| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... |
ORPHA:53693 |
| Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Cholestasis, Increased serum ... |
OMIM:603358 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... |
OMIM:231100 |
| Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Congenital hepatic fibrosis, ... |
ORPHA:446 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... |
OMIM:613313 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
| Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... |
ORPHA:79230 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... |
ORPHA:209919 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... |
OMIM:616278 |
| Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithi... |
ORPHA:848 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration,... |
ORPHA:231222 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circulating porp... |
ORPHA:79278 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
| Aceruloplasminemia |
|
Dystonia, Abnormality of retinal pigmentation, Aceruloplasminemia, Retinal degeneration, Elevated... |
ORPHA:48818 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:171851 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cirrhosis, Increased ... |
OMIM:604250 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly |
OMIM:618852 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Paresthesia, Spontaneous pain sensation, Peripheral demyelination, Falls,... |
ORPHA:2932 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... |
ORPHA:101330 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... |
ORPHA:497764 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Increased c... |
OMIM:600462 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Axonal loss, Cerebellar atrophy, Chorea, Peripheral demyelination, Neurodegeneration, A... |
OMIM:617672 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... |
OMIM:300752 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Splenomegaly, Cirrhosis, Increased circulating ferritin conce... |
OMIM:602390 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... |
OMIM:606069 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hyperlipidemia, Gliosis, Axonal degeneration, Mildly elevated creatine kinase, ... |
OMIM:604484 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci... |
OMIM:604416 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Motor conduction block,... |
ORPHA:206594 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... |
DECIPHER:29 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
| Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
| Aceruloplasminemia |
|
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration |
OMIM:121270 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment,... |
OMIM:606483 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Impaired distal proprioception, Impaired pain sensat... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demye... |
ORPHA:208981 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Optic neuritis, Ataxia |
OMIM:165200 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Microcytic anemia, Neutropenia |
OMIM:251900 |
| Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense, Decreased number ... |
OMIM:608703 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Spinocerebellar Ataxia Type 25 |
|
Impaired distal tactile sensation, Decreased number of large peripheral myelinated nerve fibers, ... |
ORPHA:101111 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test |
OMIM:229100 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:118200 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Gait disturbance, Rod-cone dystrophy, Distal sensory impairm... |
OMIM:311070 |
| Cog2-Cdg |
|
Decreased liver function, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:435934 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vess... |
OMIM:609033 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrop... |
OMIM:221770 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, ... |
OMIM:619013 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... |
OMIM:613280 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, Hypermethioninemia, CNS demyelination |
OMIM:250850 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Distal sensory impairment, Axonal regeneration, Steppage gait |
OMIM:615185 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Choreoathetosis, Elevated circulating creatine kinase concentration, Dilated fourth ventricle, To... |
OMIM:619054 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Steppage gait... |
OMIM:608340 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Step... |
OMIM:145900 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Steppage gait |
OMIM:616039 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Neuronal loss in central nervous system, Optic neuritis, Myelitis, Soma... |
ORPHA:71211 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Dist... |
OMIM:601098 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Broad-... |
OMIM:258650 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal sensory impairment, Perip... |
OMIM:609311 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal regener... |
OMIM:607731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Steppage gait,... |
OMIM:607677 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia |
OMIM:245900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, T... |
ORPHA:95434 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Pain insensitivity, Abnormal peripheral myelination, Impaired tactile sensation |
OMIM:147530 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Neurodegeneration, Ataxia, Retinopathy... |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory im... |
OMIM:604563 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Mildly elevated creatine ki... |
OMIM:615376 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Steppage gait, Difficulty walking |
OMIM:618279 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... |
OMIM:602433 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Krabbe Disease |
|
Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelination, Decreased nerve co... |
OMIM:245200 |
| Abetalipoproteinemia |
|
Retinal degeneration, CNS demyelination, Peripheral demyelination, Abetalipoproteinemia, Ataxia, ... |
OMIM:200100 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Steppage gait, Distal sensory ... |
OMIM:615035 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Hepatitis, Decreased serum iron |
OMIM:614602 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Axonal loss, Peripheral demyelination, Ataxia, Difficulty walking |
OMIM:616684 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia |
ORPHA:228169 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Distal sensory impairment, Gait disturbance, Peripheral demyelination, Decreased nerve conduction... |
ORPHA:99944 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination, Brain atrophy, Ventriculomegaly |
