Rare Diseases and Conditions

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

Acromegaly

Addison’s Disease

Adenosine Deaminase (ADA) Deficiency

Albinism

Allan-Herndon-Dudley Syndrome (AHDS)

Alpha-1 Antitrypsin Deficiency (A1AD)

Alveolar Capillary Dysplasia

Amyloidosis

-Hereditary ATTR Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Andrenoleukodystrophy (ALD)

Angelman Syndrome

Ankylosing Spondylitis (AS)

Aplastic Anemia

Arginase Deficiency Disorder

Atypical Hemolytic-Uremic Syndrome

Batten Disease (NCL)

Behçet’s Disease

Beta Thalassemia

-Beta Thalassemia Major

Bile Acid Synthesis Disorders (BASDs)

BRCA-mutated Breast Cancer

Bronchiectasis

Bronchopulmonary Dysplasia (BPD)

Carbamoyl Phosphate Synthetase 1 Deficiency

Carcinoid Syndrome

Carnitine Palmotoyltransferase II Deficiency

Castleman Disease

Central Precocious Puberty

Cerebral Palsy

Char Syndrome

Charcot-Marie-Tooth Disease (CMT)

Chang Davidson Carlson Syndrome

Choroidermia

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Chronic Kidney Disease (CKD)

Chronic Lyme Disease

Chronic Lymphocytic Leukemia (CLL)

Chronic Myelogenous Leukemia (CML)

Chudley Rozdilsky Syndrome

Churg-Strauss Syndrome

Citrullinemia Type 1

CLOVES Syndrome

Congenital Adrenal Hyperplasia (CAH)

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

Congenital Generalized Lipodystrophy (CGL)

Congenital Leptin Deficiency

Cryopyrin-Associated Autoinflammatory Syndromes (CAPS)

-Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

Complex Regional Pain Syndrome (CRPS)

Cushing Disease

Cutaneous T-cell Lymphomas (CTCLs)

Cystic Fibrosis (CF)

Cystinosis

Dermatomyositis

Devic’s Syndrome (Neuromyelitis Optica)

Diamond-Blackfan Anemia

Dopamine Beta-Hydroxylase (DβH) Deficiency

Dravet Syndrome

Dysautonomia

-Postural Orthostatic Tachycardia Syndrome (POTS)

Dystonia

Duchenne Muscular Dystrophy (DMD)

Ehlers-Danlos Syndrome (EDS)

Eisenmenger Syndrome

Eosinophilic Esophagitis

Epidermolysis Bullosa (EB)

Erdheim-Chester Disease (ECD)

Erythromelalgia

Fabry Disease

Factor XIII Deficiency

Familial Chylomicronemia Syndrome (FCS)

Familial Hypercholesterolemia (FH)

-Heterozygous Familial Hypercholesterolemia (HeFH)

Familial Isolated Hyperparathyroidism

Familial Mediterranean Fever

Familial Partial Lipodystrophy (FPL)

Fibrinogen Deficiency

Focal Segmental Glomerulosclerosis (FSGS)

Fragile X Syndrome (FXS)

Friedreich Ataxia (FRDA)

Gastroparesis

Gastroschisis

Gaucher Disease

Glanzmann Thrombasthenia

Glaucoma

Glioblastoma

Glomerulonephritis

GLUT1 (DS) Deficiency Syndrome

GNE Myopathy

Gorlin Chaudhry Moss Syndrome (GCM)

Graft-versus-Host Disease (GvHD)

Granulomatosis with Polyangiitis (GPA)

Growth Hormone Insensitivity with Immunodeficiency

Guillain-Barré Syndrome (GBS)

Guttate Psoriasis

Hemiplegia

Hemophilia A

Hemophilia B

Hepatic Porphyria

Hepatocellular Carcinoma

Hereditary Angioedema (HAE)

Homocystinuria

Huntington’s Disease

Hyperkalemia

Hyperkalemic Periodic Paralysis (HyperKPP)

Hypereosinophilic Syndrome (HES)

Hypernatremia

Hyperphenylalaninemia

Hypophosphatasia (HPP)

Hypopituitarism

Hypoplasminogenemia or Type 1 Plasminogen Deficiency

Hypoprothrombinemia

Ichthyosis

Idiopathic Hypersomnia

Idiopathic Thrombocytopenic Purpura (ITP)

