Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Wolff-Parkinson-White syndrome, Decreas... |
OMIM:618378 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy |
OMIM:226100 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia |
OMIM:613752 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... |
ORPHA:3400 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly, Hypoalbumi... |
OMIM:209950 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... |
ORPHA:507 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... |
ORPHA:263297 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Familial Aortic Dissection |
|
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrion |
ORPHA:91130 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... |
ORPHA:2070 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly |
OMIM:619013 |
Barth Syndrome |
|
Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo... |
OMIM:302060 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... |
OMIM:135580 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... |
ORPHA:684 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Hypertension, Arterial stenosis, Coronary artery atherosclerosi... |
ORPHA:1192 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Mitochondrial swelling, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology, Dec... |
OMIM:618250 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hypoproteinemia, Decreas... |
ORPHA:90362 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
ORPHA:540 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... |
OMIM:613854 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Wolcott-Rallison Syndrome |
|
Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Neutrope... |
ORPHA:1667 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... |
OMIM:242150 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs |
OMIM:255700 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ... |
ORPHA:99050 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:88618 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:500013 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Anemia, Hypoalbuminemia |
OMIM:174900 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Left ventricular hypertrophy, Prolonged QTc interval, Percussion myotonia |
OMIM:619040 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology, Hypertension, Arrhythmia |
ORPHA:3222 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia |
OMIM:617303 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia |
OMIM:168300 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... |
OMIM:251880 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... |
ORPHA:231160 |
Myotonia Fluctuans |
|
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the face, Myotonia of t... |
ORPHA:99734 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ... |
ORPHA:37042 |
Scimitar Syndrome |
|
Truncus arteriosus, Heart block, Abnormal vena cava morphology, Double outlet right ventricle, Ve... |
ORPHA:185 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal mitochondrial shape, Interrupted aortic ... |
ORPHA:17 |
Distal Myopathy, Tateyama Type |
|
Percussion-induced rapid rolling muscle contractions, Palpitations |
ORPHA:488650 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis, Abnormal ci... |
ORPHA:14 |
Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hypoalbuminemia, Hemolytic anemia, Hepatosplenomegaly |
OMIM:619487 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Hypoalbuminemia, Increased circulating NT-proBNP concentration |
ORPHA:85443 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Myotonia, Handgrip myotonia, Premature ventricular contraction, Oligos... |
OMIM:602668 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... |
ORPHA:89842 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of the mitochondrion |
ORPHA:330050 |
Wilson Disease |
|
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Brody Disease |
|
Myotonia, Percussion myotonia |
OMIM:601003 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... |
ORPHA:2299 |
Hepatocellular Carcinoma |
|
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... |
ORPHA:88673 |
Myotonia, Potassium-Aggravated |
|
Myotonia, Handgrip myotonia, Percussion myotonia |
OMIM:608390 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Bundle branch block, Myotonia, Firs... |
ORPHA:589821 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia |
OMIM:212065 |
Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia |
ORPHA:79324 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Myotonic Dystrophy 1 |
|
Atrial flutter, First degree atrioventricular block, Myotonia, Atrial fibrillation |
OMIM:160900 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... |
ORPHA:392 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Increased mean platelet volume... |
OMIM:222470 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... |
OMIM:208530 |
Normokalemic Periodic Paralysis |
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Percussion myotonia |
OMIM:170600 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... |
ORPHA:402075 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia |
ORPHA:505248 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Hypertrophic... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Hypertrophic... |
ORPHA:261 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Ventricular ... |
ORPHA:98855 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
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Myotonia |
OMIM:254950 |
Absence Of The Pulmonary Artery |
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Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Patent ductus arter... |
ORPHA:980 |
Insulin-Resistance Syndrome Type B |
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Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... |
