Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration |
OMIM:619836 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... |
OMIM:615234 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Spl... |
OMIM:616860 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... |
ORPHA:811 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In... |
OMIM:242150 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Steatorrhea |
ORPHA:2070 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... |
ORPHA:88618 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity |
OMIM:615924 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... |
ORPHA:14 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Phenylketonuria |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hyperphenylalaninemia, Maternal hyperphe... |
OMIM:261600 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
Castleman Disease |
|
Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Elevated circulating C-reactive prot... |
ORPHA:160 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:619055 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... |
ORPHA:89842 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia |
OMIM:619487 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Eisenmenger Syndrome |
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Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... |
ORPHA:97214 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... |
ORPHA:760 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... |
ORPHA:37042 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity |
OMIM:612716 |
Xfe Progeroid Syndrome |
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Hypoalbuminemia |
OMIM:610965 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hypouricemia, Hypoalbuminemia, De... |
OMIM:277900 |
Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating fatty-acid concentration, Abnormal cir... |
ORPHA:2298 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypomagnesemia, Hypokalemia, Hyperactivity |
OMIM:618314 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia |
OMIM:222470 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... |
ORPHA:330015 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99826 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Immunodeficiency 82 With Systemic Inflammation |
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Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia |
OMIM:619381 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... |
OMIM:619534 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Hypoalbuminemia |
ORPHA:79318 |