Rare Diseases and Conditions

Our resource section provides information on various conditions to help educate carriers of the disease as well as caretakers.

Acromegaly

Adenosine Deaminase (ADA) Deficiency

Alveolar Capillary Dysplasia

Amyloidosis

Amyotrophic Lateral Sclerosis

Ankylosing Spondylitis (AS)

Aplastic Anemia

Arginase Deficiency Disorder

Atypical Hemolytic Uremic Syndrome

Behçet’s Disease

Bronchopulmonary Dysplasia

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase 2 Deficiency

Castleman’s Disease

Central Precocious Puberty

Char Syndrome

Chang Davidson Carlson Syndrome

Chronic Lyme Disease

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

Common Variable Immunodeficiency (CVID)

Congenital Disorder of Glycosylation Type 1a (CDG-1a)

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)

Complex Regional Pain Syndrome

Cushing Disease

Cystic Fibrosis (CF)

Cystinosis

Devic’s Syndrome

Dopamine Beta-Hydroxylase (DβH) Deficiency

Dravet Syndrome

Dystonia

Duchenne Muscular Dystrophy (DMD)

Ehlers Danlos Syndrome (EDS)

Eisenmenger Syndrome

Epidermolysis Bullosa

Fabry Disease

Factor XIII Deficiency

Familial Hypercholesterolemia (FH)

Familial Mediterranean Fever

Familial Isolated Hyperparathyroidism

Fibrinogen Deficient Patients

Friedreich’s’s Ataxia (FRDA)

Gastroschisis

Gaucher Disease

Glanzmann’s Thrombasthenia

GLUT1 DS

Glomerulonephritis

Gorlin Chaudhry Moss Syndrome (GCM)

Hemiplegia

Hemophilia A

Hemophilia B

Hereditary Angioedema (HAE)

Homocystinuria

Huntington’s Disease

Hyperkalemic Periodic Paralysis (HyperKPP)

Hypereosinophilic Syndrome

Hyperphenylalaninemia

Hypoprothrombinemia

Idiopathic Thrombocytopenic Purpura

Idiopathic Pulmonary Fibrosis

Juvenile Idiopathic Arthritis

Kallmann Syndrome

Lambert-Eaton Myasthenic Syndrome

Laron Syndrome

Lennox Gastaut Syndrome

Lou Gehrig’s Disease

Mastocytosis

Maroteaux Lamy Syndrome

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria, type cblD

Microscopic Polyangiitis (MPA)

Morquio Syndrome

Mucopolysacchardosis VI (MPS VI)

Multiple System Atrophy (MSA)

Multiple Sclerosis (MS)

Myasthenia Gravis

Mycosis Fungoides

Myelodysplastic Syndromes

N-Acetylglutamate Synthetase Deficiency (NAGS)

N-glycanase (NGLY 1) Deficiency

Narcolepsy

Neonatal Respiratory Distress Syndrome

Non-24 Sleep-Wake Disorder

Nonalcoholic Steatohepatitis

Orotic Aciduria Type 1

Panuveitis

Paroxysmal Nocturnal Hemoglobinuria

Pediatric Ulcerative Colitis

Polycythemia Vera (PCV)

Phenylketonuria (PKU)

Pompe Disease

Postural Tachycardia Syndrome (POTS)

Primary Biliary Cholangitis (PBC)

Primary Carnitine Deficiency

Primary Immune Deficiency Diseases

Primary Myelofibrosis

Primary Pulmonary Hypertension (PPH)

Primary Sclerosing Cholangitis

Protein C Deficiency

Pulmonary Arterial Hypertension

ROHHAD

Sarcoidosis

Short Bowel Syndrome (SBS)

Sickle Cell Anemia

Sjögren’s Syndrome

Spinal Muscular Atrophy (SMA)

Status Epilepticus

Thrombocytopenia

Tourette Syndrome

Transverse Myelitis

Trigeminal Neuralgia (TN)

Tyrosinemia TYR

Urea Cycle Disorders

von Willebrand disease (vWD)

Waldenstrom Macroglobulinemia (WM)

Wilson Disease

Zellweger Spectrum Syndromes