OMIM:617731 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Peripheral dem... |
OMIM:604168 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Elev... |
ORPHA:465508 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal sensory impairment, Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration |
OMIM:607736 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy, Impaired distal proprioception |
ORPHA:231445 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Increased ... |
OMIM:235200 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, D... |
OMIM:611228 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cerebellar atrophy, Retinal degeneration, CNS demyelination, Peripheral demyelinati... |
OMIM:272200 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... |
OMIM:270550 |
| Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... |
OMIM:220200 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal sensory impairment, Segmental peripheral demyelination/remyelination, Axonal degeneration/... |
OMIM:607791 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Elevated circulating creatine kinase concentration, Cerebellar dysplasia, Dilate... |
ORPHA:370022 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal sensory impairment, Peripheral axonal neuropathy, Decreased number of large peripheral mye... |
OMIM:608673 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
| Adult Krabbe Disease |
|
Acroparesthesia, Abnormality of the medulla oblongata, Abnormal pons morphology, Gait disturbance... |
ORPHA:206448 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Nodular regenerative hyperplasi... |
ORPHA:64743 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Normochromic microcytic anemia |
OMIM:610198 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, CNS demyelination |
OMIM:249900 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic... |
ORPHA:231214 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Hepatomegaly, Elevated hepatic iron concentration, Neuronal loss in cen... |
OMIM:300868 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Gliosis, Leukodystrophy, Ataxia, Corpus callosum atrophy, Abn... |
OMIM:169500 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular ... |
ORPHA:231226 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia |
OMIM:612379 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Decreased circulating ferritin concentration, Polycythemia, Copper accumulation in ... |
ORPHA:309854 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Steppage gait, Perip... |
OMIM:600882 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... |
OMIM:615438 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Leukodystrophy, Ataxia, CNS hypomyelinati... |
OMIM:607694 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Dysmetria, Chorea, Peripheral demyelination, Torticollis, Spastic ataxia, Tip... |
ORPHA:397946 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, CNS demyelination, Peripheral demyelination, Gliosis, Increased... |
OMIM:220111 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia, Jaundice |
OMIM:105600 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:605285 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Dorsal column de... |
OMIM:164400 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Ataxia, Inab... |
OMIM:614831 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
| Tangier Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Peripheral axonal neuropathy, Impaired tem... |
OMIM:205400 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Gait disturbance, Axonal loss, Decreased nerve conduction velocity, Distal ... |
OMIM:601455 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Unsteady gait, Decreased number of peripheral myelinated nerve fibers, Tip-toe gait |
ORPHA:2386 |
| East Syndrome |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Hypokalemia, Hypomagnesemia, Peripheral hypomye... |
ORPHA:199343 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Spastic gait, Macular deg... |
OMIM:604360 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia |
ORPHA:90308 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Spinocerebellar atrophy, Retinal dystrophy, Ataxia, ... |
OMIM:215470 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Dystonia, Optic atrophy, Peripheral demyelination |
OMIM:618237 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Elevated circulating creatine kinase con... |
ORPHA:101082 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia |
ORPHA:27 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia |
OMIM:619423 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity, Distal sensory impai... |
OMIM:615284 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Motor conduction block, Impaired distal proprioception, Decreased number of large peripheral myel... |
ORPHA:99948 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Gait disturbance, Dystonia, Gallbladder dysfunction, Chorea, Peripheral demyelinat... |
OMIM:250100 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volu... |
OMIM:222470 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperhomocystinemia, Hypomethioninemia, Optic atrophy, Methylmalonic acidemia, Pigmentary retinop... |
ORPHA:79282 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... |
OMIM:220220 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Pontocerebellar atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affec... |
ORPHA:171629 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Inability to walk, Abnormal anterior hor... |
OMIM:611890 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:54028 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... |
ORPHA:66634 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Retinal dystrophy, Retinal thinn... |
OMIM:615960 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Cholestasis, Portal ... |
ORPHA:440713 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Motor axonal neuropathy, Facial palsy, Sensory axonal neuropathy, Distal sensory i... |
OMIM:256850 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Machado-Joseph Disease Type 3 |
|
Dystonia, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fourth ventricle, Degeneratio... |
ORPHA:276244 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia |
OMIM:613561 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Dilated fourth ventricle, Ataxia, Cerebellar ver... |
ORPHA:251347 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Elevated circulating creatine kinase concentration, Cranial ner... |
ORPHA:52430 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... |
OMIM:612319 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Ataxia, Cerebellar vermis atrophy, Diffu... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Distal sensory impairment, Fac... |
OMIM:601382 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hepatic steatosis, Microcytic anemia, Elevated hepatic transaminase, T ... |
