Rare Medical News

Top10 disease by specialty

cardiology

DiseaseEstimated US PrevalenceOnset Image
Dilated cardiomyopathy120,450-200,000
Brugada syndrome16,500-66,000
Kawasaki's disease25,000-80,000
Hyperlipidemia type 330,000-60,000
Buerger disease41,500-66,000
Long QT syndrome48,000-132,000
Wild type ATTR amyloidosis52,400-63,500
Arrhythmogenic right ventricular cardiomyopathy60,000-150,000
Primary systemic vasculitis66,000-100,000
Pulmonary arterial hypertension (PAH)8,900-52,800

endocrinology
Disease Est US prevalenceAge of onset
Hartnup disease10,000-12,800
Central diabetes insipidus10,000-13,000
Prader-Willi syndrome10,000-15,000
Cushing's disease13,200-19,700
Phenylketonuria19,800-33,000
Acromegaly23,400-27,500
Pheochromocytoma25,000-125,000
Hyperlipidemia type 3 30,000-66,000
Addison's disease33,000-46,000
Familial hypocalciuric hypercalcemia4,500-18,000
Wilson disease8,000-10,000

infectious diseases
Disease
Estimated US prevalenceAge of onset
Note: Incidence, not Prevalance
N/A 115,045
N/A 60,999
Lyme disease 33,666
Shigellosis 16,333
Pertussis (whooping cough) 15,609
N/A 12,474
N/A 9,025
Haemophilus influenzae, invasive 5,573
Spotted fever rickettsiosis 5,544
N/A 4,768

oncology
Disease Est US IncidenceAge of onsetPrevalence
Transitional cell bladder carcinoma83,730723,745
Renal cell carcinoma76,080582,727
Pancreatic carcinoma60,43083,777
Ovarian cancer21,410
Diffuse B cell lymphoma/a>18,480
Soft tissue sacrcoma13,460157,855
Chronic lymphocytic leukemia12,870
Neuroendocrine tumors12,000175,000
Follilucular lymphoma8,910
Gastrointestinal stromal tumor478542,750

ophthalmology
Disease
Estimated US prevalenceAge of onset
Bietti's Crystalline Dystrophy4,950
Idiopathic Intracranial Hypertension6,600
Batten disease13,200
Best disease (vitelliform macular dystrophy)19,800
Retinoblastoma19,800
Usher syndrome23,100
Neuromyelitis optica (Devic disease)34,650
Stargardt Disease39,600
Retinitis Pigmentosa82,500
Uveitis100,000-135,000
Coloboma33000-40,000
Anophthalmia and Microphthalmia33000-40,000
Behçet's Disease9,000-17,200

rheumatology
Disease
Estimated US PrevalenceOnset Image
Uveitis/a>100,000-135,000
Sjogren's syndrome140,000-374,000
Polymyositis16,000-42,000
Systemic lupus erythematosus161,000-322,000
Bullous pemphigoid35,000-50,000
Lupus nephritis66,500-124,000
Scleroderma75,000-85,000
Behcet's disease9,000-17,200

neurology
DiseaseEst US prevalenceInheritanceAge of onset
Narcolepsy146,000-200,000
Idiopathic hypersomnia104,280-130,000
Charcot-Marie-Tooth disease82,250-125,000


Myasthenia-Gravis36,000-60,000
Autosomal recessive juvenile Parkinson disease40,000-50,000
Lennox-Gastaut syndrome30,000-45,000
Tuberous sclerosis Complex27,000 – 37,500
Huntington's disease21,450-30,000
Progressive supranuclear palsy21,000-45,870
Amyotrophic lateral sclerosis15,000-17,500
Porphyrias

immunology
DiseaseEst US PrevalenceInheritanceAge of onset
Systemic lupus erythematosus161,000-322,000
Sjogren's syndrome140,000-374,000
Uveitis100,000-135,000
Autoimmune hepatitis85,000-102,500
Scleroderma75,000-85,000
Evans syndrome55,620-82,500
Bullous pemphigoid35,000-50,000
Lupus nephritis66,500-124,000
Autoimmune hemolytic anemia56,100-70,000
Polymyositis16,000-42,000
Others - Not Top 10
Granulomatosis with Polyangiitis (Wegener's)9,200-30,000
Hereditary angioedema6,000-8,000
Guillain-Barre syndrome4,000-10,000
Granulomatosis with polyangiitis (Churg-Strauss)4,000-8,000

dermatology
DiseaseEst US PrevalenceInheritanceAge of onset
Bullous pemphigoid83,000-160,000
Alopecia universalis90,000-150,000
Alpha-1 Antitrypsin Deficiency (typically panniculitis)60,000-100,000
Hereditary hemorrhagic telangiectasia52,800-60,000
Ehlers-Danlos syndrome41,250-50,000

Lofgren's syndrome33,000-68,000
Oculocutaneous albinism19,400-30,000
Pemphigus17,160-30,000
Morgellon's disease12,000-33,000
Dermatofibrosarcoma protuberans3,500-30,000

gastroenterology
DiseaseEst US PrevalenceInheritanceAge of onset
Alpha-1 antitrypsin deficiency60,000-100,000
Eosinophilic gastroenteritis32,000-182,500
Primary biliary cholangitis (PBC)30,000-132,500
Cystic fibrosis30,000-35,000
Achalasia26,400-33,000
Hirschsprung disease18,540-36,200


Gardner syndrome18,000-30,300
Primary sclerotic cholangitis (PSC)15,800-53,400
Wilson's disease6,000-10,000
Hereditary angioedema3,000-6,000

nephrology
DiseaseEst US prevalenceInheritanceAge of onset
Renal dysplasia140,000-180,000
Autosomal dominant polycystic kidney disease (ADPKD)90,000-150,000
IgA nephropathy52,800-102300
Membranoproliferative glomerulonephritis52,800-76,000
FSGS40,000-50,000
Minimal change diease (MCD)33,000-120,000
Alport syndrome30,000-60,000

Cystinuria30,000-50,000
Fabry disease6,000-50,000
Membranous nephropathy3300-4000

pulmonology
DiseaseEst US PrevalenceInheritanceAge of onset
Sarcoidosis 66,000-158,600
Chronic thromboembolic pulmonary hypertension20,970-82,000
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 disease9,000-17,200
Alpha-1 Antitrypsin Deficiency60,000-100,000
Cystic fibrosis30,000-35,000
Pulmonary arterial hypertension (PAH)8,900-52,800
Idiopathic Interstitial pneumonias60,000-125,000
Tuberculosis8,580-34,970
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
DiseaseEst US PrevalenceInheritanceAge of onset
Diffuse B-cell lymphoma141,900 (annual incidence 18,000)
Follicular lymphoma122,100 (annual incidence 8,900)
Essential thrombocythemia71000-90,000
Polycythemia vera65,000-81,000
Immune thrombocytopenic purpura41,580-77,880
Buerger disease41,500-66,000
Hereditary hemorrhagic telangiectasia30,000-60000
Hemophilia A22,100-33000
AL Amyloidosis14,000-19000
Von Willebrand disease (Symptomatic)7600-37,300

psychiatry
Disease Estimated US prevalenceAge of onset
Rumination disorders176,000-350,000
150,000-332,000
Narcolepsy146,000-200,000
135,000-200,000
132,000-260,000
Idiopathic hypersomnia104,280-130,000
Conversion Disorder36,300-500,000
36,000-60,000
Tardive dyskinesia21,000–30,000
16,000-36,000