Top10 disease by specialty

neurology

Disease	Est US prevalence	Inheritance	Age of onset
Narcolepsy	146,000 – 200,000
Idiopathic hypersomnia	104,280 – 130,000
Charcot-Marie-Tooth disease	82,250 – 125,000
Myasthenia-Gravis	48,000 – 60,000
Young onset parkinson’s disease	40,000 – 50,000
Lennox-Gastaut syndrome	30,000 – 45,000
Tuberous sclerosis	27,000 – 37,500
Huntington disease	21,450 – 30,000
Progressive supranuclear palsy	21,000 – 45,870
Amyotrophic lateral sclerosis	15,000 – 17,500

neurology

Disease	Est US Prevalence	Inheritance	Age of onset
Narcolepsy	146,000-200,000
Idiopathic hypersomnia	104,280-130,000
Charcot-Marie-Tooth disease	82,250-125,000
Myasthenia-Gravis	36,000-60,000
Autosomal recessive juvenile Parkinson disease	40,000-50,000
Lennox-Gastaut syndrome	30,000-45,000
Tuberous sclerosis Complex	27,000 – 37,500
Huntington's disease	21,450-30,000
Progressive supranuclear palsy	21,000-45,870
Amyotrophic lateral sclerosis	15,000-17,500
Porphyrias

immunology

Disease	Est US Prevalence	Inheritance	Age of onset
Systemic lupus erythematosus	161,000-322,000
Sjogren's syndrome	140,000-374,000
Uveitis	100,000-135,000
Autoimmune hepatitis	85,000-102,500
Scleroderma	75,000-85,000
Evans syndrome	55,620-82,500
Bullous pemphigoid	35,000-50,000
Lupus nephritis	66,500-124,000
Autoimmune hemolytic anemia	56,100-70,000
Polymyositis	16,000-42,000
Others - Not Top 10
Granulomatosis with Polyangiitis (Wegener's)	9,200-30,000
Hereditary angioedema	6,000-8,000
Guillain-Barre syndrome	4,000-10,000
Granulomatosis with polyangiitis (Churg-Strauss)	4,000-8,000

dermatology

Disease	Est US Prevalence	Inheritance	Age of onset
Bullous pemphigoid	83,000-160,000
Alopecia universalis	90,000-150,000
Alpha-1 Antitrypsin Deficiency (typically panniculitis)	60,000-100,000
Hereditary hemorrhagic telangiectasia	52,800-60,000
Ehlers-Danlos syndrome	41,250-50,000
Lofgren's syndrome	33,000-68,000
Oculocutaneous albinism	19,400-30,000
Pemphigus	17,160-30,000
Morgellon's disease	12,000-33,000
Dermatofibrosarcoma protuberans	3,500-30,000

gastroenterology

Disease	Est US Prevalence	Inheritance	Age of onset
Alpha-1 antitrypsin deficiency	60,000-100,000
Eosinophilic gastroenteritis	32,000-182,500
Primary biliary cholangitis (PBC)	30,000-132,500
Cystic fibrosis	30,000-35,000
Achalasia	26,400-33,000
Hirschsprung disease	18,540-36,200
Gardner syndrome	18,000-30,300
Primary sclerotic cholangitis (PSC)	15,800-53,400
Wilson's disease	6,000-10,000
Hereditary angioedema	3,000-6,000

immunology

Disease	Est US Prevalence	Inheritance	Age of onset
Systemic lupus erythematosus	161,000-322,000
Sjogren's syndrome	140,000-374,000
Uveitis	100,000-135,000
Autoimmune hepatitis	85,000-102,500
Scleroderma	75,000-85,000
Evans syndrome	55,620-82,500
Bullous pemphigoid	35,000-50,000
Lupus nephritis	66,500-124,000
Autoimmune hemolytic anemia	56,100-70,000
Polymyositis	16,000-42,000
Others - Not Top 10
Granulomatosis with Polyangiitis (Wegener's)	9,200-30,000
Hereditary angioedema	6,000-8,000
Guillain-Barre syndrome	4,000-10,000
Granulomatosis with polyangiitis (Churg-Strauss)	4,000-8,000

nephrology

Disease	Est US Prevalence	Inheritance	Age of onset
Renal dysplasia	140,000-180,000
Autosomal dominant polycystic kidney disease (ADPKD)	90,000-150,000
IgA nephropathy	52,800-102300
Membranoproliferative glomerulonephritis	52,800-76,000
FSGS	40,000-50,000
Minimal change diease (MCD)	33,000-120,000
Alport syndrome	30,000-60,000
Cystinuria	30,000-50,000
Fabry disease	6,000-50,000
Membranous nephropathy	3300-4000

pulmonology

Disease	Est US Prevalence	Inheritance	Age of onset
Sarcoidosis	66,000-158,600
Chronic thromboembolic pulmonary hypertension	20,970-82,000
Granulomatosis with Polyangiitis (Wegener's)	9,200-30,000
Granulomatosis with polyangiitis (Churg-Strauss)	3,630-8,000
Idiopathic pulmonary fibrosis (IPF)	62,000-140,100
Behcet's disease	9,000-17,200
Alpha-1 Antitrypsin Deficiency	60,000-100,000
Cystic fibrosis	30,000-35,000
Pulmonary arterial hypertension (PAH)	8,900-52,800
Idiopathic Interstitial pneumonias	60,000-125,000
Tuberculosis	8,580-34,970
Pulmonary Alveolar Proteinosis (PAP) Syndrome
Lymphangioleiomyomatosis (LAM)
Birt-Hogg-Dubé syndrome (BHD)
Pulmonary Langerhans cell histiocytosis (PLCH)
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)
Pulmonary alveolar microlithiasis (PAM)
Lymphangiomatosis or generalized lymphatic anomaly (GLA-now the preferred name)

hematology

Disease	Est US Prevalence	Inheritance	Age of onset
Diffuse B-cell lymphoma	141,900 (annual incidence 18,000)
Follicular lymphoma	122,100 (annual incidence 8,900)
Essential thrombocythemia	71000-90,000
Polycythemia vera	65,000-81,000
Immune thrombocytopenic purpura	41,580-77,880
Buerger disease	41,500-66,000
Hereditary hemorrhagic telangiectasia	30,000-60000
Hemophilia A	22,100-33000
AL Amyloidosis	14,000-19000
Von Willebrand disease (Symptomatic)	7600-37,300