ORPHA:2959 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Axonal loss, Peripheral demyelination, Gliosis, Ventriculomegaly, Cerebral atrophy |
OMIM:252160 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Dystonia, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Painless... |
OMIM:256810 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Distal sensory impairment, Axonal loss, Steppage gait |
OMIM:614455 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Cerebellar atrophy, Hypokalemia, Hypomagnesemia, Peripheral hypomyelination, Ataxia, Dysdiadochok... |
OMIM:612780 |
| Machado-Joseph Disease |
|
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Gliosis, Bradykinesia, Progressive cerebe... |
OMIM:109150 |
| Glutaric Acidemia I |
|
Dystonia, Hepatomegaly, Choreoathetosis, Symmetrical progressive peripheral demyelination, Elevat... |
OMIM:231670 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:616649 |
| Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Gait disturbance, Abnormality of retinal pigmentation, Abnormal peripheral myelination, Abnormal ... |
ORPHA:466768 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Waddling gait, Difficulty walking, Abnormal lower motor neuron morphology |
OMIM:611067 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:182900 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Paresthesia, Decreased number of large peripheral myelinated nerve fiber... |
ORPHA:101085 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Syndromic Diarrhea |
|
Hepatomegaly, Abnormality of iron homeostasis, Increased mean platelet volume, Thrombocytosis, He... |
ORPHA:84064 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cerebellar cyst, Elevated circulating creatine kinase concentration, Dilated fourt... |
ORPHA:370959 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, At... |
OMIM:615157 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dystonia, Elevated circulating creatine kina... |
OMIM:614298 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Dilated fourth ventricle, Bradykinesia, Rod-cone dystrophy, Progressive cerebellar ata... |
OMIM:183090 |
| Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Impaired vibration sensation at ankles, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:90103 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Spastic gait, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Ab... |
OMIM:205100 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia |
OMIM:250940 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... |
OMIM:109270 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Progressive cere... |
ORPHA:275872 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Gait disturbance, Peripheral axonal neuropathy, Paresthesia, Distal sensory impairment, Abnormal ... |
OMIM:263570 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Distal sensory... |
OMIM:609136 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia |
OMIM:236270 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy, Loss of ability ... |
OMIM:610532 |
| Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... |
OMIM:300972 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Retinal dystrophy, Ataxia, Delayed peripheral myelination, Waddling gait, Cerebral atro... |
ORPHA:464282 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Cirrhosis, Microcytic anemia, Hepatic failure, Cholecystitis, Portal hypertension |
ORPHA:774 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypouricemia, Axonal loss, Peripheral demyelination, Gliosis, Ventriculomegaly, Cerebral atrophy |
OMIM:252150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased serum pyruvate |
OMIM:619046 |
| Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Anemia, Hypochromic microcytic anemia, Hyperalaninemia |
OMIM:619147 |
| H Syndrome |
|
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Histiocytosis |
ORPHA:168569 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... |
OMIM:105550 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice |
OMIM:268150 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:252320 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... |
OMIM:256600 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Elevated circulating creatine kinase concentration, Amyotrophic lateral sclerosis, Difficulty wal... |
OMIM:613954 |
| Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Amyotrophic lateral sclerosis, Decreased nerv... |
OMIM:606070 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating histidine con... |
ORPHA:79096 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia |
OMIM:257790 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... |
ORPHA:541423 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... |
OMIM:277410 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Neurodegeneration, Ventriculomegaly, Ataxia, Hydrocephalus, Cerebellar hypoplasia,... |
OMIM:618476 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... |
ORPHA:1667 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Dystonia, Hepatomegaly, Chorea, Rod-cone dystrophy, Hyperalaninemia, Ataxia, Hepat... |
ORPHA:255210 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Neurodegen... |
OMIM:616239 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Cirrhosis, Hepatic failure, High noncer... |
OMIM:277900 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... |
OMIM:617948 |
| Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy, Neuronal loss in central nervous system, Cerebellar atr... |
OMIM:260565 |
| Trigeminal Neuralgia |
|
CNS demyelination, Paresthesia, Peripheral demyelination, Cranial nerve compression, Somatic sens... |
ORPHA:221091 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Cerebral cortical atrophy, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... |
OMIM:617751 |
| Machado-Joseph Disease Type 1 |
|
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Progressive... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dystonia, Cerebellar atrophy, Dilated fourth ventricle, Degeneration of the striatum, Progressive... |
ORPHA:276241 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Axonal degeneration, Inability to walk, Broad-based gait, Decreased... |
OMIM:615490 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of the optic nerve, Cerebel... |
ORPHA:99949 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... |
OMIM:218000 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Hepatomegaly, Anemia, Neutrophilia, Microcytic anemia |
ORPHA:99843 |
| Somatostatinoma |
|
Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia, Gallbladder dysfunction, Neoplasm of ... |
ORPHA:97283 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... |
ORPHA:89842 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... |
OMIM:619525 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Athetosis, Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Rod-cone dystrophy, Ventricul... |
ORPHA:572798 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
