Metabolic disease

Part of

Sub-types of Metabolic disease

• Glucose metabolism disease 62 trials · 4,139 incl. sub-types
  9 sub-types

  • Diabetes mellitus 1,275 trials · 3,825 incl. sub-types Sub-types →
  • Prediabetes syndrome 445 trials
  • Glucose intolerance 149 trials
  • Hyperglycemia 132 trials
  • Hypoglycemia 119 trials
  • Hyperinsulinism 34 trials · 42 incl. sub-types Sub-types →
  • Disorder of gluconeogenesis 0 trials · 1 incl. sub-types Sub-types →
  • Glyceraldehyde-3-phosphate dehydrogenase deficiency 0 trials
  • Triosephosphate isomerase deficiency 0 trials
• Inborn errors of metabolism 48 trials · 2,231 incl. sub-types
  93 sub-types

  • Inherited lipid metabolism disorder 201 trials · 644 incl. sub-types Sub-types →
  • Inborn carbohydrate metabolic disorder 3 trials · 370 incl. sub-types Sub-types →
  • Abdominal obesity-metabolic syndrome 302 trials · 359 incl. sub-types Sub-types →
  • Lysosomal storage disease 38 trials · 303 incl. sub-types Sub-types →
  • Inborn disorder of energy metabolism 2 trials · 235 incl. sub-types Sub-types →
  • Inborn disorder of amino acid and other organic acid metabolism 0 trials · 225 incl. sub-types Sub-types →
  • Waldenstrom macroglobulinemia 136 trials Sub-types →
  • DNA repair disease 13 trials · 105 incl. sub-types Sub-types →
  • Hereditary amyloidosis 19 trials · 79 incl. sub-types Sub-types →
  • Inborn disorder of porphyrin metabolism 0 trials · 63 incl. sub-types Sub-types →
  • Mucopolysaccharidosis or mucopolysaccharidosis-like disorder 0 trials · 62 incl. sub-types Sub-types →
  • Inborn metal metabolism disorder 1 trial · 60 incl. sub-types Sub-types →
  • Disorder of metabolite absorption and transport 0 trials · 59 incl. sub-types Sub-types →
  • Inborn disorder of purine or pyrimidine metabolism 1 trial · 50 incl. sub-types Sub-types →
  • Plasma protein metabolism disease 0 trials · 47 incl. sub-types Sub-types →
  • Peroxisomal disease 2 trials · 38 incl. sub-types Sub-types →
  • Congenital disorder of glycosylation 7 trials · 36 incl. sub-types Sub-types →
  • Monogenic diabetes 9 trials · 24 incl. sub-types Sub-types →
  • Glycoprotein metabolism disease 1 trial · 23 incl. sub-types Sub-types →
  • Disorder of lysosomal-related organelles 0 trials · 17 incl. sub-types Sub-types →
  • Familial intrahepatic cholestasis 1 trial · 17 incl. sub-types Sub-types →
  • Hereditary lipodystrophy 2 trials · 17 incl. sub-types Sub-types →
  • Hypophosphatasia 13 trials Sub-types →
  • Familial hypoparathyroidism 0 trials · 10 incl. sub-types Sub-types →
  • Inborn disorder of biogenic amine metabolism and transport 0 trials · 10 incl. sub-types Sub-types →
  • Inherited thyroid metabolism disease 0 trials · 8 incl. sub-types Sub-types →
  • Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types Sub-types →
  • Inborn vitamin metabolic disorder 0 trials · 7 incl. sub-types Sub-types →
  • Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types Sub-types →
  • Disorder of peptide and amine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Congenital disorder of deglycosylation 0 trials · 2 incl. sub-types Sub-types →
  • Diastrophic dysplasia 2 trials
  • Hypercalcemia, infantile 2 trials Sub-types →
  • Hypoalphalipoproteinemia, primary, 1 2 trials
  • 2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types Sub-types →
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
  • Diabetes mellitus, noninsulin-dependent, 1 1 trial
