| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased total bilirubin |
OMIM:616299 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... |
ORPHA:79303 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,... |
OMIM:251880 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea |
ORPHA:2070 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa... |
OMIM:227810 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Aminoaciduria |
OMIM:613404 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Aminoaciduria |
OMIM:208085 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Aminoaciduria, Hypoalbuminemia, ... |
OMIM:277900 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... |
ORPHA:261337 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
| Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
| Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
| Fumarase Deficiency |
|
Aminoaciduria, Hyperbilirubinemia |
OMIM:606812 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... |
OMIM:617660 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Xanthelasma |
ORPHA:30391 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Complete at... |
ORPHA:508488 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul... |
OMIM:614866 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
| Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis |
OMIM:222470 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... |
ORPHA:2298 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... |
OMIM:620186 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
| Ogden Syndrome |
|
Hyperbilirubinemia |
OMIM:300855 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Aminoaciduria, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hy... |
ORPHA:534 |
| Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... |
ORPHA:79277 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Decreased circulating cortisol level |
OMIM:620305 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
| Hardikar Syndrome |
|
Hyperbilirubinemia |
OMIM:301068 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia |
OMIM:210710 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
| Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Branchiooculofacial Syndrome |
|
Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula |
OMIM:613406 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... |
ORPHA:798 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Cystic hygroma |
OMIM:617866 |
| Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Hypoalbuminemia |
ORPHA:79318 |
| Cranioectodermal Dysplasia |
|
|
ORPHA:1515 |
| Cranioectodermal Dysplasia 3 |
|
|
OMIM:614099 |
| Retinitis Pigmentosa 81 |
|
|
OMIM:617871 |
