Inherited lipid metabolism disorder

Part of

Sub-types of Inherited lipid metabolism disorder

• Lysosomal lipid storage disorder 2 trials · 192 incl. sub-types
  7 sub-types

  • Sphingolipidosis 6 trials · 166 incl. sub-types Sub-types →
  • Cerebral lipidosis with dementia 0 trials · 38 incl. sub-types Sub-types →
  • Neuronal ceroid lipofuscinosis 6 trials · 23 incl. sub-types Sub-types →
  • Xanthomatosis 2 trials · 8 incl. sub-types Sub-types →
  • Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types Sub-types →
  • Neutral lipid storage disease 1 trial · 2 incl. sub-types Sub-types →
  • Triglyceride storage disease 0 trials Sub-types →
• Familial hyperlipidemia 8 trials · 130 incl. sub-types
  10 sub-types

  • Familial hypercholesterolemia 58 trials · 94 incl. sub-types Sub-types →
  • Hyperlipidemia, familial combined, LPL related 22 trials
  • Familial lipoprotein lipase deficiency 6 trials
  • Hyperlipoproteinemia type 3 4 trials
  • Hyperlipoproteinemia type V 2 trials
  • Cholesterol-ester transfer protein deficiency 0 trials
  • Familial apolipoprotein C-II deficiency 0 trials
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 trials
  • Hyperlipidemia, combined, 2 0 trials
  • Hyperlipoproteinemia, type 1D 0 trials
• Syndromic dyslipidemia 0 trials · 73 incl. sub-types
  29 sub-types

  • CHILD syndrome 37 trials
  • Smith-Lemli-Opitz syndrome 6 trials
  • Cerebrotendinous xanthomatosis 6 trials
  • Familial lipoprotein lipase deficiency 6 trials
  • Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types Sub-types →
  • Barth syndrome 5 trials
  • Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
  • GM1 gangliosidosis type 1 3 trials
  • Sjogren-Larsson syndrome 3 trials
  • Nephrotic syndrome 14 3 trials
  • Apparent mineralocorticoid excess 1 trial
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
  • Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types Sub-types →
  • Rhizomelic chondrodysplasia punctata type 1 1 trial
  • CHIME syndrome 0 trials
  • Krabbe disease due to saposin A deficiency 0 trials
  • PHARC syndrome 0 trials
  • Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
  • Familial apolipoprotein C-II deficiency 0 trials
  • Fatty acid hydroxylase-associated neurodegeneration 0 trials
  • Hereditary spastic paraplegia 39 0 trials Sub-types →
  • Hyperlipoproteinemia, type 1D 0 trials
  • Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
  • Intellectual disability, autosomal recessive 53 0 trials
  • Lipoprotein glomerulopathy 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Sea-blue histiocyte syndrome 0 trials
  • Sitosterolemia 0 trials Sub-types →
• Sterol metabolism disorder 0 trials · 60 incl. sub-types
  4 sub-types

  • Sterol biosynthesis disorder 0 trials · 45 incl. sub-types Sub-types →
  • Cholesterol metabolism disease 3 trials · 13 incl. sub-types Sub-types →
  • Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types Sub-types →
  • Recessive X-linked ichthyosis 2 trials Sub-types →
• Steroid inherited metabolic disorder 0 trials · 39 incl. sub-types
  3 sub-types

  • Congenital adrenal hyperplasia 36 trials · 38 incl. sub-types Sub-types →
  • Congenital bile acid synthesis defect 1 trial · 2 incl. sub-types Sub-types →
  • Apparent mineralocorticoid excess 1 trial
• Inherited fatty acid metabolism disorder 7 trials · 21 incl. sub-types
  3 sub-types

  • Disorder of fatty acid oxidation and ketogenesis 1 trial · 16 incl. sub-types Sub-types →
  • Carnitine palmitoyl transferase 1A deficiency 1 trial
  • Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types Sub-types →
• Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 0 trials · 15 incl. sub-types
  17 sub-types

  • Barth syndrome 5 trials
  • Sjogren-Larsson syndrome 3 trials
  • Nephrotic syndrome 14 3 trials
  • Hereditary sensory and autonomic neuropathy type 1 0 trials · 2 incl. sub-types Sub-types →
  • Neutral lipid storage disease 1 trial · 2 incl. sub-types Sub-types →
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 trials
  • GM3 synthase deficiency 0 trials
  • PHARC syndrome 0 trials
  • Sengers syndrome 0 trials
  • Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
  • Fatty acid hydroxylase-associated neurodegeneration 0 trials
  • Hereditary spastic paraplegia 39 0 trials Sub-types →
  • Megaconial type congenital muscular dystrophy 0 trials
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 trials
  • Progressive myoclonic epilepsy type 8 0 trials
  • Spinocerebellar ataxia type 38 0 trials
• Hypolipoproteinemia 2 trials · 7 incl. sub-types
  3 sub-types

  • Hypobetalipoproteinemia 2 trials · 3 incl. sub-types Sub-types →
  • Norum disease 2 trials
  • Tangier disease 0 trials
• Glucocorticoid resistance 3 trials
• Mitochondrial trifunctional protein deficiency 3 trials
  2 sub-types

  • Mitochondrial trifunctional protein deficiency 1 0 trials
  • Mitochondrial trifunctional protein deficiency 2 0 trials
• Vitamin D hydroxylation-deficient rickets, type 1B 3 trials
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
• CYP7B1-related disorder of oxysterol accumulation 0 trials · 2 incl. sub-types
  2 sub-types

  • Hereditary spastic paraplegia 5A 2 trials
  • Congenital bile acid synthesis defect 3 0 trials
• Disorder of plasmalogens biosynthesis 0 trials · 2 incl. sub-types
  5 sub-types

  • Rhizomelic chondrodysplasia punctata 2 trials Sub-types →
  • Acyl-CoA binding domain containing protein 5 deficiency 1 trial
  • Alkylglycerone-phosphate synthase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Glyceronephosphate O-acyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Fatty acyl-CoA reductase defects 0 trials Sub-types →
• Disorder of sphingolipid biosynthesis 1 trial
• Inborn disorder of ketolysis 0 trials · 1 incl. sub-types
  2 sub-types

  • Beta-ketothiolase deficiency 1 trial
  • Succinyl-CoA:3-ketoacid CoA transferase deficiency 0 trials
• Corticosterone methyloxidase type 1 deficiency 0 trials
• Cortisone reductase deficiency 0 trials
  2 sub-types

  • Cortisone reductase deficiency 1 0 trials
  • Cortisone reductase deficiency 2 0 trials
• 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
• Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 0 trials
  8 sub-types

  • CHIME syndrome 0 trials
  • GM3 synthase deficiency 0 trials
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 0 trials
  • Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
  • Intellectual disability, autosomal recessive 53 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
• Lipoid proteinosis 0 trials
• Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 trials
• Pancreatic triacylglycerol lipase deficiency 0 trials
  2 sub-types

  • Combined pancreatic lipase-colipase deficiency 0 trials
  • Pancreatic colipase deficiency 0 trials