Angelman, Rett, and Prader-Willi Syndromes Consortium

• Angelman Syndrome
• Rett Syndrome
• Prader-Willi Syndrome

NEPTUNE: Nephrotic Syndrome Rare Disease Clinical Research Network

• Focal segmental glomerulosclerosis (FSGS)
• minimal change disease (MCD)
• membranous nephropathy (MN)
• Nephrotic syndrome, other or unspecified cause

Autonomic Rare Diseases Clinical Research Consortium

• Autoimmune autonomic neuropathy
• Baroreflex failure
• Dopamine beta hydroxylase deficiency (DBHD)
• Familial Dysautonomia
• Hypovolemic postural tachycardia syndrome (POTS)
• Lewy Body Disease
• Multiple system atrophy (MSA)
• Neurally Mediated Syncope
• Norepinephrine Transporter Dysfunction
• Parkinsonism with Autonomic Failure
• Pheochromocytoma
• Pure autonomic failure (PAF)
• Takotsubo Syndrome

Porphyrias Consortium

• Acute Intermittent Porphyria
• Hereditary Coproporphyria
• Variegate Porphyria
• Aminolevulinate Dehydratase Deficiency Porphyria
• Porphyria Cutanea Tarda
• Hepatoerythropoietic Porphyria
• Congenital erythropoietic Porphyria
• Erythropoietic Protoporphyria and X-Linked Protoporphyria

• Familial Cavernous Malformations (CCM) - Common Hispanic Mutation
• Sturge-Weber syndrome (SWS) - Leptomeningeal Angiomatosis
• Hereditary Hemorrhagic Telangectasia (HHT) - Brain Arteriovenous Malformation (BAVM)

Primary Immune Deficiency Treatment Consortium (PIDTC)

• Severe Combined Immunodeficiency (SCID)
• Wiskott-Aldrich Syndrome
• Chronic Granulomatous Disease

Chronic Graft Versus Host Disease Consortium (cGHVD)

• Bronchiolitis Obliterans
• Chronic Graft versus Host Disease
• Cutaneous Sclerosis
• Late Acute Graft versus Host Disease

Rare Kidney Stone Consortium

• primary hyperoxaluria
• cystinuria
• dihydroxyadeninuria
• Dent disease

Consortium for Clinical Investigation of Neurological Channelopathies (CINCH)

• Andersen-Tawil Syndrome (Periodic Paralysis)
• Episodic Ataxias
• Non-dystrophic Myotonic Disorders

Salivary Gland Carcinomas Consortium

• mucoepidermoid carcinoma (MEC)
• adenoid cystic carcinoma (ACC)
• Adenocarcinoma salivary duct carcinoma (ACC)

Genetic Diseases of Mucociliary Clearance Consortium

• Primary Ciliary Dyskinesia (PCD)
• Cystic Fibrosis
• Pseudohypoaldosteronism (PHA)

