Research survey for rare disease patients and their families about impacts of COVID‑19
The Rare Diseases Clinical Research Network (RDCRN) is conducting a study to help researchers understand the impacts of COVID-19 on the rare diseases community. This dashboard displays interim results from the study. It will be updated frequently. Learn more about this study or take the survey.
| Diagnosis | No. Patients |
|---|---|
| 22q13 Deletion syndrome; Phelan-McDermid Syndrome; SHANK3 deletion/mutation | 36 |
| ALG13 Congenital Disorder of Glycosylation | 2 |
| Acute Intermittent Porphyria | 12 |
| Adrenoleukodystrophy and Adrenomyeloneuropathy | 12 |
| Aicardi-Goutieres Syndrome | 6 |
| Alpers syndrome | 2 |
| Alpha-1 antitrypsin deficiency | 8 |
| Amyotrophic Lateral Sclerosis (ALS) | 189 |
| Amyotrophic Lateral Sclerosis-Frontotemporal Dementia (ALS-FTD) | 8 |
| Arginase Deficiency (Hyperargininemia) | 1 |
| Argininosuccinate Synthetase Deficiency (Citrullinemia) | 5 |
| Argininosuccinic Lyase Deficiency (Argininosuccinic Aciduria) | 7 |
| Autoimmune Pulmonary Alveolar Proteinosis (aPAP) | 19 |
| Batten disease | 1 |
| Behcet's Disease | 29 |
| Birt-Hogg-Dube Syndrome (BHD) | 1 |
| Blepharospasm | 1 |
| Brittle Bone Disorder | 1 |
| Bronchiectasis | 7 |
| CHARGE Syndrome | 4 |
| CPEO: Chronic Progressive External Ophthalmoplegia | 12 |
| Carbamyl Phosphate Synthetase (CPS) Deficiency | 1 |
| Carnitine acylcarcarnitine carnitine translocase (CACT) deficiency | 1 |
| Carnitine palmitoyltransferase 2 (CPT2) deficiency | 5 |
| Cerebral Cavernous Malformations (CCM) | 4 |
| Cervical Dystonia | 8 |
| Charcot Marie Tooth Disease CMT1A | 15 |
| Charcot Marie Tooth Disease CMT1B | 1 |
| Charcot Marie Tooth Disease CMT2A | 4 |
| Charcot Marie Tooth Disease CMT4 | 1 |
| Charcot Marie Tooth Disease CMT4J | 1 |
| Charcot Marie Tooth Disease CMTX | 3 |
| Chronic Granulomatous Disease | 7 |
| Citrullinemia II | 1 |
| Complex I Deficiency | 3 |
| Complex III Deficiency | 1 |
| Cystic Fibrosis | 78 |
| Cystinosis | 3 |
| Cytomegalovirus | 4 |
| Danon disease | 2 |
| Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH) | 1 |
| Duchenne muscular dystrophy | 1 |
| Dystonia | 4 |
| Encephalopathy | 3 |
| Eosinophilic Colitis (EC) | 3 |
| Eosinophilic Esophagitis (EoE) | 148 |
| Eosinophilic Gastritis (EG) | 3 |
| Eosinophilic Gastroenteritis (EGE) | 14 |
| Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss) | 7 |
| Erythropoietic Protoporphyria | 13 |
| FOXG1 mutation | 5 |
| Fabry Disease | 14 |
| Fatty Acid Oxidation Disorder | 2 |
| Focal and segmental glomerulosclerosis | 2 |
| GM1-Gangliosidosis types I/II/III | 3 |
| Gastrointestinal Disease | 5 |
| Gaucher disease | 3 |
| Generalized Dystonia | 6 |
| Granulomatosis with Polyangiitis (Wegener's) (GPA) | 8 |
| Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM) | 2 |
| Hereditary Pulmonary Alveolar Proteinosis (hPAP) | 1 |
| Hereditary spastic paraplegia (HSP) | 73 |
| Hermansky-Pudlak Syndrome (HPS) | 1 |
