Please insert your PASSCODE (provided in the e-mail)
Please select ALL Rare Diseases/Severe Phenotypes that are present at you clinic/hospital site. Scroll down to identify all target proteins/genes/locus and click SUBMIT once survey is completed.
Severe Cholesterol Disorders
Rare, severe or extreme High-Density Lipiprotein (HDL) Disorders
Severe Triglycerides/Chylomicrons Disorders
Fatty Acid Disorders
Phospholipids Disorders
Bile Acid Disorders
Rare Diseases/Severe Phenotypes
Please select ALL Rare Diseases/Severe Phenotypes that are present at you clinic/hospital site. Scroll down to identify all target proteins/genes/locus and click SUBMIT once survey is completed.
Rare Diseases/Severe Phenotypes
Severe cholesterol Disorders
Rare, severe or extreme High-Density Lipiprotein (HDL) Disorders
Severe triglycerides/chylomicrons/ Disorders
Fatty Acid Disorders
Phospholipids Disorders
Bile Acid Disorders
Lipid Storage Disorders
Lipodystrophy
Xanthomatosis
Severe/extreme Statin or Lipid-Lowering Drug (LLD) intolerance
Other Undescribed Extreme Phenotypes
Please select phenotypes associated with Rare and Severe Cholesterol Disorders (#OMIM)
Homozygous Familial Hypercholesterolemia (143890)
Autosomal Recessive Hypercholesterolemia (ARH) (603813)
Sitosterolemia (210250)
Wolman Disease (early-onset) (278000)
Cholesteryl Ester Storage Disease (CESD) (late-onset) (278000)
Abetalipoproteinemia (200100)
Familial Combined Hypobetalipoproteinemia (615558)
Smith-Lemli-Opitz Syndrome (SLOS) (270400)
Desmosterolesis (602398)
Cholesterol 7α-hydroxylase Deficiency (118455)
Pelizaeus-Merzbacher Disease (312080)
Spastic Paraplegia 2, X-linked (312920)
Lathosterolosis (607330)
Mevalonic aciduria (610377)
Homocystinuria (236200)
Others
Please select phenotypes associated with Rare, severe or extreme High-Density Lipiprotein (HDL) Disorders (#OMIM)
Cholesteryl Ester Transfer Protein (CETP) Deficiency (143470)
Apolipoprotein C-III Deficiency (614028)
Norum Disease (245900)
Fish-eye disease (136120)
Tangier Disease (205400)
Amyloidosis (105200)
Others
Please select phenotypes associated with Severe Triglycerides/Chylomicrons Disorders (#OMIM)
Dysbetalipoproteinemia, Type III
Lipoprotein Glomerulopathy (611771)
Sea-blue Histiocyte Disease (269600)
Hyperchylomicronemia Type I (Familial Hyperchylomicronemia Syndrome) (238600)
Hyperchylomicronemia Type IB, ID, Combined Lipase Deficiency
Severe hypertriglyceridemia/chylomicronemia, Type V (144650)
Chylomicron Retention Disease (CMRD) (246700)
Others
Please select phenotypes associated with Fatty Acid Disorders (#OMIM)
3-Hydroxy-3-MethylGlutaryl-CoA Lyase (HMGCL) Deficiency (246450)
2,4-Dienoyl-CoA Reductase Deficiency (616034)
Myopathy due to CPT II Deficiency (adult-onset) (255110)
Hepatic Impairments due to CPT II Deficiency (infantile) (600649)
Carnitine-Acylcarnitine Translocase Deficiency (212138)
Carnitine Deficiency (212140)
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency (201475)
Long-Chain 3-Hydroxylacyl-CoA Dehydrogenase (HADHA) Deficiency (609016)
Multiple Acyl-CoA Dehydrogenase Deficiency (231680)
Zellweger Syndrome (214100)
Neonatal Adrenoleukodystrophy (NALD)/Infantile Refsum disease (IRD) (601539)
Severe Nonalcoholic Fatty Liver Disease (NAFLD) and NASH (613282)
Byler Disease (211600)
Refsum Disease (266500)
Stargardt Disease 3 (600110)
Spinocerebellar Ataxia 34 (133190)
Congenital ichthyosis-intellectual disability-spastic quadriplegia Syndrome (614457)
Spastic paraplegia-35 (612319)
Sjogren-Larsson syndrome (270200)
Acyl-CoA Dehydrogenase, Short-chain (ACADS) Deficiency (201470)
Others
Please select phenotypes associated with Phospholipids Disorders (#OMIM)
Gallbladder Disease 1 600803
Eosinophil Peroxidase Deficiency 261500
Sedaghatian Chondrodysplasia 250220
Hughes Syndrome 107320
Scott Syndrome 262890
Total plasma phosopholipids > 7mmol/L
Extreme Lp-PLA2 levels
Others
Please select phenotypes associated with Bile Acid Disorders (#OMIM)
Congenital Bile Acid Synthesis Defect, Type 1 (607765)
Congenital Bile Acid Synthesis Defect, Type 2 (235555)
Congenital Bile Acid Synthesis Defect, Type 3 (613812)
Congenital Bile Acid Synthesis Defect, Type 4 (214950)
Congenital Bile Acid Synthesis Defect, Type 5 (616278)
Intrahepatic Cholestasis of Pregnancy (ICP) (614972)
Primary Bile Acid Malabsorption (613291)
Others
Homozygous Familial Hypercholesterolemia (#OMIM: 143890)
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Autosomal Recessive Hypercholesterolemia (ARH) (#OMIM: 603813)
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Sitosterolemia (#OMIM 210250)
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Wolman Disease (early-onset) (#OMIM 278000)
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Cholesteryl Ester Storage Disease (CESD) (late-onset) (#OMIM 278000)
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Abetalipoproteinemia (#OMIM 200100)
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Familial Combined Hypobetalipoproteinemia (#OMIM 615558)
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Smith-Lemli-Opitz Syndrome (SLOS) (#OMIM 270400)
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Desmosterolesis (#OMIM 602398)
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Cholesterol 7α-hydroxylase Deficiency (#OMIM 118455)
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Pelizaeus-Merzbacher Disease (#OMIM 312080)
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Spastic Paraplegia 2, X-linked (#OMIM 312920
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Lathosterolosis (#OMIM 607330)
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Mevalonic aciduria (#OMIM 610377)