Idiopathic Pulmonary Fibrosis (IPF)

Juvenile GM1 Gangliosidosis

Juvenile Idiopathic Arthritis (JIA)

Kallmann Syndrome (KS)

Kidney Stones

Klippel-Feil Syndrome (KFS)

Lambert-Eaton Myasthenic Syndrome (LEMS)

Laron Syndrome

Lennox-Gastaut Syndrome (LGS)

Leukodystrophy

Lipoprotein Lipase Deficiency (LPLD)

Lou Gehrig’s Disease

Lupus Nephritis

Lysosomal Acid Lipase Deficiency (LAL-D)

Marfan Syndrome

Mastocytosis

Membranoproliferative Glomerulonephritis (MPGN)

Membranous Nephropathy

Mesothelioma

Methylmalonic Acidemia with Homocystinuria

-Methylmalonic Acidemia With Homocystinuria, Type cblD

Microscopic Polyangiitis (MPA)

Minimal Change Disease

MPS II (Hunter Syndrome)

MPS III (Sanfilippo Syndrome)

MPS IV (Morquio Syndrome)

MPS VI (Maroteaux-Lamy Syndrome)

Multiple Myeloma

Multiple System Atrophy (MSA)

Multiple Sclerosis (MS)

Myasthenia Gravis

-Refractory Generalized Myasthenia Gravis (gMG)

Mycosis Fungoides

Myelodysplastic Syndromes (MDS)

Myositis

Myotonic Dystrophy

N-Acetylglutamate Synthetase Deficiency (NAGS)

N-Glycanase (NGLY 1) Deficiency

Narcolepsy (and Cataplexy)

Neonatal Respiratory Distress Syndrome (IRDS)

Neurogenic Orthostatic Hypotension (nOH)

Niemann-Pick Disease

Non-24 Sleep-Wake Disorder

Nonalcoholic Steatohepatitis (NASH)

Oculopharyngeal Muscular Dystrophy (OPMD)

Orotic Aciduria Type 1

Ovarian Cancer

Pantothenate Kinase-associated Neurodegeneration (PKAN)

Panuveitis

Parkinson’s Disease

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Pfeiffer Syndrome

Phenylketonuria (PKU)

Polycythemia Vera (PCV)

Polymyositis

Pompe Disease

Primary Biliary Cholangitis (PBC)

Primary Carnitine Deficiency

Primary Ciliary Dyskinesia (PCD)

Primary Hyperoxaluria Type 1 (PH1)

Primary Immune Deficiency Diseases

-Chronic Granulomatous Disease (CGD)

-Common Variable Immunodeficiency (CVID)

-Severe Combined Immunodeficiency (SCID)

Primary Myelofibrosis

Primary Pulmonary Hypertension (PPH)

Primary Sclerosing Cholangitis

Progeria

Progressive Familial Intrahepatic Cholestasis (PFIC)

Protein C Deficiency

Psoriatic Arthritis

Pulmonary Arterial Hypertension (PAH)

PURA Syndrome

Renal Cell Carcinoma

Rett Syndrome

Rheumatoid Arthritis (RA)

ROHHAD

RPE65-associated Leber Congenital Amaurosis (LCA)

Sarcoidosis

Schnitzler Syndrome

Scleroderma

Severe Acne

Severe Atopic Dermatitis

Short Bowel Syndrome (SBS)

Sickle Cell Anemia

Sjögren’s Syndrome

Smith-Magenis Syndrome (SMS)

Soft Tissue Sarcoma

Spinal Muscular Atrophy (SMA)

Spinocerebellar Ataxia (SCA)

Stargardt Disease

Status Epilepticus

Stiff Person Syndrome (SPS)

Tardive Dyskinesia (TD)

Tay-Sachs Disease

Thoracic Outlet Syndrome (TOS)

Thrombocytopenia

Tuberous Sclerosis Complex

Tourette Syndrome

Transverse Myelitis (TM)

Trigeminal Neuralgia (TN)

Tyrosinemia (TYR)

Ulcerative Colitis

-Pediatric Ulcerative Colitis

Urea Cycle Disorders

Von Willebrand disease (vWD)

Waldenstrom Macroglobulinemia (WM)

West Syndrome (Infantile Spasms)

Wilson Disease

Wiskott-Aldrich Syndrome

X-linked Hypophosphatemia (XLH)

Zellweger Spectrum Syndromes