Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Splenomegaly, Elevated hepatic transaminase, Pallor |
ORPHA:75563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... |
ORPHA:848 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... |
OMIM:613313 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... |
OMIM:616278 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... |
OMIM:604250 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
Retinohepatoendocrinologic Syndrome |
|
Elevated circulating creatine kinase concentration, Degenerative liver disease, Pallor |
OMIM:268040 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... |
ORPHA:231222 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... |
OMIM:300908 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal macrophag... |
ORPHA:507 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice |
OMIM:611804 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice |
OMIM:613839 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor |
ORPHA:163596 |
Primary Myelofibrosis |
|
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Pallor, ... |
ORPHA:824 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Congenital hepatic fib... |
ORPHA:446 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... |
OMIM:603358 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Hepatic steatosis, Increased ci... |
OMIM:606069 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... |
OMIM:300752 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Pallor, Extramedullary he... |
ORPHA:822 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Increased c... |
OMIM:600462 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Decreased liver f... |
OMIM:613280 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular vo... |
OMIM:611590 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... |
ORPHA:231214 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, Nodular regenerative hyperplasi... |
ORPHA:64743 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... |
ORPHA:1959 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... |
OMIM:232700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:616829 |
Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:101330 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
OMIM:615395 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... |
OMIM:603471 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Cutis laxa, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, De... |
OMIM:301045 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pa... |
OMIM:616959 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... |
OMIM:602390 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... |
ORPHA:53693 |
Portal Hypertension, Noncirrhotic, 2 |
|
Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Petechiae, Nodular regenerative hyperplasia o... |
OMIM:619463 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduced lysosomal acid l... |
OMIM:278000 |
Letterer-Siwe Disease |
|
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice |
OMIM:246400 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Decreased... |
ORPHA:276575 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Anemia, Hyperammonemia, Hyperuricemia, Pallor, Decreased plasma carnitine |
OMIM:246450 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Decreased circulating free fatty acid level, ... |
ORPHA:276556 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... |
OMIM:617156 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... |
ORPHA:331206 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... |
ORPHA:3226 |
Autoimmune Hemolytic Anemia |
|
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice |
ORPHA:90033 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Abnormal circulating fatty-acid concentration, ... |
ORPHA:263455 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... |
OMIM:613070 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration |
ORPHA:209919 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... |
ORPHA:465508 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level |
ORPHA:276580 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Increased C-peptide level, Pallor, Decreased circulating free fatty acid level |
ORPHA:324575 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Increased ... |
OMIM:235200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... |
OMIM:613812 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Micronodular cirrhosis,... |
ORPHA:309854 |
Myelofibrosis |
|
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly |
OMIM:254450 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Elevated total serum t... |
ORPHA:98849 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... |
OMIM:618528 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... |
ORPHA:158057 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... |
OMIM:619662 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia, Cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... |
OMIM:147480 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Candidiasis, Familial, 2 |
|
Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline phosphatase concent... |
OMIM:235555 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Cut... |
OMIM:300972 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Increased circulating ferritin concentration, Hepatosp... |
ORPHA:210136 |
Sepsis In Premature Infants |
|
Leukocytosis, Hepatomegaly, Neutropenia, Elevated circulating C-reactive protein concentration, P... |
ORPHA:90051 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pallor, Pancreatic cysts |
OMIM:616307 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Abn... |
ORPHA:348 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron |
OMIM:614602 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Abnormal circulating albumin conce... |
ORPHA:86839 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... |
ORPHA:54028 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... |
ORPHA:567983 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality o... |
OMIM:222470 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... |
OMIM:214950 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Increased circulati... |
ORPHA:3203 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase |
OMIM:613490 |
Aceruloplasminemia |
|
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... |
ORPHA:48818 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron |
OMIM:604290 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... |
ORPHA:20 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration |
OMIM:121270 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... |
OMIM:251880 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Elevated alkaline ... |
ORPHA:398063 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia... |
OMIM:619484 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... |
OMIM:600803 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... |
ORPHA:65682 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... |
ORPHA:905 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Abnormality of the pancreas, Neutrophilia, Elevated hepatic transaminase, Elevated circul... |
ORPHA:54251 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality of iron homeostasis, He... |
ORPHA:84064 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Persistence of hemoglobin F, Ac... |
OMIM:260400 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Dermal translucenc... |
ORPHA:541423 |
American Trypanosomiasis |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3386 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... |
ORPHA:247598 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:171851 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... |
OMIM:618641 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Decreased liver function,... |
ORPHA:540 |
Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Hyperammonemia, Hyperuricemia, Pallor |
ORPHA:134 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hypersplenism, Conjug... |
ORPHA:480520 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... |
ORPHA:398124 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Cog2-Cdg |
|
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:435934 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... |
OMIM:600649 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Normocytic anemia, Leukemia, Splenomegaly, Purpura, Pallor, Abnormality of neutrophils |
ORPHA:33226 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Elevated circulating c... |
ORPHA:370 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Erythema, Spleno... |
ORPHA:829 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor |
ORPHA:94080 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... |
ORPHA:1667 |
Wilson Disease |
|