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Homocystinuria (#OMIM 236200)
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Other Rare Cholesterol Disorders
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Cholesteryl Ester Transfer Protein (CETP) Deficiency (#OMIM 143470)
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Apolipoprotein C-III Deficiency (#OMIM 614028)
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Norum Disease (#OMIM 245900)
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Fish-eye disease (#OMIM 136120)
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Tangier Disease (#OMIM 205400)
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Amyloidosis (#OMIM 105200)
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Other Rare, severe or extreme High-Density Lipiprotein (HDL) Disorders
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Dysbetalipoproteinemia, Type III
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Lipoprotein Glomerulopathy (#OMIM 611771)
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Sea-blue Histiocyte Disease (#OMIM 269600)
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Hyperchylomicronemia Type I (Familial Hyperchylomicronemia Syndrome) (#OMIM 238600)
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Hyperlchylomicronemia Type IB, ID, Combined Lipase Deficiency
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Severe hypertriglyceridemia/chylomicronemia, Type V (#OMIM 144650)
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Chylomicron Retention Disease (CMRD) (#OMIM 246700)
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Other Severe Triglycerides/Chylomicrons Disorders
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3-Hydroxy-3-MethylGlutaryl-CoA Lyase (HMGCL) Deficiency (#OMIM 246450)
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2,4-Dienoyl-CoA Reductase Deficiency (#OMIM 616034)
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Myopathy due to CPT II Deficiency (adult-onset) (#OMIM 255110)
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Hepatic Impairments due to CPT II Deficiency (infantile) (#OMIM 600649)
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Carnitine-Acylcarnitine Translocase Deficiency (#OMIM 212138)
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Carnitine Deficiency (#OMIM 212140)
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Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency (#OMIM 201475)
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Long-Chain 3-Hydroxylacyl-CoA Dehydrogenase (HADHA) Deficiency (#OMIM 609016)
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Multiple Acyl-CoA Dehydrogenase Deficiency (#OMIM 231680)
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Zellweger Syndrome (#OMIM 214100)
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Neonatal Adrenoleukodystrophy (NALD)/Infantile Refsum disease (IRD) (#OMIM 601539)
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Severe Nonalcoholic Fatty Liver Disease (NAFLD) and NASH (#OMIM 613282)
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Byler Disease (#OMIM 211600)
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Refsum Disease (#OMIM 266500)
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Stargardt Disease 3 (#OMIM 600110)
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Spinocerebellar Ataxia 34 (#OMIM 133190)
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Congenital ichthyosis-intellectual disability-spastic quadriplegia Syndrome (#OMIM 614457)
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Spastic paraplegia-35 (#OMIM 612319)
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Sjogren-Larsson syndrome (#OMIM 270200)
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Acyl-CoA Dehydrogenase, Short-chain (ACADS) Deficiency (#OMIM 201470)
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Other Fatty Acid Disorders
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Gallbladder Disease 1 (#OMIM 600803)
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Eosinophil Peroxidase Deficiency (#OMIM 261500)
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Sedaghatian Chondrodysplasia (#OMIM 250220)
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Hughes Syndrome (#OMIM 107320)
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Scott Syndrome (#OMIM 262890)
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Total plasma phosopholipids > 7mmol/L
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Extreme Lp-PLA2 levels
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Other Phospholipids Disorders
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Congenital Bile Acid Synthesis Defect, Type 1 (#OMIM 607765)
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Congenital Bile Acid Synthesis Defect, Type 2 (#OMIM 235555)
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Congenital Bile Acid Synthesis Defect, Type 3 (#OMIM 613812)
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Congenital Bile Acid Synthesis Defect, Type 4 (#OMIM 214950)
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Congenital Bile Acid Synthesis Defect, Type 5 (#OMIM 616278)
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Intrahepatic Cholestasis of Pregnancy (ICP) (#OMIM 614972)
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Primary Bile Acid Malabsorption (#OMIM 613291)
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Other Bile Acid Disorders
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SUBMIT
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