  • Diabetes mellitus, noninsulin-dependent, 2 1 trial
  • Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types Sub-types →
  • Fish eye disease 1 trial
  • Hereditary recurrent myoglobinuria 0 trials · 1 incl. sub-types Sub-types →
  • Thiopurine metabolic disease 0 trials · 1 incl. sub-types Sub-types →
  • 4-hydroxyphenylacetic aciduria 0 trials
  • 5-nucleotidase syndrome 0 trials
  • APO A-i deficiency 0 trials
  • CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Lane Hamilton syndrome 0 trials
  • NAD(P)HX dehydratase deficiency 0 trials
  • SQSTM1-related multisystem proteinopathy 0 trials Sub-types →
  • Achondrogenesis type IB 0 trials
  • Antigen-peptide-transporter 2 deficiency 0 trials
  • Apolipoprotein c-III deficiency 0 trials
  • Aromatase excess syndrome 0 trials
  • Atelosteogenesis type II 0 trials
  • Autosomal dominant dopa-responsive dystonia 0 trials Sub-types →
  • Autosomal dominant myoglobinuria 0 trials
  • Autosomal dominant proximal renal tubular acidosis 0 trials
  • Autosomal recessive proximal renal tubular acidosis 0 trials
  • Cardiomyopathy hypogonadism metabolic anomalies 0 trials
  • Chondrocalcinosis 2 0 trials
  • Chondrodysplasia with joint dislocations, gPAPP type 0 trials
  • Combined ApoA-I and ApoC-III deficiency 0 trials
  • Defective apolipoprotein b-100 0 trials
  • Deficiency of coenzyme q cytochrome c reductase 0 trials
  • Diabetes mellitus, noninsulin-dependent, 3 0 trials
  • Diabetes mellitus, noninsulin-dependent, 4 0 trials
  • Diabetes mellitus, noninsulin-dependent, 5 0 trials
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 trials
  • Ferro-cerebro-cutaneous syndrome 0 trials
  • Gluthathione peroxidase deficiency 0 trials
  • Hemolytic anemia due to diphosphoglycerate mutase deficiency 0 trials
  • Hypercholesterolemia, familial, 4 0 trials
  • Hypermanganesemia with dystonia 0 trials Sub-types →
  • Hypertriglyceridemia 1 0 trials
  • Hypertriglyceridemia 2 0 trials
  • Hypoalphalipoproteinemia, primary, 2 0 trials Sub-types →
  • Hypotonia-failure to thrive-microcephaly syndrome 0 trials
  • Inborn disorder of aspartate family metabolism 0 trials Sub-types →
  • Inborn glycerol kinase deficiency 0 trials Sub-types →
  • Inherited threoninemia 0 trials
  • Multiple epiphyseal dysplasia type 4 0 trials
  • Normophosphatemic familial tumoral calcinosis 0 trials
  • Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0 trials
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 0 trials
  • Striatonigral degeneration 0 trials Sub-types →
  • Sulfide quinone oxidoreductase deficiency 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 1 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 2 0 trials
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 0 trials
  • Uridine-cytidineuria 0 trials
  • Weinstein kliman scully syndrome 0 trials
• Proteostasis deficiencies 1 trial · 561 incl. sub-types
  4 sub-types

  • Amyloidosis 133 trials · 323 incl. sub-types Sub-types →
  • Synucleinopathy 18 trials · 237 incl. sub-types Sub-types →
  • TDP-43 proteinopathy 3 trials
  • SQSTM1-related multisystem proteinopathy 0 trials Sub-types →
• Hyperlipidemia 307 trials · 401 incl. sub-types
  3 sub-types

  • Familial hyperlipidemia 8 trials · 130 incl. sub-types Sub-types →
  • Hyperalphalipoproteinemia 0 trials Sub-types →
  • Laminopathy type Decaudain-Vigouroux 0 trials
• Carbohydrate metabolism disease 4 trials · 385 incl. sub-types
  6 sub-types

