Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... |
OMIM:262700 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Pallor, Decreased hemoglobin concentration,... |
OMIM:266200 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... |
ORPHA:848 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... |
ORPHA:90064 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... |
OMIM:600462 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... |
ORPHA:507 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Elevated ... |
ORPHA:98870 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... |
OMIM:262600 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... |
OMIM:611590 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Short stature, Pallor, Paroxysmal atrial tachycardia, Ventricular septal de... |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... |
OMIM:252011 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... |
ORPHA:277 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly |
OMIM:232700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis |
OMIM:617872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... |
ORPHA:3226 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Pallor, Weakness... |
ORPHA:536516 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... |
ORPHA:331206 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Aplasia/Hypoplasia of the abdominal wall musculature, E... |
ORPHA:3099 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Splenomegaly |
ORPHA:90037 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia,... |
OMIM:611490 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypogonadism, Dia... |
ORPHA:181393 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... |
OMIM:557000 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor, Spasticity of facial muscles |
OMIM:606353 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... |
OMIM:600802 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Purpura, Asplenia, Short stature |
ORPHA:3204 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:295 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
American Trypanosomiasis |
|
Pallor, Arrhythmia, Myocarditis, Achalasia, Cardiomyopathy, Congestive heart failure |
ORPHA:3386 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... |
OMIM:224120 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis,... |
ORPHA:199296 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Purpura, Neutropenia, Anemia |
OMIM:604250 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Anemia, Thrombocytopenia |
ORPHA:101028 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... |
OMIM:619167 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Jaundice |
OMIM:617156 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia |
OMIM:618116 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... |
OMIM:231100 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, N... |
ORPHA:90051 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenome... |
OMIM:612840 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly |
ORPHA:35 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Short stature, Pancytopenia |
OMIM:616435 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Senior-Loken Syndrome 8 |
|
Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... |
ORPHA:263455 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... |
ORPHA:86839 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short stature, Pallor, Ventricular septal defect, Patent foramen ovale, Int... |
OMIM:609053 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... |
OMIM:613027 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Acute pancreat... |
ORPHA:20 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia |
ORPHA:33226 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Petechiae, Neutropenia |
OMIM:616216 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Growth delay, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death |
OMIM:618835 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Rh Deficiency Syndrome |
|
Hypochromia, Jaundice, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemoly... |
ORPHA:71275 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Anemia, Intrauterine growth retardation, Neonatal death |
OMIM:618839 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemia, Anemic pallor |
ORPHA:329971 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Short stature, Persistence of hemoglobin F, Pallo... |
ORPHA:124 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Normo... |
OMIM:611881 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:348 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Beta-Ketothiolase Deficiency |
|
Pallor, Thrombocytosis, Hepatomegaly, Leukocytosis |
ORPHA:134 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... |
OMIM:600901 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pallor, Tachycardia, Junctional ect... |
ORPHA:137675 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Pituitary Stalk Interruption Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Hypoglycemia,... |
ORPHA:95496 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Intr... |
OMIM:227645 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti... |
OMIM:227650 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Eosi... |
ORPHA:3260 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia, Hepatic steatosis, In... |
OMIM:261680 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Pallor, Increased variability in muscle fiber diameter, Distal amyotrophy, Growth ... |
OMIM:617675 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Rare Circulatory System Disease |
|
Intermittent claudication, Pallor, Elbow flexion contracture |
ORPHA:98028 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Short stature, Pallor, Thrombocytosis, Neutropenia, Thrombocytopen... |
OMIM:105650 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Pallor, Palpitations, Arrhythmia, Myocarditis, Myocardial inf... |
ORPHA:892 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Pallor, Arrhythmia, Cardiac conduction abnormality, Facial hypotonia, Cardiomyop... |
ORPHA:2131 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Short stature, Neutropenia |
OMIM:617243 |
Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anem... |
OMIM:227646 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pallor, Growth delay, Anemia |
ORPHA:667 |
Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... |
ORPHA:99125 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Degcags Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Pallor, Leukopenia, Abnormal spleen morphology, Hepa... |
OMIM:619488 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pallor, Palpitations, Ventricular arrhythmia, Hypotension, Delayed p... |
ORPHA:91347 |
Incontinentia Pigmenti |
|
Leukocytosis, Short stature, Pallor, Eosinophilia, Erythema |
OMIM:308300 |
Prolactinoma |
|
Delayed puberty, Pallor, Hypotension |
ORPHA:2965 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Pallor, Hemolytic anemia, Thrombocytopenia |
ORPHA:544482 |
Kasabach-Merritt Syndrome |
|
Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpura, Neutropenia, Microangiopathi... |
ORPHA:2330 |
Hereditary Orotic Aciduria |
|
Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Pallor, Palpitations, Hypertensive crisis, Proxima... |
ORPHA:653 |
Esophageal Atresia |
|
Ventricular septal defect, Growth delay, Pallor, Tetralogy of Fallot |
ORPHA:1199 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... |
ORPHA:391665 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly, Pancytopenia |
OMIM:181000 |
Visceral Steatosis, Congenital |
|
Myocardial steatosis, Neonatal death |
OMIM:228100 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |