The RDCRN is made up of 19 distinctive consortia that are working in concert to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community.

Click on the Consortium Name to view the diseases or disorders studied by each consortium. Clicking on a disease or disorder name will take you directly to a description of that disease or disorder.

• [+] Angelman, Rett, and Prader-Willi Syndromes Consortium
  • Angelman Syndrome
  • Rett Syndrome
  • Prader-Willi Syndrome

• [+] Inherited Neuropathies Consortium
  • Charcot Marie Tooth Disease (CMT) including CMT1, the dominantly inherited demyelinating neuropathies
  • CMT2, the dominantly inherited axonal neuropathies
  • CMT4, the recessively inherited neuropathies

• [+] Autonomic Rare Diseases Clinical Research Consortium
  • Multiple system atrophy (MSA)
  • baroreflex failure
  • autoimmune autonomic neuropathy
  • pure autonomic failure (PAF)
  • hypovolemic postural tachycardia syndrome (hPOTS)
  • dopamine beta hydroxylase deficiency (DBHD)

• [+] Lysosomal Disease Network
  • Mucopolysaccharidoses (MPS)
  • Batten Disease
  • Niemann-Pick Type C
  • Mucolipidosis Type IV
  • Late Infantile Neuronal Ceroid
  • Lipofuscinosis
  • Glycoproteinoses
  • GM2-gangliosidoses
  • Wolman Disease
  • Pompe Disease
  • Bone Disease in the MPS
  • Fabry Disease

• [+] Clinical Research Consortium for Spinocerebellar Ataxias
  • Spinocerebellar ataxia:
  • SCA 1
  • SCA 2
  • SCA 3
  • SCA 6

• [+] North American Mitochondrial Diseases Consortium
  • AID: Aminoglycoside-Induced Deafness
  • Alpers syndrome
  • CoQ Deficiency
  • CPEO: Chronic Progressive External Ophthalmoplegia
  • DAD: Diabetes and Deafness
  • Encephalopathy
  • Encephalomyopathy
  • FBSN: Familial Bilateral Striatal Necrosis
  • Hepatocerebral disease
  • KSS: Kearns-Sayre syndrome
  • Leigh Syndrome
  • Leukoencephalopathy
  • LHON: Leber’s Hereditary Optic Neuropathy
  • MELAS: Mitochondrial Encephalopathy Lactic Acidosis with Stroke-like Episodes
  • MERRF: Myoclonus Epilepsy Ragged-red Fibers
  • MILS: Maternally Inherited Leigh Syndrome
  • MNGIE: Mitochondrial Neurogastrointestinal Encephalomyopathy
  • Mitochondrial DNA Depletion Syndrome
  • Multiple Deletions of Mitochondrial DNA
  • NARP: Neuropathy, Ataxia and Retinitis Pigmentosa Syndrome
  • Pearson Syndrome
  • SANDO: Sensory Ataxia Neuropathy Dysarthria Ophthalmoplegia
  • Complex I Deficiency
  • Complex II (SDH) Deficiency
  • Complex III Deficiency
  • Complex IV Deficiency
  • Complex V Deficiency
  • Multiple Respiratory Chain Enzyme Deficiencies

• [+] Dystonia Coalition
  • cervical dystonia
  • blepharospasm
  • spasmodic dysphonia
  • craniofacial dystonia
  • limb dystonia

• [+] Porphyria Consortium
  • Acute Intermittent Porphyria
  • Hereditary Coproporphyria
  • Variegate Porphyria
  • Aminolevulinate Dehydratase Deficiency Porphyria
  • Porphyria Cutanea Tarda
  • Hapatoerythropoietic Porphyria
  • Congenital Porphyria
  • Erythropoietic Protoporphyria and X-Linked Protoporphyria

• [+] Genetic Disorders of Mucociliary Clearance
  • Primary Ciliary Dyskinesia (PCD)
  • Cystic Fibrosis
  • Pseudohypoaldosteronism (PHA)

• [+] Primary Immune Deficiency Treatment Consortium
  • severe combined immunodeficiency (SCID)
  • Wiskott-Aldrich syndrome (WAS)
  • chronic granulomatous disease (CGD)

• [+] Hereditary Causes of Nephrolithiasis and Kidney Failure
  • primary hyperoxaluria
  • cystinuria
  • APRT deficiency (Dihydroxyadeninuria)
  • Dent's disease

• [+] STAIR: Sterol and Isoprenoid Diseases Consortium
  • Cerebrotendinous Xanthomatosis
  • Mevalonic Aciduria
  • Hyperimmunoglobulinemia D with Periodic Fever Syndrome
  • Niemann-Pick Disease Type C
  • Sitosterolemia
  • Sjögren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome

• [+] Immune Mediated Disorders After Allogeneic Hematopoietic Stem Cell Transfer
  • Cutaneous sclerosis
  • bronchiolitis obliterans
  • late acute graft versus host disease (GVHD)

• [+] Urea Cycle Disorders Consortium
  • N-Acetylglutamate Synthase (NAGS) Deficiency
  • Carbamyl Phosphate Synthetase (CPS) Deficiency
  • Ornithine Transcarbamylase (OTC) Deficiency
  • Argininosuccinate Synthetase Deficiency (Citrullinemia I)
  • Citrin Deficiency (Citrullinemia II)
  • Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
  • Arginase Deficiency ( Hyperargininemia)
  • Ornithine Translocase Deficiency (HHH) Syndrome

• [+] Vasculitis Clinical Research Consortium
  • Wegener’s Granulomatosis (WG)
  • Microscopic Polyangiitis (MPA)
  • Churg-Strauss Syndrome (CSS)
  • Polyarteritis Nodosa (PAN)
  • Takayasu's Arteritis (TAK)
  • Giant Cell (Temporal) Arteritis (GCA)