  • Inborn carbohydrate metabolic disorder 3 trials · 370 incl. sub-types Sub-types →
  • Carbohydrate transport disease 0 trials · 156 incl. sub-types Sub-types →
  • Scurvy 13 trials
  • Intestinal disaccharidase deficiency 0 trials · 2 incl. sub-types Sub-types →
  • Acquired carbohydrate metabolism disease 0 trials
  • Glycerol metabolism disease 0 trials
• Developmental anomaly of metabolic origin 0 trials · 384 incl. sub-types
  57 sub-types

  • Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types Sub-types →
  • Fabry disease 64 trials
  • Mucopolysaccharidosis 14 trials · 62 incl. sub-types Sub-types →
  • Sterol biosynthesis disorder 0 trials · 45 incl. sub-types Sub-types →
  • Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
  • Hypophosphatasia 13 trials Sub-types →
  • Oligosaccharidosis 0 trials · 11 incl. sub-types Sub-types →
  • Pseudohypoparathyroidism 8 trials · 9 incl. sub-types Sub-types →
  • Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
  • Cockayne syndrome 6 trials Sub-types →
  • Creatine transporter deficiency 6 trials
  • Mucolipidosis 4 trials · 5 incl. sub-types Sub-types →
  • Classic homocystinuria 4 trials
  • Mucosulfatidosis 4 trials
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
  • AICA-ribosiduria 1 trial
  • Nijmegen breakage syndrome 1 trial
  • SLC35A2-congenital disorder of glycosylation 1 trial
  • Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial Sub-types →
  • Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Occipital horn syndrome 1 trial
  • ALDH18A1-related de Barsy syndrome 0 trials
  • Al-Gazali syndrome 0 trials
  • B4GALT1-congenital disorder of glycosylation 0 trials
  • CADDS 0 trials
  • CHIME syndrome 0 trials
  • COG1-congenital disorder of glycosylation 0 trials
  • COG7-congenital disorder of glycosylation 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Larsen-like syndrome, B3GAT3 type 0 trials
  • MGAT2-congenital disorder of glycosylation 0 trials
  • Neu-Laxova syndrome 0 trials Sub-types →
  • Nijmegen breakage syndrome-like disorder 0 trials
  • Peters plus syndrome 0 trials
  • RFT1-congenital disorder of glycosylation 0 trials
  • SHORT syndrome 0 trials
  • SLC39A8-CDG 0 trials
  • SSR4-congenital disorder of glycosylation 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • XYLT1-congenital disorder of glycosylation 0 trials
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 trials
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Cutis laxa, autosomal dominant 3 0 trials
  • Developmental and epileptic encephalopathy, 77 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
  • Mandibuloacral dysplasia 0 trials Sub-types →
  • Mucopolysaccharidosis-plus syndrome 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 trials
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
  • Pontocerebellar hypoplasia type 1 0 trials Sub-types →
  • Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
  • Transketolase deficiency 0 trials
• Diabetic retinopathy 148 trials · 260 incl. sub-types
  3 sub-types

  • Diabetic macular edema 120 trials
  • Background diabetic retinopathy 26 trials Sub-types →
  • Proliferative diabetic retinopathy 19 trials
• Acquired metabolic disease 0 trials · 183 incl. sub-types
  13 sub-types

  • AL amyloidosis 93 trials · 99 incl. sub-types Sub-types →
  • Paroxysmal nocturnal hemoglobinuria 73 trials Sub-types →
  • Acquired lipodystrophy 3 trials · 9 incl. sub-types Sub-types →
  • Acquired hyperprolactinemia 1 trial Sub-types →
  • Auto-brewery syndrome 1 trial
  • Acquired adrenogenital syndrome 0 trials
  • Acquired carbohydrate metabolism disease 0 trials
  • Acquired lactic acidosis 0 trials
  • Acquired mineral metabolism disease 0 trials
  • Acquired porphyria 0 trials Sub-types →
  • Acquired xanthinuria 0 trials
  • Bladder fermentation syndrome 0 trials
  • Carotenemia 0 trials
• Amino acid metabolism disease 2 trials · 160 incl. sub-types
  4 sub-types

