Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Obesity, Hypercholesterolemia |
OMIM:608320 |
Cholesterol-Ester Transfer Protein Deficiency |
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Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Enterokinase Deficiency |
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Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia |
OMIM:301033 |
Morbid Obesity And Spermatogenic Failure |
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Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia, Abnormal hair morphology, Prominent floating ribs |
OMIM:152800 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Congenital Analbuminemia |
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Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... |
ORPHA:86816 |
Analbuminemia |
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Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Gaisböck Syndrome |
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Hyperuricemia, Increased circulating renin level, Obesity, Overweight, Hypercholesterolemia, Hype... |
ORPHA:90041 |
Multiple Myeloma |
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Weight loss, Vertebral compression fracture, Hypercalcemia, Elevated circulating creatinine conce... |
ORPHA:29073 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Growth Hormone Insensitivity Syndrome |
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Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypocalcemia, Hypertriglyceridemia, Hirsutism, Hypercholesterolemia |
OMIM:612526 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Abnormal hair quantity, Hypoproteinemia |
ORPHA:1116 |
Ataxia-Oculomotor Apraxia 4 |
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Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia |
OMIM:616267 |
Nephrotic Syndrome, Type 1 |
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Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Congenital Disorder Of Glycosylation, Type Iio |
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Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Hypercholesterolemia, Familial, 3 |
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Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Obesity, Scoliosis, Hypercholesterolemia |
ORPHA:254531 |
Hemophagocytic Syndrome Associated With An Infection |
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Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Temple Syndrome |
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Small for gestational age, Obesity, Truncal obesity, Overweight, Scoliosis, Hypercholesterolemia,... |
OMIM:616222 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Cervical kyphosis, Short neck, Hypercholesterolemia, Highly arched eyebrow, Thick hair |
ORPHA:401923 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased total bilirubin, Increased VLDL cholesterol concentration, Failure to thrive, Increased... |
OMIM:267700 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... |
OMIM:605814 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Galactokinase Deficiency |
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Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... |
ORPHA:79237 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypercholesterolemia, Hypoalbuminemia, Scoliosis, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... |
OMIM:615812 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Hypercholesterolemia, Small for gestational age, Scoliosis, Truncal obesity, Obesity |
ORPHA:96184 |
Immunodeficiency 43 |
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Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Ménétrier Disease |
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Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Morgagni-Stewart-Morel Syndrome |
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Hyperuricemia, Hirsutism, Hypercholesterolemia |
ORPHA:77296 |
Laron Syndrome |
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Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Refractory Celiac Disease |
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Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Increased circulating free fatty acid level, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Cog4-Cdg |
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Thick hair, Hypercholesterolemia |
ORPHA:263501 |
Smith-Magenis Syndrome |
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Increased body weight, Hypertriglyceridemia, Scoliosis, Hypercholesterolemia |
OMIM:182290 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased total bilirubin, Failure to thrive, Increased circulating ferritin concentration, Hypop... |
OMIM:603553 |
Congenital Generalized Lipodystrophy |
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Hypercholesterolemia, Increased C-peptide level, Polycystic ovaries, Low posterior hairline, Hype... |
ORPHA:528 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia |
ORPHA:209902 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated circulating alpha-fetoprotein concentration, Bile duct proliferation, Increased serum bi... |
OMIM:619662 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Primary Intestinal Lymphangiectasia |
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Weight loss, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Pancreatic lymphangiectasis, Hypoproteinemia, Short neck, Cryptorchidism, Hypocalcemia, Hypertric... |
OMIM:235255 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Nephrotic Syndrome, Type 11 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Congenital Disorder Of Glycosylation, Type Ij |
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Hypoproteinemia, Cryptorchidism |
OMIM:608093 |
Hyperlipoproteinemia, Type I |
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Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Smith-Magenis Syndrome |
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Obesity, Scoliosis, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Abn... |
ORPHA:819 |
Dysbetalipoproteinemia |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Xanthe... |
ORPHA:412 |
Johanson-Blizzard Syndrome |
|
Alopecia, Hypoproteinemia, Abnormal hair pattern |
ORPHA:2315 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Decreased testicular size, Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia |
OMIM:610644 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Failure to thrive, Hypoproteinemia, Scoliosis, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Mandibuloacral Dysplasia |
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Alopecia, Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:2457 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:278000 |
Omenn Syndrome |
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Alopecia, Hypoproteinemia, Hypoplasia of the thymus |
OMIM:603554 |
Ataxia With Vitamin E Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Hypoproteinemia, Short neck, Cryptorchidism, Hypocalcemia, Hypertric... |
ORPHA:1655 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Galloway-Mowat Syndrome 7 |
|
Kyphoscoliosis, Hypercholesterolemia |
OMIM:618348 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Hypercholesterolemia |
ORPHA:2479 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Megalocornea-Mental Retardation Syndrome |
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Low anterior hairline, Hypercholesterolemia |
OMIM:249310 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Abnormal circu... |
ORPHA:90674 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Absent eyelashes, Alopecia universalis, Absent eyebrow, Hypercholester... |
ORPHA:363618 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of hair, Incre... |
ORPHA:167 |
Lipodystrophy, Familial Partial, Type 2 |
|
Polycystic ovaries, Hirsutism, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hyp... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Sparse scalp hair, Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Lysosomal Acid Lipase Deficiency |
|
Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthelasma, Hypercholestero... |
ORPHA:275761 |
Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste... |
ORPHA:470 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Kyphosis, Elevated amniotic fluid alpha-fetoprotein, E... |
OMIM:309000 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Hypercholesterolemia |
OMIM:619471 |
Alagille Syndrome 1 |
|
Butterfly vertebral arch, Failure to thrive, Hypercholesterolemia, Abnormal rib morphology, Hemiv... |
OMIM:118450 |
Immunodeficiency 47 |
|
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Sparse scalp hair, Hyponatremia, Kyphosis, Hypokalemia, Hypophosphatemia, Fin... |
ORPHA:534 |
Liver Disease, Severe Congenital |
|
Pancreatic hypoplasia, Dry hair, Hyperalaninemia, Biliary hyperplasia, Elevated hepatic iron conc... |
OMIM:619991 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyc... |
ORPHA:79259 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Failure to thrive, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Steinert Myotonic Dystrophy |
|
Alopecia, Decreased response to growth hormone stimulation test, Secondary hyperparathyroidism, O... |
ORPHA:273 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoproteinemia |
ORPHA:2929 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Hypercholest... |
OMIM:619534 |