Rare Hematology News

Top10 disease by specialty

neurology

DiseaseEst US prevalenceInheritanceAge of onset
Narcolepsy146,000 – 200,000
Idiopathic hypersomnia104,280 – 130,000
Charcot-Marie-Tooth disease82,250 – 125,000
Myasthenia-Gravis48,000 – 60,000
Young onset parkinson’s disease40,000 – 50,000
Lennox-Gastaut syndrome30,000 – 45,000
Tuberous sclerosis27,000 – 37,500
Huntington disease21,450 – 30,000
Progressive supranuclear palsy21,000 – 45,870
Amyotrophic lateral sclerosis15,000 – 17,500

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

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

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/ConditionEstimated US PrevalenceInheritanceInheritance ImageOnsetOnset ImageSourcesNotesDisease Page
Rumination disorders176,000-350,000N/AChildhoodMultiplehttps://www.raremedicalnews.com/rarediseases/rumination-disorder/
Factitious disorders150,000-332,000UnknownAll
Narcolepsy146,000-200,000N/AAllJCSM Articlehttps://www.raremedicalnews.com/rarediseases/narcolepsy/
Tourette's sundrome135,000-200,000SuspectedChildhoodCDChttps://www.raremedicalnews.com/rarediseases/tourette-syndrome/
Cyclothymic disorder132,000-260,000UnknownMultiple
Idiopathic hypersomnia104,280-130,000N/AAdolescenceJCSM Articlehttps://www.raremedicalnews.com/rarediseases/idiopathic-hypersomnia/
Conversion Disorder36,300-500,000N/AAllhttps://www.raremedicalnews.com/rarediseases/conversion-disorder/
Diogenes syndrome36,000-60,000N/AUnknownPsychiatry Online
Tardive dyskinesia21,000–30,000N/AUnknownMovement Disorder Societyhttps://www.raremedicalnews.com/rarediseases/tardive-dyskinesia/
Capgras syndrome16,000-36,000UnknownUnknown