Genes and Diseases

Genes and Diseases

Blood and Lymph diseases:

• Anemia, sickle cell
• Burkitt lymphoma
• Gaucher disease
• Hemophilia A
• Leukemia, chronic myeloid
• Niemann-Pick disease
• Paroxysmal nocturnal hemoglobinuria
• Porphyria
• Thalassemia

Cancer

• Breast and ovarian cancer
• Burkitt lymphoma
• Colon cancer
• Leukemia, chronic myeloid
• Lung carcinoma, small cell
• Malignant melanoma
• Multiple endocrine neoplasia
• Neurofibromatosis
• The p53 tumor suppressor protein
• Pancreatic cancer
• Polycystic kidney disease
• Prostate cancer
• Harvey Ras oncogene
• Retinoblastoma
• Tuberous sclerosis
• Von Hippel-Lindau syndrome

Digestive system

• Colon cancer
• Crohn's disease
• Cystic fibrosis
• Diabetes, type 1
• Glucose galactose malabsorption
• Pancreatic cancer
• Wilson's disease
• Zellweger syndrome
• 
  

Ear, Nose and Throat

• Deafness
• Neurofibromatosis
• Pendred syndrome

Eye

• Best disease
• Glaucoma
• Gyrate atrophy of the choroid and retina
• Retinoblastoma

Female-Specific Diseases

• Breast and ovarian cancer
• Rett syndrome

Glands and Hormones

• Adrenal hyperplasia, congenital
• Adrenoleukodystrophy
• Autoimmune polyglandular syndrome
• Breast and ovarian cancer
• Cockayne syndrome
• Diabetes, type 1
• Diastrophic dysplasia
• Multiple endocrine neoplasia
• Pendred syndrome

Heart and Blood vessels

• Ataxia telangiectasia
• Atherosclerosis
• Long QT syndrome
• Von Hippel-Lindau syndrome
• Williams syndrome

Immune System

• Asthma
• Ataxia telangiectasia
• Autoimmune polyglandular syndrome
• Burkitt lymphoma
• Diabetes, type 1
• DiGeorge syndrome
• Familial Mediterranean fever
• Immunodeficiency with hyper-IgM
• Leukemia, chronic myeloid
• Severe combined immunodeficiency

Male-Specific Diseases

• Alport syndrome
• Male pattern baldness
• Prostate cancer
• SRY: Sex determination

Muscle and Bone

• Achondroplasia
• Amyotrophic lateral sclerosis
• Charcot-Marie-Tooth syndrome
• Cockayne syndrome
• Diastrophic dysplasia
• Duchenne muscular dystrophy
• Ellis-van Creveld syndrome
• Fibrodysplasia ossificans progressiva
• Marfan syndrome
• Myotonic dystrophy

Neonatal Disease

• Achondroplasia
• Angelman syndrome
• Cockayne syndrome
• Cystic fibrosis
• DiGeorge syndrome
• Fragile X syndrome
• Marfan syndrome
• Prader-Willi syndrome
• Severe combined immunodeficiency
• Waardenburg syndrome
• Werner syndrome
• Williams syndrome
• Zellweger syndrome

Nervous system

• Adrenoleukodystrophy
• Alzheimer disease
• Amyotrophic lateral sclerosis
• Angelman syndrome
• Ataxia telangiectasia
• Charcot-Marie-Tooth syndrome
• Cockayne syndrome
• Deafness
• Duchenne muscular dystrophy
• Epilepsy
• Essential tremor
• Fragile X syndrome
• Friedreich's ataxia
• Gaucher disease
• Huntington disease
• Lesch-Nyhan syndrome
• Maple syrup urine disease
• Menkes syndrome
• Myotonic dystrophy
• Narcolepsy
• Neurofibromatosis
• Niemann-Pick disease
• Parkinson disease
• Phenylketonuria
• Prader-Willi syndrome
• Refsum disease
• Rett syndrome
• Spinal muscular atrophy
• Spinocerebellar ataxia
• Tangier disease
• Tay-Sachs disease
• Tuberous sclerosis
• Von Hippel-Lindau syndrome
• Williams syndrome
• Wilson's disease
• Zellweger syndrome

Nutritional and Metabolic Diseases

• Adrenoleukodystrophy
• Diabetes, type 1
• Gaucher disease
• Glucose galactose malabsorption
• Hereditary hemochromatosis
• Lesch-Nyhan syndrome
• Maple syrup urine disease
• Menkes syndrome
• Niemann-Pick disease
• Obesity
• Pancreatic cancer
• Phenylketonuria
• Prader-Willi syndrome
• Porphyria
• Refsum disease
• Tangier disease
• Tay-Sachs disease
• Wilson's disease
• Zellweger syndrome
• 
  

Respiratory disease

• Alpha-1-antitrypsin deficiency
• Asthma
• Cystic fibrosis
• Lung carcinoma, small cell

Skin and Connective Tissue

• Male pattern baldness
• Diastrophic dysplasia
• Ellis-van Creveld syndrome
• Marfan syndrome
• Malignant melanoma
• Menkes syndrome
• Porphyria