Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Analbuminemia |
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Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Erythroderma, Lethal Congenital |
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Hypoalbuminemia |
OMIM:227090 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
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Increased bone mineral density |
OMIM:250500 |
Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
Nephrotic Syndrome, Type 2 |
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Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Pyknoachondrogenesis |
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Increased bone mineral density |
OMIM:265880 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... |
OMIM:241520 |
Melorheostosis, Isolated |
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Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Diarrhea 13 |
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Hypoalbuminemia |
OMIM:620357 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
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Hypoalbuminemia |
OMIM:614131 |
Phoar2-Enteropathy Syndrome |
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Hyperostosis, Hypoalbuminemia, Periostosis |
OMIM:614441 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
Chylomicron Retention Disease |
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Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
Coenzyme Q10 Deficiency, Primary, 3 |
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Hypoalbuminemia |
OMIM:614652 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Nephrotic Syndrome, Type 7 |
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Hypoalbuminemia |
OMIM:615008 |
Immunodeficiency 115 With Autoinflammation |
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Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... |
OMIM:620632 |
Congenital Lethal Erythroderma |
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Hypoalbuminemia |
ORPHA:1954 |
Focal Segmental Glomerulosclerosis 1 |
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Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Nephrotic Syndrome, Type 3 |
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Hypoalbuminemia |
OMIM:610725 |
Axial Osteomalacia |
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Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Fibronectin Glomerulopathy |
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Hypoalbuminemia |
ORPHA:84090 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Primary Membranoproliferative Glomerulonephritis |
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Hypoalbuminemia |
ORPHA:54370 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Joint hypermobility, Hypoalbuminemia, Hypertriglyceridemia |
OMIM:619013 |
Galloway-Mowat Syndrome 8 |
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Hypoalbuminemia |
OMIM:618349 |
Alg1-Cdg |
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Hypoalbuminemia, Limitation of joint mobility |
ORPHA:79327 |
Refractory Celiac Disease |
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Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
Ataxia-Oculomotor Apraxia 4 |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Autoinflammation With Infantile Enterocolitis |
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Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... |
OMIM:616050 |
Immunodeficiency 43 |
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Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Salmonella osteomyelitis |
OMIM:209950 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Nephrotic Syndrome, Type 1 |
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Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly |
OMIM:608104 |
Macrophage Activation Syndrome |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Juv... |
ORPHA:158061 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Refractory Anemia With Excess Blasts |
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Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Citrullinemia Type Ii |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Generalized Pustular Psoriasis |
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Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp... |
ORPHA:247353 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Congenital Disorder Of Glycosylation, Type Il |
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Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hypermobility, Hypoalb... |
OMIM:617093 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hypoalbuminemia, Flexion contracture |
ORPHA:367 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Septic arthritis, Hy... |
ORPHA:36234 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration |
ORPHA:540 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hypoalbuminemia, Hypocholesterolemia, Flexion contracture |
OMIM:212065 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased circulating carnitine concentration, Decreased circulating iron concentration, Flexion ... |
ORPHA:89842 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abn... |
ORPHA:14 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Osteoporosis |
OMIM:619487 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Flexion contracture |
OMIM:617303 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Alg12-Cdg |
|
Abnormal bone ossification, Camptodactyly, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Hypoalbuminemia, Camptodactyly, Joint contracture of the hand |
OMIM:235510 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... |
ORPHA:37042 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... |
OMIM:617156 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... |
OMIM:613658 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Osteomalacia... |
OMIM:277900 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... |
ORPHA:186 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Al Amyloidosis |
|
Hypoalbuminemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Camptodactyly, Joint contracture of the hand |
OMIM:251300 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Osteoarthritis, Abnormal circulati... |
ORPHA:2298 |
Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... |
OMIM:222470 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Hypoalbuminemia, Flexion contracture |
ORPHA:505248 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... |
ORPHA:90363 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Hypoalbuminemia |
ORPHA:79396 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Hypoalbuminemia, Osteoporosis |
ORPHA:171 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Osteomalacia, Hy... |
OMIM:619381 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Arthritis, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hype... |
ORPHA:99826 |
Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Ep... |
OMIM:270400 |
Kawasaki Disease |
|
Arthritis, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2331 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Joint hypermobility, Hypoalbuminem... |
OMIM:619534 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
|
Osteopenia, Reduced thyroxin-binding globulin, Osteoporosis, Joint hypermobility, Hypoalbuminemia... |
ORPHA:79318 |