| Hunter syndrome | 6 |
| Hurler syndrome | 5 |
| Hypereosinophilic Syndrome | 2 |
| I-cell disease | 1 |
| Idiopathic Bronchiectasis | 15 |
| IgA Vasculitis (Henoch-Schonlein purpura) | 2 |
| KSS: Kearns-Sayre syndrome | 11 |
| Krabbe disease | 1 |
| LHON | 1 |
| LHON-plus | 2 |
| Leigh syndrome | 11 |
| Limb Dystonia | 1 |
| Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency | 5 |
| Lymphangioleiomyomatosis (LAM) | 57 |
| MERRF: Myoclonus Epilepsy Ragged-red Fibers | 1 |
| Maroteaux-Lamy syndrome | 2 |
| Maternally inherited Leigh syndrome (MILS) | 1 |
| Medium chain acylCoA dehydrogenase (MCAD) deficiency | 11 |
| Meige Syndrome | 1 |
| Membranous nephropathy | 1 |
| Metachromatic leukodystrophy | 1 |
| Microscopic Polyangiitis (MPA) | 1 |
| Mitochondrial DNA Depletion Syndrome | 4 |
| Mitochondrial Disease | 86 |
| Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS) | 13 |
| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) | 4 |
| Morquio syndrome | 3 |
| Mucolipidosis Type IV | 1 |
| Mucopolysaccharidoses (MPS) | 14 |
| Multiple Deletions of Mitochondrial DNA | 1 |
| Multiple Respiratory Chain Enzyme Deficiencies | 1 |
| Myasthenia Gravis | 587 |
| N-Acetylglutamate Synthase (NAGS) Deficiency | 1 |
| NARP: Neuropathy | 8 |
| NGLY1 Deficiency | 1 |
| Neuropathy | 4 |
| Niemann-Pick disease | 3 |
| Nontuberculous Mycobacterium (NTM) Pulmonary Disease | 9 |
| Northern Epilepsy | 1 |
| Ocular Myasthenia | 21 |
| Ornithine Transcarbamylase (OTC) Deficiency | 10 |
| Ornithine Translocase Deficiency (HHH Syndrome) | 2 |
| Osteogenesis Imperfecta (all types) | 16 |
| Other Dystonias | 3 |
| Other known Charcot Marie Tooth (CMT) Peripheral Neuropathy | 6 |
| Other unknown Charcot Marie Tooth (CMT) Peripheral Neuropathy | 3 |
| PMM2 Congenital Disorder of Glycosylation | 12 |
| PTEN Hamartoma Tumor Syndrome | 1 |
| Peripheral Neuropathy | 5 |
| Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder) | 3 |
| Phenylalanine hydroxylase deficiency (PKU) | 3 |
| Pompe Disease | 2 |
| Porphyria | 3 |
| Porphyria Cutanea Tarda | 4 |
| Primary Ciliary Dyskinesia (PCD) | 82 |
| Primary Immune Deficiency | 56 |
| Primary Lateral Sclerosis (PLS) | 27 |
| Pycnodysostosis | 1 |
| Pyruvate Dehydrogenase Complex Deficiencies (PDCD) | 9 |
| Rett Syndrome - Typical/Classic | 25 |
| SANDO: Sensory Ataxia Neuropathy | 4 |
| Sandhoff disease | 1 |
| Sanfilippo syndrome A | 5 |
| Sanfilippo syndrome C | 3 |
| Secondary Pulmonary Alveolar Proteinosis (sPAP) | 2 |
| Sjogren-Larsson Syndrome | 2 |
| Spasmodic Dysphonia | 1 |
| Sturge-Weber Syndrome (SWS) - Leptomeningeal Angiomatosis | 5 |
| Takayasu's Arteritis (TAK) | 2 |
| Tuberous Sclerosis Complex (TSC) | 3 |
| Turner Syndrome | 14 |
| Urea Cycle Disorder | 5 |
| Variegate Porphyria | 4 |
| Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency | 4 |
| Wolman Disease | 1 |
| X-Linked Protoporphyria | 2 |
| Other / My rare disease is not in the list | 1166 |
| Missing | 523 |