Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia |
OMIM:613752 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... |
OMIM:209950 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess, Hypoproteinemia, Decreased ci... |
OMIM:241600 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... |
ORPHA:507 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop... |
ORPHA:540 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... |
OMIM:242150 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:88618 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... |
ORPHA:1667 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Anemia, Hypoalbuminemia |
OMIM:174900 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:367 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... |
OMIM:251880 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Increased circulating metamyelocyte count, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia |
OMIM:617303 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulato... |
ORPHA:37042 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Anemia, Hemolytic anemia, Hypoalbuminemia |
OMIM:619487 |
Al Amyloidosis |
|
Anemia, Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... |
ORPHA:89842 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... |
ORPHA:14 |
Hepatocellular Carcinoma |
|
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, Thrombocytos... |
ORPHA:88673 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia |
OMIM:212065 |
Wilson Disease |
|
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia |
ORPHA:79324 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia, Hypochole... |
ORPHA:90363 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, Increased mean platele... |
OMIM:222470 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia |
ORPHA:505248 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Lym... |
ORPHA:99826 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Hypoalbuminemia |
ORPHA:79396 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia |
ORPHA:79076 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia |
ORPHA:171 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:619381 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia |
OMIM:270400 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Impaired neutrophil chemotaxis, Hypoalbuminemia |
ORPHA:79318 |