Diamond-Blackfan Anemia 19 |
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Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Barth Syndrome |
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Abnormality of neutrophils, Abnormal mitochondrial morphology |
ORPHA:111 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Decreased plasma carnitine, Anemia |
OMIM:611283 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Barth Syndrome |
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Granulocytopenia, Neutropenia, Abnormal mitochondrial morphology |
OMIM:302060 |
Hemoglobin E Disease |
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Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... |
ORPHA:2133 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Abnormal mitochondrial morphology |
OMIM:618528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Hsd10 Mitochondrial Disease |
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Abnormal mitochondrial morphology |
OMIM:300438 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypochromia, Azoospermia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Pancytopenia And Occlusive Vascular Disease |
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Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex IV, Mitochondrial hypertrophy, Decreased activity of ... |
OMIM:500013 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Intrauterine growth retardation, Decreased activity of mitochondrial complex IV, Decreased activi... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Intrauterine growth retardation, Decreased activity of mitochondrial complex IV, Decreased activi... |
OMIM:618839 |
Reticular Dysgenesis |
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Abnormality of mitochondrial metabolism, Anemia, Abnormality of neutrophils, Leukopenia |
ORPHA:33355 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Alpha-Thalassemia |
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Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Anemia, Sideroblastic, 1 |
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Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Myopathy With Lactic Acidosis, Hereditary |
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Decreased activity of mitochondrial complex III, Sideroblastic anemia, Abnormal iron deposition i... |
OMIM:255125 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Abnormality of the mitochondrion |
ORPHA:91130 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis |
OMIM:187800 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormality of the mitochondrion |
ORPHA:330050 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Anemia, Abnormality of mitochondrial metabolism |
ORPHA:1192 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Intrauterine growth retardation, Abnormality of mitochondrial metabolism |
OMIM:615330 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Anemia, Abnormality of the mitochondrion |
ORPHA:298 |
Cowden syndrome 3 |
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Abnormality of mitochondrial metabolism |
OMIM:615106 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hypoplasia of the thymus, Intrauterine growth retardation, Abnormality of the mitochondrion |
OMIM:214110 |
Sialuria |
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Hepatosplenomegaly, Abnormality of the mitochondrion |
ORPHA:3166 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
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Abnormality of mitochondrial metabolism |
ORPHA:88639 |
Hsd10 Disease, Infantile Type |
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Abnormality of mitochondrial metabolism |
ORPHA:391428 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Abnormality of mitochondrial metabolism, Intrauterine growth retardation, Umbilical hernia |
OMIM:614052 |
Manganese Poisoning |
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Abnormality of mitochondrial metabolism |
ORPHA:306682 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Abnormality of the mitochondrion |
ORPHA:254892 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of mitochondrial metabolism |
OMIM:203700 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Abnormality of mitochondrial metabolism |
ORPHA:314404 |