  • Inborn disorder of amino acid metabolism 6 trials · 159 incl. sub-types Sub-types →
  • Creatine biosynthetic process disease 0 trials · 1 incl. sub-types Sub-types →
  • Glycine metabolism disease 0 trials Sub-types →
  • Valine metabolism disease 0 trials Sub-types →
• Disorder of organic acid metabolism 0 trials · 154 incl. sub-types
  20 sub-types

  • Disorder of phenylalanine metabolism 0 trials · 60 incl. sub-types Sub-types →
  • Pyruvate metabolism disorder 0 trials · 31 incl. sub-types Sub-types →
  • Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types Sub-types →
  • Scurvy 13 trials
  • Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types Sub-types →
  • Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types Sub-types →
  • Disorder of tyrosine metabolism 0 trials · 8 incl. sub-types Sub-types →
  • Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types Sub-types →
  • Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Biotin metabolic disease 0 trials · 3 incl. sub-types Sub-types →
  • Creatine biosynthetic process disease 0 trials · 1 incl. sub-types Sub-types →
  • Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types Sub-types →
  • Inborn serine deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
  • Glycine metabolism disease 0 trials Sub-types →
  • Inborn disorder of histidine metabolism 0 trials Sub-types →
  • Inborn disorder of proline metabolism 0 trials Sub-types →
  • Inborn disorder of tryptophan metabolism 0 trials Sub-types →
  • Valine metabolism disease 0 trials Sub-types →
• Mineral metabolism disease 2 trials · 137 incl. sub-types
  13 sub-types

  • Calcium metabolic disease 5 trials · 62 incl. sub-types Sub-types →
  • Phosphorus metabolism disease 1 trial · 33 incl. sub-types Sub-types →
  • Iron metabolism disease 2 trials · 22 incl. sub-types Sub-types →
  • Sulfur metabolism disease 0 trials · 14 incl. sub-types Sub-types →
  • Potassium deficiency disease 4 trials · 5 incl. sub-types Sub-types →
  • Diastrophic dysplasia 2 trials
  • Achondrogenesis type IB 0 trials
  • Acquired mineral metabolism disease 0 trials
  • Atelosteogenesis type II 0 trials
  • Chondrodysplasia with joint dislocations, gPAPP type 0 trials
  • Multiple epiphyseal dysplasia type 4 0 trials
  • Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
  • Spondyloepiphyseal dysplasia with congenital joint dislocations 0 trials
• Diabetic kidney disease 133 trials
• Hyperlipoproteinemia 8 trials · 106 incl. sub-types
  4 sub-types

  • Familial hypercholesterolemia 58 trials · 94 incl. sub-types Sub-types →
  • Familial lipoprotein lipase deficiency 6 trials
  • Hyperalphalipoproteinemia 0 trials Sub-types →
  • Hypercholesterolemia, familial, 4 0 trials
• Steroid metabolism disease 1 trial · 104 incl. sub-types
  4 sub-types

  • Sterol metabolism disorder 0 trials · 60 incl. sub-types Sub-types →
  • Adrenogenital syndrome 0 trials · 41 incl. sub-types Sub-types →
  • Vitamin D hydroxylation-deficient rickets, type 1B 3 trials
  • Corticosterone methyloxidase type 1 deficiency 0 trials
• Gout 103 trials
• Hypertriglyceridemia 75 trials
  2 sub-types

  • Hypertriglyceridemia 1 0 trials
  • Hypertriglyceridemia 2 0 trials
• Disorder of GPI anchor biosynthesis 0 trials · 73 incl. sub-types
  11 sub-types

  • Paroxysmal nocturnal hemoglobinuria 73 trials Sub-types →
  • Developmental and epileptic encephalopathy, 55 0 trials
  • Developmental and epileptic encephalopathy, 77 0 trials
  • Developmental and epileptic encephalopathy, 80 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 16 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 17 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 18 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 25 0 trials
  • Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 0 trials Sub-types →
  • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 trials
• Porphyrin metabolism disease 0 trials · 64 incl. sub-types
  2 sub-types