ORPHA:2298 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Right ventricular hypertrophy, Left ventricular systolic dysfunction, EMG: myotonic runs |
ORPHA:353 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Hypertrophic cardiomyopathy, Ventric... |
ORPHA:98863 |
Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Reduced circulating transferrin concentration, Lymphopenia, Hypochole... |
ORPHA:90363 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Hypoalbuminemia |
OMIM:235510 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Anemia, Hypoalbuminemia |
ORPHA:79396 |
Juvenile Polyposis Of Infancy |
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Anemia, Refractory anemia, Hypoalbuminemia |
ORPHA:79076 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Marburg Hemorrhagic Fever |
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Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
Xfe Progeroid Syndrome |
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Hypoalbuminemia |
OMIM:610965 |
Galloway-Mowat Syndrome 3 |
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Hypoalbuminemia |
OMIM:617729 |
Muscular Dystrophy, Barnes Type |
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Myotonia |
OMIM:158800 |
Hyperkalemic Periodic Paralysis |
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Myotonia, Congestive heart failure, Arrhythmia |
ORPHA:682 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Myotonia |
ORPHA:371 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Galloway-Mowat Syndrome 1 |
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Hypoalbuminemia |
OMIM:251300 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Percussion myotonia |
ORPHA:34516 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Hypokalemic Periodic Paralysis, Type 1 |
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Myotonia |
OMIM:170400 |
Heterotaxy, Visceral, 8, Autosomal |
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Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Hyperkalemic Periodic Paralysis |
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Myotonia |
OMIM:170500 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
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Percussion-induced rapid rolling muscle contractions, Myotonia, Handgrip myotonia |
ORPHA:324442 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Myotonia |
OMIM:255710 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:619381 |
Acetazolamide-Responsive Myotonia |
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Myotonia |
ORPHA:99736 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Splenomegaly, Hypoalbuminemia |
ORPHA:171 |
Myopathy, X-Linked, With Excessive Autophagy |
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Myotonia |
OMIM:310440 |
Zebra Body Myopathy |
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Handgrip myotonia |
ORPHA:97240 |
Episodic Ataxia, Type 2 |
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Myotonia |
OMIM:108500 |
Myotonia Permanens |
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Myotonia |
ORPHA:99735 |
Episodic Ataxia Type 1 |
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Myotonia |
ORPHA:37612 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol, Splenomegaly, Hypoalbuminemia |
OMIM:270400 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Myotonia |
ORPHA:391307 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Telangiectasia, Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Mitral v... |
OMIM:175050 |
Richieri Costa-Da Silva Syndrome |
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Myotonia of the upper limb, Handgrip myotonia |
ORPHA:3101 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Double outlet ... |
OMIM:270100 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Myotonia |
OMIM:615491 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Abnormality of the mitochondrion |
ORPHA:298 |
Thyrotoxic Periodic Paralysis |
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Impaired myocardial contractility, Myotonia, Shortened PR interval, Prolonged QT interval, Palpit... |
ORPHA:79102 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Vascular dilatation, Prolonged QT interval, Muscle mounding, Bradycardia, Tachycardia, Atrial fib... |
OMIM:613327 |
Schwartz-Jampel Syndrome, Type 1 |
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Percussion myotonia |
OMIM:255800 |
Congenital Total Pulmonary Venous Return Anomaly |
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Supracardiac total anomalous pulmonary venous connection, Pulmonary artery stenosis, Tricuspid re... |
ORPHA:99125 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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EMG: myotonic runs, Cardiomyopathy |
ORPHA:206549 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Reduced left ventricular ejection fraction, Ventricular arrhythmia, Left ventricular hypertrophy,... |
ORPHA:254892 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Abnormal heart morphology, Abnormality of the mitochondrion |
OMIM:214110 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Myotonia |
OMIM:601559 |
Sialuria |
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Abnormality of the mitochondrion |
ORPHA:3166 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia, Hypoalbuminemia |
ORPHA:75565 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Schwartz-Jampel Syndrome |
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Pulmonary arterial hypertension, Myotonia, Arrhythmia |
ORPHA:800 |
Steinert Myotonic Dystrophy |
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Supraventricular tachycardia, Myotonia of the upper limb, Dilated cardiomyopathy, Handgrip myoton... |
ORPHA:273 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Handgrip myotonia |
ORPHA:438216 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia |
ORPHA:79318 |