma |
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
Spinal Muscular Atrophy |
|
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
Spinocerebellar Ataxia |
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
SRY: Sex Determination |
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
|
|
Tangier Disease |
|
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
Tay-Sachs Disease |
|
|
|
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
The p53 Tumor Suppressor Protein |
|
x |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Tuberous Sclerosis |
|
x |
|
|
|
|
|
|
|
|
|
x |
x |
|
|
|
|
Von Hippel-Lindau Syndrome |
|
x |
|
|
|
|
|
x |
|
|
|
|
x |
|
|
|
|
Waardenburg Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
Werner Syndrome |
|
|
|
|
|
|
|
|
|
|
|
x |
|
|
|
|
|
Williams Syndrome |
|
|
|
|
|
|
|
x |
|
|
|
x |
x |
|
|
|
|
Wilson's Disease |
|
|
x |
|
|
|
|
|
|
|
|
x |
x |
x |
|
|
|
Zellweger Syndrome |
|
|
x |
|
|
|
|
|
|
|
|
x |
x |
x |
|
|
|