| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Mental deterioratio... |
OMIM:208920 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... |
OMIM:616267 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
ORPHA:94124 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia |
OMIM:607250 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
| Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Alg6-Cdg |
|
Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal deg... |
ORPHA:79320 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
| Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circul... |
ORPHA:3124 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Cognitive i... |
ORPHA:64743 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H... |
ORPHA:292 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Mental deterioration, Lymphopenia |
OMIM:617575 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Abnormality of iron h... |
ORPHA:848 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Difficulty ... |
ORPHA:1667 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Abetalipoproteinemia |
|
Reticulocytosis, Broad-based gait, Decreased HDL cholesterol concentration, Ataxia, Hypopigmentat... |
ORPHA:14 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretinal hypop... |
OMIM:617303 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Chorioretinal atrophy, Optic atrophy, Hepatosplenomegaly, Irritability, Hypoalb... |
OMIM:619487 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| 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 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... |
OMIM:277900 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbumin... |
OMIM:618329 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| 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 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Depression, Decreased serum zi... |
ORPHA:89842 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-cone dystrop... |
OMIM:212065 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Confusion, Elevated circulating creatinine co... |
ORPHA:36234 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... |
ORPHA:37042 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia |
ORPHA:85443 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Thrombocytopenia, Optic atrophy, Hepatosp... |
ORPHA:505248 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ... |
OMIM:222470 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thromb... |
ORPHA:79324 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels |
OMIM:610965 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Ataxia, Hypoalbuminemia, Dystonia |
OMIM:251300 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Leukopen... |
ORPHA:2298 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression, Hypoalbuminemia, Hi... |
ORPHA:171 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Confusion |
ORPHA:464453 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... |
OMIM:270400 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... |
ORPHA:124 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:619534 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hypoalbuminemia, Eosinophilia |
ORPHA:75565 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Pmm2-Cdg |
|
Ataxia, Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis, Photo... |
ORPHA:79318 |
