adenine phosphoribosyltransferase deficiency
adenine phosphoribosyltransferase deficiency
Explore linked clinical trials. Standard reference: MONDO:00138697 results ยท Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders | Arts syndrome, Blood Protein Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Hemolysis, Lesch-Nyhan syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Oroticaciduria 1, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Sneddon syndrome, X-linked disease, adenine phosphoribosyltransferase deficiency, adenosine monophosphate deaminase deficiency, adenylosuccinate lyase deficiency, anemia, beta-ureidopropionase deficiency, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebrovascular disorder, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, dysgammaglobulinemia, hematologic disorder, hereditary disease, hereditary motor and sensory neuropathy, hyper-IgM syndrome, immune system disorder, inborn disorder of purine or pyrimidine metabolism, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, inosine triphosphatase deficiency, intellectual disability, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, pontocerebellar hypoplasia, postaxial acrofacial dysostosis, purine nucleoside phosphorylase deficiency, skin disorder, skin vascular disease, vascular disorder, xanthinuria type I | Recruiting | Not stated | 2026-08-19 | NCT06092346 | |
| Prospective Research Rare Kidney Stones (ProRKS) | Abnormalities, Multiple, Amino Acid Transport Disorders, Inborn, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dent disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, adenine phosphoribosyltransferase deficiency, brain disorder, central nervous system disorder, cystinuria, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, nervous system disorder, oculocerebrorenal syndrome, primary hyperoxaluria, renal aminoaciduria, renal tubular transport disease, urinary system disorder | Recruiting | Not stated | 2026-08-07 | NCT02780297 | |
| Rare Kidney Stone Consortium Biobank | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dent disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, adenine phosphoribosyltransferase deficiency, cystinuria, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, primary hyperoxaluria, primary hyperoxaluria type 1, primary hyperoxaluria type 2, renal aminoaciduria, renal tubular transport disease, urinary system disorder | Recruiting | Not stated | 2026-07-22 | NCT02026388 | |
| Rare Kidney Stone Consortium Patient Registry | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dent disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, adenine phosphoribosyltransferase deficiency, cystinuria, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, primary hyperoxaluria, renal aminoaciduria, renal tubular transport disease, urinary system disorder | Recruiting | Not stated | 2026-07-10 | NCT00588562 | |
| Early Check: Expanded Screening in Newborns | 3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosis | Active, not recruiting | Not stated | 2026-07-01 | NCT03655223 | |
| Monogenic Kidney Stone - Genetic Testing | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dent disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, adenine phosphoribosyltransferase deficiency, cystinuria, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, primary hyperoxaluria, renal aminoaciduria, renal tubular transport disease, urinary system disorder | Recruiting | Not stated | 2026-04-13 | NCT03305835 | |
| National Registry of Rare Kidney Diseases | 46 XY differences of sex development, AH amyloidosis, Abnormalities, Multiple, Alport syndrome, Amino Acid Transport Disorders, Inborn, Arterial Occlusive Diseases, Bartter syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Ciliopathies, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, Dent disease, Denys-Drash syndrome, EAST syndrome, Fabry disease, Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 3, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Gitelman syndrome, Glycosuria, Hemic and Lymphatic Diseases, Hyperoxaluria, IgA glomerulonephritis, IgG4-related retroperitoneal fibrosis, Immunoglobulin Light-chain Amyloidosis, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Polycystic Kidney, Autosomal Recessive, Skin and Connective Tissue Diseases, Urination Disorders, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, Wilms tumor, X-linked disease, adenine phosphoribosyltransferase deficiency, adrenal gland disorder, adrenal gland hyperfunction, amyloidosis, anemia, arthropathy, atypical hemolytic-uremic syndrome, autoimmune disease, autosomal dominant polycystic kidney disease, autosomal recessive proximal renal tubular acidosis, benign urinary system neoplasm, blood platelet disease, brain disorder, calcinosis, calciphylaxis, calcium metabolic disease, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, complement 3 glomerulopathy, connective tissue disorder, cystic kidney disease, cystinosis, cystinuria, diabetes insipidus, disorder of sexual differentiation, endocrine system disorder, familial primary hypomagnesemia with hypocalcuria, familial renal glucosuria, fibromuscular dysplasia, focal segmental glomerulosclerosis, glomerulonephritis, glucose metabolism disease, gonadal disorder, hamartoma, hematologic disorder, hematuria, benign familial, hemolytic anemia, hemolytic-uremic syndrome, hereditary disease, hereditary hypophosphatemic rickets with hypercalciuria, hereditary neoplastic syndrome, hereditary nephritis, hereditary renal hypouricemia, hyperaldosteronism, immune system disorder, immunoproliferative disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intestinal hypomagnesemia 1, kidney cancer, kidney disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, membranoproliferative glomerulonephritis, membranous glomerulonephritis, metabolic disease, minimal change disease, mixed neoplasm, monoclonal gammopathy, musculoskeletal system disorder, nail disorder, nail-patella syndrome, neoplasm, nephritis, nephrogenic diabetes insipidus, nephrogenic syndrome of inappropriate antidiuresis, nephronophthisis, nephronophthisis 1, nephrosis, nephrotic syndrome, nephrotic syndrome of childhood - steroid sensitive, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, oculocerebrorenal syndrome, plasma cell neoplasm, polycystic kidney disease, primary hyperoxaluria, proteostasis deficiencies, pseudohypoaldosteronism, pseudohypoaldosteronism, type IB1, autosomal recessive, pure red-cell aplasia, renal aminoaciduria, renal cysts and diabetes syndrome, renal hypomagnesemia 3, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, renal tubular transport disease, skin disorder, sphingolipidosis, steroid-resistant nephrotic syndrome, thrombocytopenia, thrombotic microangiopathy, tuberous sclerosis, uremia, urinary system disorder, vascular disorder, vasculitis | Recruiting | Not stated | 2023-10-04 | NCT06065852 |