Spinocerebellar Ataxia - Clinical Research Consortium

• Ataxia telangiectasia
• Ataxia with oculomotor apraxia (AOA) type 1
• Ataxia with oculomotor apraxia (AOA) type 2
• Ataxia with vitamin E deficiency (AVED)
• Ataxia, unknown cause
• Autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS)
• Dentatorubral-pallidoluysian atrophy (DRPLA)
• Fragile X tremor-ataxia syndrome (FXTAS)
• Friedreich's ataxia
• GAD ataxia
• Gluten ataxia
• Mitochondrial ataxia
• Mitochondrial recessive ataxia syndrome (MIRAS; POLG mutation)
• Multiple system atrophy-cerebellar type (MSA-C)
• Olivopontocerebellar atrophy (OPCA)
• Paraneoplastic ataxia
• Spinocerebellar ataxia 1(SCA1)
• Spinocerebellar ataxia 2(SCA2)
• Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
• Spinocerebellar ataxia 4(SCA4)
• Spinocerebellar ataxia 5(SCA5)
• Spinocerebellar ataxia 6(SCA6)
• Spinocerebellar ataxia 7(SCA7)
• Spinocerebellar ataxia 8(SCA8)
• Spinocerebellar ataxia 10(SCA10)
• Spinocerebellar ataxia 11(SCA11)
• Spinocerebellar ataxia 12(SCA12)
• Spinocerebellar ataxia 13(SCA13)
• Spinocerebellar ataxia 14(SCA14)
• Spinocerebellar ataxia 15(SCA15)
• Spinocerebellar ataxia 16(SCA16)
• Spinocerebellar ataxia 17(SCA17)
• Spinocerebellar ataxia 18(SCA18)
• Spinocerebellar ataxia 19(SCA19)
• Spinocerebellar ataxia 20(SCA20)
• Spinocerebellar ataxia 21(SCA21)
• Spinocerebellar ataxia 22(SCA22)
• Spinocerebellar ataxia 23(SCA23)
• Spinocerebellar ataxia 24(SCA24); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4
• Spinocerebellar ataxia 25(SCA25)
• Spinocerebellar ataxia 26(SCA26)
• Spinocerebellar ataxia 27(SCA27)
• Spinocerebellar ataxia 28(SCA28)
• Spinocerebellar ataxia 29(SCA29)
• Spinocerebellar ataxia 31(SCA31)
• Sporadic ataxia (onset before 20 years)
• Sporadic ataxia (onset between 20-50 years)
• Sporadic ataxia (onset after 50 years)

Inherited Neuropathies Consortium

• CMT1A
• CMT1B
• CMT2A
• CMTX
• CMT4
• Other known CMT peripheral neuropathy
• Other unknown CMT peripheral neuropathy

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

Lysosomal Disease Network

• alpha-Mannosidosis types I / II
• Aspartylglucosaminuria
• Batten disease
• Batten disease, late infantile
• beta-Mannosidosis
• Bone Disease in the MPS
• Cystinosis
• Danon disease
• Fabry Disease
• Farber disease
• Fucosidosis
• GM1-Gangliosidosis types I/II/III
• GM2-Gangliosidosis
• Galactosialidosis types I / II
• Gaucher disease
• Glycoproteinoses
• Hunter syndrome
• Hurler syndrome
• I-cell disease
• Krabbe disease
• Late Infantile Neuronal Ceroid
• Lipofuscinosis
• Maroteaux-Lamy syndrome
• Metachromatic leukodystrophy
• Morquio syndrome
• Mucolipidosis Type IV
• Mucopolysaccharidoses (MPS)
• Mucopolysaccharidosis type IX
• Multiple sulfatase deficiency
• Niemann-Pick disease
• Northern Epilepsy
• Pompe Disease
• pseudo-Hurler polydystrophy
• Pycnodysostosis
• Sandhoff disease
• Sanfilippo syndrome A
• Sanfilippo syndrome B
• Sanfilippo syndrome C
• Sanfilippo syndrome D
• Scheie syndrome
• Schindler disease
• Sialidosis types I / II
• Sialuria, Salla disease
• Sly syndrome
• Tay-Sachs disease
• Vogt-Spielmeyer disease
• Wolman Disease

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)

North American Mitochondrial Diseases Consortium

• AID: Aminoglycoside-Induced Deafness
• Alpers syndrome
• Barth 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 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

Vasculitis Clinical Research Consortium

• Behcet's Disease
• Churg-Strauss Syndrome (CSS)
• CNS Vasculitis
• Drug-induced Vasculitis
• Giant Cell (Temporal) Arteritis (GCA)
• Granulomatosis with Polyangiitis (Wegener's) (GPA).
• Henoch-Schoenlein Purpura
• Kawasaki Disease
• Microscopic Polyangiitis (MPA)
• Polyarteritis Nodosa (PAN)
• Takayasu's Arteritis (TAK)