| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
| Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... |
OMIM:618883 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... |
OMIM:616860 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Diarrhea 13 |
|
Hypoalbuminemia, Recurrent hypoglycemia |
OMIM:620357 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, E... |
OMIM:615234 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:203330 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Congenital hypothyroidism |
ORPHA:88643 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia |
OMIM:619073 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Anemia, Hyperlipidemia |
OMIM:603278 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia |
OMIM:613752 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... |
ORPHA:324575 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... |
ORPHA:300298 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... |
ORPHA:94090 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276575 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... |
ORPHA:276580 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... |
OMIM:617872 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:71529 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Hypertri... |
OMIM:619013 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Dent Disease 2 |
|
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyper... |
OMIM:277410 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo... |
OMIM:603233 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:246700 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... |
ORPHA:94086 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Glycosuria, Aminoaciduria |
OMIM:618913 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... |
ORPHA:507 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce... |
ORPHA:99879 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... |
OMIM:146200 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa... |
ORPHA:157215 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Decreased circulating T4 concentr... |
OMIM:608104 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa... |
OMIM:612089 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca... |
ORPHA:276556 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Elevated circulating parathyroid hormone level, Splenomegaly, Hypophosphatemia, Ca... |
OMIM:239200 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Hypophosphatemia, Glycosuria |
OMIM:308990 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Puberty and gonadal disorders, Increase... |
ORPHA:79320 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... |
ORPHA:158061 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia |
OMIM:617056 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Hypothyroidism, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... |
ORPHA:1667 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level |
OMIM:618618 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Abnormal blood phosphate concentration, Abnormal circulating calcium concentration, Decreased cir... |
OMIM:610455 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618347 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... |
ORPHA:231222 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529799 |
| Cystinosis |
|
Aminoaciduria, Type I diabetes mellitus, Hypokalemia, Hypothyroidism, Hypophosphatemia, Delayed p... |
ORPHA:213 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Hypophosphatemia, Elevated circulating parathyroid hormone level, Glyc... |
OMIM:613388 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia |
OMIM:620366 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism, ... |
OMIM:617575 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Glycosuria, Aminoaciduria |
OMIM:134600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia |
OMIM:256300 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Galactokinase Deficiency |
|
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... |
ORPHA:79237 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... |
ORPHA:292 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Thrombocytop... |
ORPHA:848 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Glycosuria, Hypophosphatemia, Fasting hypo... |
ORPHA:2088 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinem... |
OMIM:227810 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Hepatosplenomegaly, Hypophosphatemic rickets, Hyp... |
OMIM:307800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophos... |
OMIM:264700 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Le... |
ORPHA:289157 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... |
ORPHA:263455 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Hypopituit... |
ORPHA:811 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Decreased circulating parathyroid h... |
OMIM:241530 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia |
OMIM:605911 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Transient hypophosphatemia, Anemia |
OMIM:127000 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... |
ORPHA:540 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... |
ORPHA:71526 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... |
ORPHA:247353 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... |
OMIM:612462 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Hyperlipidemia, Acute... |
ORPHA:247585 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus |
OMIM:616033 |
| Avian Influenza |
|
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... |
OMIM:619326 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic ane... |
ORPHA:37042 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... |
OMIM:251880 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... |
ORPHA:71212 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia, Elevated circulating parathyroid hormone level, Secondar... |
OMIM:277440 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia |
OMIM:617093 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... |
OMIM:301110 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... |
ORPHA:88618 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Hypocalce... |
ORPHA:411634 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:363400 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism |
OMIM:600740 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia |
ORPHA:469 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Anemia, Leukocytosis |
ORPHA:67 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert... |
ORPHA:528 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration |
OMIM:615508 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:94089 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria |
OMIM:615605 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Aminoaciduria, Hypoglycemia, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... |
OMIM:619313 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Hyperthyroidism... |
ORPHA:79102 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia |
OMIM:617303 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... |
OMIM:617156 |
| Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Pancytopenia, ... |
ORPHA:699 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic... |
ORPHA:36913 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decrea... |
ORPHA:367 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri... |
ORPHA:3337 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Dent Disease 1 |
|
Aminoaciduria, Hypophosphatemia, Glycosuria |
OMIM:300009 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Abno... |
ORPHA:411629 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet... |
OMIM:103580 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Decreased HDL cholesterol concentration... |
OMIM:618885 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia |
ORPHA:275555 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatosplenomegaly, Hypothyroidism, Anemia, Hemolytic anemia |
OMIM:619487 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Anemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu... |
ORPHA:249 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... |
OMIM:617994 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Decreased circulating carnitine conc... |
OMIM:219800 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita... |
OMIM:241410 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia, Hypoglycemia |
OMIM:618329 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... |
ORPHA:79324 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophospha... |
OMIM:229600 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hemolytic anemia, Hyperbilirubinemia, S... |
OMIM:277900 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevated circulating follicle stimu... |
OMIM:620501 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro... |
OMIM:222470 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Hypothyroidism, Thrombocytosis, Hypergonadotropic hypogonadism |
OMIM:212065 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... |
ORPHA:90795 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... |
ORPHA:90793 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati... |
ORPHA:99826 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l... |
ORPHA:231632 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Abnormal parathyroid morphology, Thyroid carcinom... |
ORPHA:99880 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stimulating hormone concent... |
ORPHA:93325 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Splenomegaly, Elevated circulating creatine kinase concentr... |
OMIM:613327 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... |
ORPHA:769 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteric cyst |
ORPHA:314473 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parathyroid morph... |
ORPHA:143 |
| Castleman Disease |
|
Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,... |
ORPHA:160 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone con... |
ORPHA:534 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Neoplasm of... |
ORPHA:231625 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
| Dent Disease |
|
Renal hypophosphatemia, Glycosuria, Aminoaciduria, Elevated circulating creatine kinase concentra... |
ORPHA:1652 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase conc... |
ORPHA:171 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia |
ORPHA:505248 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Anemia, Refractory anemia |
ORPHA:79076 |
| Donohue Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, ... |
ORPHA:320 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypoglycemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia |
OMIM:239000 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Thyroid lymphangiectasia |
OMIM:235510 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... |
OMIM:202010 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... |
OMIM:250790 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... |
ORPHA:97214 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circul... |
ORPHA:85450 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased... |
OMIM:608836 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:79444 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated circu... |
OMIM:101800 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Lymphopenia, Decreased testicular size, Leukopenia, Cryptorchidism, Hy... |
OMIM:617053 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... |
OMIM:619381 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Compensated hypothyroidism, Nor... |
ORPHA:247691 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Hypertriglyceridemia, Elevated hemoglo... |
OMIM:269700 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus |
ORPHA:439232 |
| Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
| Prader-Willi Syndrome |
|
Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone... |
OMIM:176270 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:79443 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... |
ORPHA:314478 |
| Atelis Syndrome 2 |
|
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... |
OMIM:620185 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... |
OMIM:154230 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Kawasaki Disease |
|
Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia |
ORPHA:2331 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Hashimoto thyroiditis, Increase... |
ORPHA:49041 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... |
ORPHA:508 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Decreased circulating o... |
ORPHA:330015 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Splenomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus at pube... |
OMIM:608594 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Elevated circ... |
OMIM:248250 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... |
ORPHA:340 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Precocious puberty, Hypocholesterolemia, Elevated circulating 7-dehydrocholester... |
OMIM:270400 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypo... |
OMIM:619991 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:137920 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... |
ORPHA:79474 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... |
ORPHA:273 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Leukemia, Pure r... |
ORPHA:99867 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration |
ORPHA:730 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Eosinophilia, Splenomegaly |
ORPHA:75565 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi... |
ORPHA:449395 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocr... |
ORPHA:91500 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Insulin resistance, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:79318 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Cer... |
ORPHA:722 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99413 |
| Turner Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri... |
ORPHA:99226 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... |
OMIM:201750 |
| Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,... |
ORPHA:2968 |
| Alkaptonuria |
|
Aminoaciduria, Methemoglobinemia, Hypothyroidism, Hemolytic anemia |
ORPHA:56 |
| Alström Syndrome |
|
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly... |
ORPHA:744 |
| Extraoral Halitosis Due To Methanethiol Oxidase Deficiency |
|
|
OMIM:618148 |
