Malattie con rilevante componente genetica:
organi e sistemi coinvolti

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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