| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase |
OMIM:306000 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... |
OMIM:232700 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... |
OMIM:136120 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... |
OMIM:603552 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... |
OMIM:614480 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... |
ORPHA:766 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... |
OMIM:267700 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... |
OMIM:616860 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Abnormal circulating lipid concentration |
OMIM:615238 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Sple... |
OMIM:607616 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Pneumonia, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Ab... |
OMIM:209950 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... |
ORPHA:507 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... |
OMIM:618805 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... |
OMIM:605814 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... |
OMIM:616050 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent sinusitis, Thrombocytop... |
OMIM:613101 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... |
OMIM:603553 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Apolipoprotein A-I Deficiency |
|
Corneal opacity, Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of th... |
ORPHA:425 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate... |
OMIM:613313 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Restrictive ventilatory defect, Elevated hepatic transaminase, Microcytic anemia, Hepatic steatos... |
OMIM:619013 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... |
ORPHA:1667 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hyperuricemia, Respiratory insufficiency, Pulmonary arterial hypertension, Thromboc... |
OMIM:613845 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He... |
OMIM:612526 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... |
OMIM:210250 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Pulmonary arterial hypertension... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function,... |
OMIM:608104 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... |
OMIM:616828 |
| Legionnaires Disease |
|
Restrictive ventilatory defect, Arrhythmia, Endocarditis, Pericarditis, Hypotension, Myocarditis,... |
ORPHA:549 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... |
OMIM:616516 |
| Whipple Disease |
|
Pericarditis, Gastrointestinal hemorrhage, Insulin resistance, Hypotension, Erectile dysfunction,... |
ORPHA:3452 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... |
OMIM:251880 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pleural effusion, Hypotension... |
ORPHA:292 |
| Refractory Celiac Disease |
|
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transam... |
ORPHA:398063 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Ataxia, Hepatomegaly, Jaundice, Cataract, Splenomegaly, Hyperkalemia |
OMIM:608885 |
| Mirage Syndrome |
|
Intracranial hemorrhage, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Achalasia, Hy... |
OMIM:617053 |
| Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly... |
ORPHA:650 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Pre... |
ORPHA:182050 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat... |
OMIM:300635 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... |
OMIM:246700 |
| Avian Influenza |
|
Cough, Pneumonia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive protein concentrat... |
ORPHA:454836 |
| Necrotizing Enterocolitis |
|
Peritonitis, Apnea, Abnormal heart morphology, Leukocytosis, Hypotension, Hyponatremia, Neutropen... |
ORPHA:391673 |
| Nephrotic Syndrome, Type 14 |
|
Lymphopenia, Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism |
OMIM:617575 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Ventricular septal hypertrophy, Elevated circulating creatine kinase concen... |
ORPHA:370 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, Ne... |
ORPHA:540 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure |
ORPHA:75234 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr... |
ORPHA:167 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... |
OMIM:615234 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Respiratory insufficiency, Th... |
ORPHA:848 |
| Immunodeficiency 15A |
|
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... |
OMIM:618204 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Hematochezia, Leukocytosis, Steatorrhea, Elevated circulating C-reactive prote... |
ORPHA:2070 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Amenorrhe... |
OMIM:604250 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... |
ORPHA:231226 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... |
ORPHA:79237 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... |
ORPHA:275555 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... |
ORPHA:247598 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, T lymphocytopenia, Restrictive cardiomyopathy, Impa... |
OMIM:619313 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells |
OMIM:615607 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Menorrhagia, Gian... |
OMIM:155100 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Hyponatremia, Cerebral vasculitis, Leukocytosis |
ORPHA:83601 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Respiratory par... |
ORPHA:449285 |
| Syndromic Diarrhea |
|
Cirrhosis, Thrombocytosis, Atrial septal defect, Abnormality of iron homeostasis, Aortic regurgit... |
ORPHA:84064 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Opacification of the corneal stroma,... |
OMIM:245900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Oligomenorr... |
ORPHA:264580 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... |
OMIM:617156 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Ventilator dependence with inability to wean,... |
ORPHA:100924 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... |
ORPHA:98870 |
| Ataxia With Vitamin 3 Deficiency |
|
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Ventricular sep... |
OMIM:222470 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Atrial septal defect, Respiratory distress, Enlarged kidney, Macrovesicular ... |
OMIM:617303 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Respiratory failure requiring assisted ventilation, Hyponatremia, Elevated circulat... |
ORPHA:1930 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Constrictive pericarditis, Elevated hepatic transaminase, Leukocytosis, Pl... |
ORPHA:67 |
| Shigellosis |
|
Peritonitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Pneu... |
ORPHA:810 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Pain insensitivity, Ataxia, Impaired vibration sensation in the lower limbs... |
ORPHA:94124 |
| Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hemobilia, Budd-Chiari syndrome, Jaundice, Hypercalcemia,... |
ORPHA:88673 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... |
ORPHA:86841 |
| Abetalipoproteinemia |
|
Reticulocytosis, Hypoalbuminemia, Anemia, Impaired proprioception, Abnormal circulating apolipopr... |
ORPHA:14 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... |
OMIM:144250 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Jaun... |
ORPHA:275761 |
| Fechtner syndrome |
|
Developmental cataract, Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelet... |
OMIM:153640 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia, Shock |
OMIM:600351 |
| Al Amyloidosis |
|
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, I... |
ORPHA:85443 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... |
OMIM:603471 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... |
OMIM:606069 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... |
OMIM:616829 |
| Porphyria Variegata |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Hyponatremia, Hypertension, Respiratory ... |
ORPHA:79473 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Distal sensory impairment |
OMIM:607250 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| X-Linked Sideroblastic Anemia |
|
Dyspnea, Glucose intolerance, Abnormality of iron homeostasis, Elevated hepatic transaminase, Ane... |
ORPHA:75563 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... |
OMIM:613673 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension, Decreased circulating cortisol level, Hyponatremia, Hyperur... |
ORPHA:199299 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Infertility, Cirrhosis, Arrhythmia, Azoospermia, Am... |
OMIM:602390 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Abnormal circulating albumin concentration, Exertional dyspnea, Leukocytosis, Throm... |
ORPHA:86839 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... |
OMIM:187800 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Hyperuricemi... |
ORPHA:79083 |
| Primary Intestinal Lymphangiectasia |
|
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Pleural effusion, Lymphopenia, Pericardial... |
ORPHA:90362 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... |
OMIM:618398 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated circulating creatine kin... |
ORPHA:94093 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... |
OMIM:618963 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Budd-Chiari syndrome, Pneumonia, Hepatom... |
OMIM:226300 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:2274 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated hepatic transaminase, Leukocytosis, Hypotension, Elevated cir... |
ORPHA:91547 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Respiratory distress, Elevated hepatic transaminase, Respiratory insufficiency, Hepato... |
ORPHA:367 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia |
OMIM:600208 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Central apnea, Conjunctival icterus, Abnormal conjunctiva morpho... |
ORPHA:529808 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Central apnea, Abnormal conjunctiva morphology, Conjunctival ict... |
ORPHA:529799 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... |
OMIM:607765 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... |
ORPHA:100025 |
| Sebastian syndrome |
|
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... |
OMIM:605249 |
| Dehydrated Hereditary Stomatocytosis |
|
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... |
ORPHA:3202 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Dyspnea, Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614582 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Hypertriglyceridemia,... |
OMIM:617591 |
| Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Hypotension, Decreased circulating cortisol level, Hyponatr... |
ORPHA:95409 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,... |
OMIM:212065 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Developmental cataract, Gait ataxia, Glucose intolerance, Orthostatic hypot... |
OMIM:606721 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent tonsillitis, Wheezing, Arrhythmia, Cough, Hyponatremia, Increased circulating renin lev... |
ORPHA:171876 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... |
OMIM:237800 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hypertension, Hepatic fibrosis,... |
ORPHA:280356 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Respiratory distress, Cardiorespir... |
ORPHA:31824 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant plate... |
ORPHA:238459 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hepatomegaly, Increased circulating chylomicron concentration, Hypertriglyc... |
OMIM:207750 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage |
OMIM:137560 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Arrhythmia, Dyspnea, Reticulocytosis, Thrombocytopenia, Myocar... |
ORPHA:54057 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Oligomenorrhea, Hypotension, Hypergonadotropic hypogonadism... |
ORPHA:95613 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Bronchiectasis, Autoimmune thrombocytopenia, Hypotension, Decreased cir... |
ORPHA:293978 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulati... |
ORPHA:90038 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hypoproteinemia, Tremor, Elevated hepatic transaminase, Hepatic steatosis, ... |
ORPHA:247585 |
| Beta-Thalassemia Intermedia |
|
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... |
ORPHA:231222 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Pneumonia, Hypoalbuminem... |
ORPHA:2298 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Menorrhagia, Splenom... |
OMIM:153670 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, An... |
ORPHA:79312 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal circulating cholesterol concent... |
OMIM:607330 |
| Cog4-Cdg |
|
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, A... |
ORPHA:263501 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... |
OMIM:602579 |
| Addison Disease |
|
Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol... |
ORPHA:85138 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... |
OMIM:615559 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Hypocalcemia, Respiratory distress, Hypotension, Myocarditis, Elevated circulating c... |
ORPHA:36234 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Ataxia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, Leukopen... |
ORPHA:27 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... |
OMIM:616689 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Telangiectasia, Cardiomyopathy, Cirrh... |
OMIM:235200 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:2348 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Arrhythmia, Hemolytic anemia, Hyperkalemia |
ORPHA:57 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neu... |
OMIM:169400 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... |
ORPHA:37042 |
| Analbuminemia |
|
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... |
OMIM:616000 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... |
ORPHA:98907 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase |
OMIM:606664 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Atrial septal defect, Stridor, Respiratory distress, Patent foramen ovale, Abnormal heart morphol... |
ORPHA:505248 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:616834 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia, ... |
OMIM:208920 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hypergonadotropic hypogon... |
ORPHA:66628 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Adenohypophysitis |
|
Orthostatic hypotension, Amenorrhea, Decreased circulating cortisol level, Hyponatremia, Impotenc... |
ORPHA:95512 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Hypergonadotropic hypogon... |
ORPHA:179494 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Amenorrhea, Oligomenorrhea, Decreased circulating cortisol... |
ORPHA:91355 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... |
OMIM:613027 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... |
OMIM:610600 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hyperuricemia,... |
OMIM:604367 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Hypoproteinemia, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Ataxia, ... |
ORPHA:363400 |
| Diffuse Alveolar Hemorrhage |
|
Restrictive ventilatory defect, Dyspnea, Leukocytosis, Elevated circulating creatinine concentrat... |
ORPHA:90060 |
| Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Paresthesia, Hyponatremia, Respiratory insufficiency, Hypokalemia, Congestive heart f... |
ORPHA:682 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... |
OMIM:616278 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Tremor, Increased blood urea nitrogen, Respiratory distress, R... |
OMIM:274150 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,... |
ORPHA:528 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... |
ORPHA:731 |
| Panhypophysitis |
|
Orthostatic hypotension, Amenorrhea, Decreased circulating cortisol level, Hyponatremia, Impotenc... |
ORPHA:95513 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:617514 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Chorea, Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia, ... |
ORPHA:289916 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... |
ORPHA:209902 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... |
ORPHA:556037 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... |
ORPHA:556030 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage |
ORPHA:2494 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Hereditary Coproporphyria |
|
Hepatocellular carcinoma, Hyponatremia, Respiratory insufficiency, Tachycardia, Abnormal circulat... |
ORPHA:79273 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... |
OMIM:214900 |
| Trimethylaminuria |
|
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia |
OMIM:602079 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Elevated circulating creatinine co... |
ORPHA:79126 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, ... |
ORPHA:199296 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... |
ORPHA:2442 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypogonadism, ... |
ORPHA:181393 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Cirrhosis, Tachypnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Emph... |
OMIM:613658 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Hypergonadotropic ... |
OMIM:230400 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... |
ORPHA:470 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertension, Hepatomegaly, Hypertriglyceridemia, Acute panc... |
OMIM:608600 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenop... |
OMIM:619164 |
| Tangier Disease |
|
Orange discolored tonsils, Coronary artery stenosis, Chronic noninfectious lymphadenopathy, Impai... |
ORPHA:31150 |
| Galactosemia |
|
Postural tremor, Cirrhosis, Elevated hepatic transaminase, Oligomenorrhea, Increased level of gal... |
ORPHA:352 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Ataxia |
OMIM:618426 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration, Elevated hepatic transamina... |
OMIM:614727 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... |
ORPHA:543 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Palpitations |
ORPHA:488650 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... |
ORPHA:90065 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... |
ORPHA:911 |
| H Syndrome |
|
Azoospermia, Bronchiectasis, Microcytic anemia, Amenorrhea, Enlarged kidney, Abnormal cardiovascu... |
ORPHA:168569 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Abnormal thrombocyte morphology |
ORPHA:172 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... |
OMIM:616959 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
| Primary Membranoproliferative Glomerulonephritis |
|
Myocardial infarction, Hypoalbuminemia, Hypertension |
ORPHA:54370 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Anemia, Respiratory insufficiency |
ORPHA:28 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... |
OMIM:615513 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Secondary amenorrhea |
OMIM:301033 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia, Impotence, Oligomenorrhea |
ORPHA:91354 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia |
OMIM:177735 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cardiomegaly, Elevated transferrin saturation, Card... |
ORPHA:465508 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Galactosemia Iii |
|
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hemolytic anemia, Dyspnea, Leukocytosis, Hyponatremia, Pneumonia, Pleural empyema, ... |
ORPHA:544482 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Increased blood urea nitrogen, Orthostatic hypotension, Insulin resistance, Hyperinsulin... |
ORPHA:230 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia, Microcytic anemia |
OMIM:251900 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Apnea, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hypotension, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg... |
ORPHA:75565 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Epistaxis, Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... |
OMIM:235400 |
| Babesiosis |
|
Hemolytic anemia, Cough, Respiratory insufficiency, Thrombocytopenia, Jaundice, Hepatomegaly, Myo... |
ORPHA:108 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Increased serum pyruvate, Ataxia, Hyperalaninemia, Splenomegaly, Hyperprol... |
OMIM:619046 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe... |
OMIM:618620 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... |
OMIM:613179 |
| Primary Sclerosing Cholangitis |
|
Jaundice, Hypoalbuminemia, Palmar telangiectasia, Cirrhosis, Acute hepatic failure, Abnormal bili... |
ORPHA:171 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Ga... |
ORPHA:572 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated hepatic t... |
ORPHA:79230 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... |
ORPHA:231401 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu... |
ORPHA:90044 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:79085 |
| Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Ca... |
OMIM:269920 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Glucose intolerance, Insulin resistance, Hepatic steatosis, Elevated hem... |
OMIM:617253 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas... |
ORPHA:300298 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Respiratory i... |
OMIM:618278 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Iris hypopigmentation, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splen... |
ORPHA:79477 |
| Beta-Thalassemia Major |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... |
ORPHA:231214 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Atrial fi... |
OMIM:613327 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... |
OMIM:618892 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Paresthesia, Increased erythrocyte protoporphyrin concentration, Reticulocytosi... |
ORPHA:79277 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating homocysteine concentration, Hepatocellular ca... |
ORPHA:88618 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hypotension, Hyponatremia, Hyperaldosteronism |
OMIM:264350 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Corneal erosion, Decreased serum iron, Decreased serum zinc, Hypoalbu... |
ORPHA:89842 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Pneumonia |
OMIM:618806 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... |
ORPHA:567548 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... |
OMIM:300539 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... |
ORPHA:846 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, T lymphocytopenia, Pulmonary insufficiency, Lymphopenia, Sinusitis, B lymphocytop... |
ORPHA:277 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia |
ORPHA:2123 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Azoospermia, Neonatal hypoglycemia, Hypotension, Decreased circulating cortisol level, Hyponatrem... |
ORPHA:90791 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Lactescent serum... |
OMIM:238600 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased proportion of CD8-positive T cells, Secundum atrial septal defect, Decr... |
OMIM:611926 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Abnormality of neutrophils, Abnormal circulating lipid concentration, Atax... |
|