Hepatomegaly, High nonceruloplasmin-bound serum copper, Hepatocellular carcinoma, Cirrhosis, Hepa... |
OMIM:277900 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis, Elevate... |
ORPHA:131 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Elevated circulating creatine kinase concentrati... |
ORPHA:264580 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, ... |
ORPHA:71 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Elevated hepatic transaminase, Anemia, I... |
OMIM:603553 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia, Pancreatit... |
ORPHA:3260 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Neutropenia |
OMIM:609053 |
Adenohypophysitis |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95512 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Anemia, ... |
ORPHA:84081 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... |
ORPHA:158048 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia, Pallor |
ORPHA:667 |
Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95613 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Hypokalemia, Polycythemia, ... |
ORPHA:88673 |
Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95513 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Hypotension |
OMIM:263400 |
Lysinuric Protein Intolerance |
|
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... |
ORPHA:470 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... |
ORPHA:562639 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
Sheehan Syndrome |
|
Dry skin, Hyponatremia, Normochromic anemia, Pallor |
ORPHA:91355 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Hyponatremia, Hyperkalemia, Pancreatitis, Hypocalcemia, Thrombocy... |
ORPHA:544482 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
Neuroendocrine Tumor Of The Colon |
|
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... |
ORPHA:100080 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension |
OMIM:618480 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vacuolated lympho... |
ORPHA:275761 |
Acquired Von Willebrand Syndrome |
|
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... |
ORPHA:99147 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Pallor |
ORPHA:276621 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Dengue Fever |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
Neuroendocrine Tumor Of The Rectum |
|
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... |
ORPHA:100082 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Abnormal EKG, Dec... |
OMIM:229300 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Common Variable Immunodeficiency |
|
Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia, Purpura, Elevat... |
ORPHA:1572 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
Myopathy, Mitochondrial, And Ataxia |
|
Elevated circulating creatine kinase concentration, Pallor |
OMIM:617675 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
Reynolds Syndrome |
|
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Elevated circulating alkaline phospha... |
OMIM:613471 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... |
ORPHA:456312 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Elevated alkalin... |
ORPHA:171 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Anemic pallor, Annular pancreas, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, ... |
OMIM:227646 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... |
ORPHA:89842 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... |
ORPHA:521219 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:188 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatocellular carcinoma, Hypertyrosinemia, Splenomegaly, Cirrhosis, Pancreatic isl... |
OMIM:276700 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Bronchial Neuroendocrine Tumor |
|
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Cardioge... |
ORPHA:97287 |
Degcags Syndrome |
|
Hepatomegaly, Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Hyperbil... |
OMIM:619488 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Pallor, Erythema |
OMIM:308300 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Pallor |
ORPHA:29072 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pallor |
ORPHA:892 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
X-Linked Lymphoproliferative Disease |
|
Splenomegaly, Absent natural killer cells, Increased circulating ferritin concentration, Hepatosp... |
ORPHA:2442 |
Rare Circulatory System Disease |
|
Pallor |
ORPHA:98028 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Pallor, Neoplasm of the liver |
ORPHA:653 |
Meningococcal Meningitis |
|
Shock, Hypotension |
ORPHA:33475 |
Neuroendocrine Tumor Of Stomach |
|
Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Melena, ... |
ORPHA:100075 |
Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... |
ORPHA:100077 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension |
ORPHA:159 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Colchicine Poisoning |
|
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension |
ORPHA:31824 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Sarcoidosis |
|
Portal hypertension, Hepatomegaly, Hypercalcemia, Leukopenia, Increased T cell count, Anemia, Abn... |
ORPHA:797 |
Congenital Hypothyroidism |
|
Hypertension, Arrhythmia, Hypotension |
ORPHA:442 |
Legionnaires Disease |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:549 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypotension |
ORPHA:98850 |
Whipple Disease |
|
Myocarditis, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypotension |
ORPHA:3452 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Mastocytosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:98292 |
Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Spina bifida, Asplenia |
ORPHA:99776 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
Slc39A8-Cdg |
|
Abnormality of the liver, Abnormal blood zinc concentration, Hypomanganesemia |
ORPHA:468699 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension |
ORPHA:36238 |
Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... |
ORPHA:31826 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Duodenal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Melena, Pulmonic stenosis, Cardiogen... |
ORPHA:100076 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... |
OMIM:229310 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Hypokalemia |
ORPHA:91347 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Congestive heart failure, Abnorm... |
OMIM:601992 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak |
ORPHA:36234 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... |
ORPHA:340 |
Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia |
OMIM:263800 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... |
ORPHA:99827 |
Goodpasture Syndrome |
|
Pallor, Anemia, Increased blood urea nitrogen |
OMIM:233450 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated hepati... |
OMIM:300868 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle metabolism, Cardi... |
ORPHA:255210 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Myocardial infarction, Hypotension, Hypovolemia |
ORPHA:95409 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension |
ORPHA:199299 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Pallor |
OMIM:253280 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension |
ORPHA:293978 |
Alexander Disease |
|
Sudden cardiac death, Hypertension, Hypotension |
ORPHA:58 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Tricuspid stenosis, Heart murmur, Hypotension |
ORPHA:100079 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Hypotensi... |
ORPHA:466650 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... |
ORPHA:99826 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Decreased serum iron |
ORPHA:438213 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:168558 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Iron deficiency anemia, Decreased serum zinc, Anemia, Abnormal circulating selenium concentration... |
ORPHA:79408 |
Leptospirosis |
|
Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree ... |
ORPHA:509 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:289548 |
Addison Disease |
|
Orthostatic hypotension, Hypotension |
ORPHA:85138 |
Wrinkly Skin Syndrome |
|
Cutis laxa, Excessive wrinkled skin, High nonceruloplasmin-bound serum copper, Umbilical hernia, ... |
ORPHA:2834 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension |
ORPHA:90062 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor |
ORPHA:99125 |
Pmm2-Cdg |
|
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology, Reduced th... |
ORPHA:79318 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypovolemia, Shock, Hypotension |
ORPHA:90794 |
Plague |
|
Arrhythmia, Hematemesis, Tachycardia, Hypotension |
ORPHA:707 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |