Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Focal Segmental Glomerulosclerosis 1 |
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Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... |
OMIM:208920 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... |
ORPHA:507 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Reni Syndrome |
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Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental deterioration, Microp... |
OMIM:617575 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism |
OMIM:619013 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Macrophage Activation Syndrome |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Ataxia-Oculomotor Apraxia 4 |
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Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote... |
OMIM:616267 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... |
ORPHA:247585 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased response to growth hormone stimulation test |
OMIM:618347 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... |
ORPHA:64743 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Congenital Disorder Of Glycosylation, Type Ih |
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Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Thrombocy... |
OMIM:608104 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... |
ORPHA:292 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
ORPHA:540 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Bile duct proliferation, Hypoalbuminemia, Progressive neurologic deterioration |
OMIM:618329 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatosplenomegaly, Irritability, Hypoalbuminemia, Micropenis, Anemia |
OMIM:619487 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Neutropenia, Thro... |
OMIM:617303 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Confusion, Elevated circulating creatinine co... |
ORPHA:36234 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Depression, Decreased serum zi... |
ORPHA:89842 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouric... |
OMIM:277900 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,... |
OMIM:222470 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Mental deterioration, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... |
ORPHA:2298 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Abnormal sal... |
ORPHA:85443 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Cryptorchidism, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemi... |
ORPHA:79324 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hypergonadotropic hypogonadism, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Hypoalbuminemia |
OMIM:235510 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Bone marrow hypocellularity, Thrombocyto... |
ORPHA:505248 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Hypoalbuminemia, Ne... |
ORPHA:171 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Sp... |
OMIM:270400 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia, Freckled genitalia |
ORPHA:79076 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small scrotum, Bile duct proliferation, Hypocalcemia, Hypoalbuminemia, Unconjugated... |
OMIM:613658 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating... |
OMIM:619534 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O... |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Impaired neutro... |
ORPHA:79318 |