| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Truncal ataxia, Tremor, Elevated circulating creatine kinase concentration, Cognitiv... |
OMIM:208920 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Immunodeficiency 115 With Autoinflammation |
|
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... |
OMIM:620632 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Anemia |
OMIM:603278 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... |
OMIM:619868 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hyp... |
OMIM:616267 |
| 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 |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... |
ORPHA:284454 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... |
OMIM:616050 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Ataxia... |
ORPHA:64753 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia, Broad-based gait |
OMIM:618805 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt... |
OMIM:267700 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Immunodeficiency 27A |
|
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... |
OMIM:209950 |
| 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 |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... |
OMIM:226990 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Intention tremor, Action tremor, Gait ataxia, Thrombocytopenia, Unsteady gai... |
OMIM:254900 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Leishmaniasis |
|
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,... |
ORPHA:507 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... |
ORPHA:247585 |
| Refractory Celiac Disease |
|
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... |
ORPHA:398063 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia, Retinal degeneration, Rod-cone ... |
ORPHA:79320 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... |
OMIM:308240 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... |
OMIM:603553 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi... |
OMIM:617021 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Cherubism |
|
Marcus Gunn pupil, Macular scar, Optic neuropathy |
OMIM:118400 |
| Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia |
OMIM:246700 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated circ... |
ORPHA:158061 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Saccharopinuria |
|
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Cognitive impai... |
ORPHA:3124 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... |
ORPHA:103910 |
| Immunodeficiency 43 |
|
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... |
OMIM:241600 |
| Hepatoportal Sclerosis |
|
Anemia, Hyperbilirubinemia, Cognitive impairment, Thrombocytopenia, Leukopenia, Splenomegaly, Hyp... |
ORPHA:64743 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Congenital Enterovirus Infection |
|
Irritability, Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, T... |
ORPHA:292 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Reni Syndrome |
|
Hypertriglyceridemia, Ataxia, Lymphopenia, Hypoalbuminemia, Mental deterioration |
OMIM:617575 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia |
OMIM:608104 |
| Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal h... |
ORPHA:848 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Wolcott-Rallison Syndrome |
|
Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hy... |
ORPHA:1667 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... |
ORPHA:90362 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529799 |
| Abetalipoproteinemia |
|
Steppage gait, Decreased HDL cholesterol concentration, Anemia, Broad-based gait, Hypotriglycerid... |
ORPHA:14 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... |
ORPHA:540 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Anemia, Inability to walk, Chorioretinal hypopigmentation, Thrombocytopenia, Leuko... |
OMIM:617303 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Hypoalbuminemia |
ORPHA:656 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Hepatosplen... |
ORPHA:846 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Irritability, Anemia, Chorioretinal atrophy, Dystonia, Hepatosplenomegaly, Hypoalb... |
OMIM:619487 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
| Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... |
OMIM:242150 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... |
ORPHA:247353 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Chorioretinal hyperpigmentation, Hyperalaninemia, Progressive neurologic deteriora... |
OMIM:618329 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased circulating carnitine concentration, Depression, Decreased circulating iron con... |
ORPHA:89842 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Intention tremor, Ataxia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-cone ... |
OMIM:212065 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Anemia, Leukocytosis |
ORPHA:67 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Confusion, Increased circulating myelocyte count, Elevated circulating creatine kin... |
ORPHA:36234 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... |
ORPHA:37042 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Wilson Disease |
|
Anemia, Decreased circulating ceruloplasmin concentration, High nonceruloplasmin-bound serum copp... |
OMIM:277900 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... |
OMIM:251880 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Hypoalbuminemia, Anemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Anemia, Inability to walk, Abnormality of retinal pigmentation, Thrombocytopenia, ... |
ORPHA:505248 |
| Hereditary Methemoglobinemia |
|
Athetosis, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia |
OMIM:250800 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypergalactosemia, Cognitive impairment, Increased mean platelet... |
OMIM:222470 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Lethargy, Hypoalbuminemia, H... |
OMIM:617156 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc |
OMIM:617093 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Neutrophilia in presence of infection, Confusion, Abnormal lymphocyte morphology, Hy... |
ORPHA:99826 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Alg12-Cdg |
|
Retinal detachment, B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypochole... |
ORPHA:79324 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels |
OMIM:610965 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoalbuminemia, Dystonia, Ataxia |
OMIM:251300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Refractory anemia, Anemia |
ORPHA:79076 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Thrombocytopenia, Leukopenia, Abno... |
ORPHA:2298 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Broad-based gait, Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:263400 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... |
ORPHA:231222 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait |
OMIM:617101 |
| Dominant Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corp... |
ORPHA:231226 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia... |
ORPHA:231214 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbumi... |
ORPHA:186 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Kawasaki Disease |
|
Irritability, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2331 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
| Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Memory impairment, D... |
ORPHA:330015 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decreased propo... |
OMIM:619381 |
| Acquired Methemoglobinemia |
|
Confusion, Methemoglobinemia |
ORPHA:464453 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Primary Sclerosing Cholangitis |
|
Depression, Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly |
ORPHA:171 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sp... |
OMIM:270400 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, Increased mean ... |
OMIM:617052 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Depression, Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... |
OMIM:619534 |
| Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Hypoalbuminemia, Splenomegaly |
ORPHA:75565 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Pmm2-Cdg |
|
Photoreceptor layer loss on macular OCT, Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminem... |
ORPHA:79318 |
| Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