  • Inborn disorder of porphyrin metabolism 0 trials · 63 incl. sub-types Sub-types →
  • Porphyria 8 trials · 25 incl. sub-types Sub-types →
• Lipodystrophy 30 trials · 48 incl. sub-types
  5 sub-types

  • Partial lipodystrophy 7 trials · 19 incl. sub-types Sub-types →
  • Hereditary lipodystrophy 2 trials · 17 incl. sub-types Sub-types →
  • Generalized lipodystrophy 8 trials · 11 incl. sub-types Sub-types →
  • Acquired lipodystrophy 3 trials · 9 incl. sub-types Sub-types →
  • Localized lipodystrophy 0 trials · 4 incl. sub-types Sub-types →
• Bilirubin metabolism disease 0 trials · 48 incl. sub-types
  2 sub-types

  • Inborn disorder of bilirubin metabolism 0 trials · 39 incl. sub-types Sub-types →
  • Hyperbilirubinemia 28 trials Sub-types →
• Disorder of acid-base balance 6 trials · 28 incl. sub-types
  1 sub-type

  • Acidosis disorder 4 trials · 23 incl. sub-types Sub-types →
• Vitamin B12 deficiency 12 trials · 15 incl. sub-types
  1 sub-type

  • Inborn disorder of cobalamin metabolism and transport 1 trial · 3 incl. sub-types Sub-types →
• Purine metabolism disease 0 trials · 14 incl. sub-types
  1 sub-type

  • Inborn disorder of purine metabolism 0 trials · 14 incl. sub-types Sub-types →
• Pyrimidine metabolism disease 0 trials · 11 incl. sub-types
  1 sub-type

  • Inborn disorder of pyrimidine metabolism 0 trials · 11 incl. sub-types Sub-types →
• Lactic acidosis 8 trials
  3 sub-types

  • Acquired lactic acidosis 0 trials
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome 0 trials
  • Mitochondrial DNA depletion syndrome 9 0 trials
• Chondrocalcinosis 5 trials · 7 incl. sub-types
  3 sub-types

  • Chondrocalcinosis due to apatite crystal deposition 2 trials
  • Chondrocalcinosis 1 0 trials
  • Chondrocalcinosis 2 0 trials
• Hypoalphalipoproteinemia 1 trial · 7 incl. sub-types
  6 sub-types

  • LCAT deficiency 1 trial · 4 incl. sub-types Sub-types →
  • Apolipoprotein A-I deficiency 0 trials · 2 incl. sub-types Sub-types →
  • Tangier disease 0 trials
  • Apolipoprotein A-II deficiency 0 trials
  • Combined ApoA-I and ApoC-III deficiency 0 trials
  • Familial apolipoprotein gene cluster deletion syndrome 0 trials
• Glutaric aciduria 0 trials · 5 incl. sub-types
  3 sub-types

  • Glutaryl-CoA dehydrogenase deficiency 4 trials
  • Multiple acyl-CoA dehydrogenase deficiency 1 trial Sub-types →
  • Glutaric acidemia type 3 0 trials
• Tumor lysis syndrome 3 trials
• Dopa-responsive dystonia 1 trial · 2 incl. sub-types
  4 sub-types

  • TH-deficient dopa-responsive dystonia 1 trial
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 trial
  • Autosomal dominant dopa-responsive dystonia 0 trials Sub-types →
  • Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive 0 trials
• Ochronosis disorder 1 trial
  1 sub-type

  • Exogenous ochronosis 0 trials
• Xanthoma 1 trial
  1 sub-type

  • Verruciform xanthoma of skin 0 trials
• Xanthinuria 0 trials · 1 incl. sub-types
  2 sub-types

  • Hereditary xanthinuria 0 trials · 1 incl. sub-types Sub-types →
  • Acquired xanthinuria 0 trials
• Collagenous sprue 0 trials
• Disorder of glutamate decarboxylase 0 trials
• Skeletal fluorosis 0 trials
• Steroid dehydrogenase deficiency-dental anomalies syndrome 0 trials