| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ... |
ORPHA:446 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
| Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Copper accumulation in ... |
ORPHA:209919 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated... |
OMIM:616278 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Atransferrinemia |
|
Atransferrinemia, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... |
ORPHA:231222 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration... |
ORPHA:79278 |
| Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Null Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Demyelinating peripheral neuropathy, Decreased nerve cond... |
ORPHA:280234 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated hepatic transamina... |
OMIM:604250 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Ataxia, Abnormal pancreas morphology, Akinesia, Ret... |
ORPHA:48818 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Hepatomegaly, Splenomegaly |
OMIM:618852 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat... |
ORPHA:101330 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se... |
OMIM:602390 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory... |
OMIM:604484 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,... |
OMIM:606069 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... |
OMIM:600462 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... |
OMIM:618805 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration... |
OMIM:300752 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... |
OMIM:604416 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... |
ORPHA:206594 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... |
ORPHA:240094 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Cerebellar atroph... |
OMIM:617672 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... |
DECIPHER:29 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... |
OMIM:145900 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... |
ORPHA:101097 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:606483 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron |
OMIM:604290 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Acroparesthesia, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Progressive ga... |
ORPHA:208981 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
| Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... |
ORPHA:101111 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Optic neuritis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:251900 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Dista... |
OMIM:311070 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Hyperintensity of MRI T2 signal of the spinal cord, Sensory ataxia, Dec... |
OMIM:609033 |
| Cog2-Cdg |
|
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:435934 |
| Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... |
OMIM:118200 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Cerebral atrophy, Gait disturbance, Abnormal upper motor neuron morphology, Caudate atro... |
OMIM:221770 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia, Hepatomegaly |
OMIM:613977 |
| Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... |
OMIM:613280 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Distal sensory impairment, Steppage gait |
OMIM:615185 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... |
OMIM:619013 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Distal sensor... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Steppage gait |
OMIM:616039 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Optic neuritis, Myelitis, Somatic sensory dysfunction, P... |
ORPHA:71211 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sc... |
OMIM:224120 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
| Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration |
OMIM:121270 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Elevated hepatic transaminas... |
ORPHA:98870 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Positive Romberg sign, Distal sensory impairment, Optic atrophy, Gait ataxia, P... |
OMIM:258650 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Cerebellar vermis atrophy, Elevated circulating creatine kinase concentration, Dilated fo... |
OMIM:619054 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... |
ORPHA:95434 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... |
OMIM:607706 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Optic atrophy, ... |
OMIM:610951 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Difficulty walking, Steppage gait |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation |
OMIM:147530 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Hypermethioninemia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Dif... |
OMIM:615035 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
| Abetalipoproteinemia |
|
Ataxia, Retinal degeneration, Retinopathy, Abetalipoproteinemia, CNS demyelination, Peripheral de... |
OMIM:200100 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
| Krabbe Disease |
|
Hydrocephalus, Decreased nerve conduction velocity, Neurodegeneration, Optic atrophy, Diffuse cer... |
OMIM:245200 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Distal sensory impairment, Decreased nerve conduction velocity, Peripheral demy... |
ORPHA:99944 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia |
ORPHA:98764 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia, Reduced haptog... |
OMIM:105600 |
| Galloway-Mowat Syndrome 5 |
|
Brain atrophy, Ataxia, Ventriculomegaly, Peripheral demyelination |
OMIM:617731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination, Steppage gait |
OMIM:607736 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Ataxia, Hepatomegaly, Retinal degeneration, Cerebral atrophy, Splenomegaly, Ventri... |
OMIM:272200 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cir... |
ORPHA:465508 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Decreased number of large peripheral myelinated ... |
OMIM:270550 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... |
OMIM:235200 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Hypo... |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle, Truncal ataxia, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... |
OMIM:302800 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Elevated circulating C-reactive protein concentration, Ele... |
OMIM:619750 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... |
OMIM:607791 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Elevated circulating creatine kinase concentratio... |
ORPHA:370022 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis |
OMIM:610198 |
| Adult Krabbe Disease |
|
Broad-based gait, Abnormal pons morphology, Ataxia, Acroparesthesia, Abnormal medulla oblongata m... |
ORPHA:206448 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... |
OMIM:603471 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Chronic hepatitis, Hepatomegaly, Decreased serum iron |
OMIM:614602 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Gliosis, Ataxia, Leukodystrophy, Corpus callosum atrophy, Symmetr... |
OMIM:169500 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormal pons morphology, Gliosis, Hepatomegaly, Delayed myelination, Microvesicular hepatic stea... |
OMIM:300868 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Hepatomegaly, Micronodular cirrhosis, Jaundice, Spl... |
ORPHA:309854 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Tip-toe gait, Dysmetria, Chorea, Gait ataxia, Unsteady gait, Cerebellar atrophy... |
ORPHA:397946 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Gliosis, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, CNS d... |
OMIM:220111 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... |
OMIM:612561 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Dilated fourth ventricle, Inferior cere... |
OMIM:614831 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Chorea, Optic atrophy, Optic disc pal... |
OMIM:164400 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Peripheral ... |
OMIM:205400 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait |
ORPHA:2386 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated hepatic transaminase, Hypoalbuminemia, Decreased circulating copper concentra... |
OMIM:242150 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Retinal dystrophy, Gait ataxia, Abnormal upper motor neuron morp... |
OMIM:215470 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Retinal degeneration, Tip-toe gait, Macular degeneration, Impa... |
OMIM:604360 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
| East Syndrome |
|
Hypomagnesemia, Hypokalemia, Ataxia, Peripheral hypomyelination, Inability to walk, Peripheral ax... |
ORPHA:199343 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Hepatomegaly |
ORPHA:90308 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Peripher... |
ORPHA:101082 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia |
OMIM:612379 |
| Spinocerebellar Ataxia 25 |
|
Ataxia, Abolished vibration sense, Decreased number of peripheral myelinated nerve fibers, Cerebe... |
OMIM:608703 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairme... |
OMIM:615284 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
| Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic microcytic anemia |
OMIM:619423 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Spastic gait, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy |
OMIM:607641 |
| 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 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas,... |
OMIM:222470 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Chorioretinal atrophy, Dilated fourth ventricle, Partial absence of cerebellar ver... |
OMIM:220220 |
| Metachromatic Leukodystrophy |
|
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Chorea, Cholecystitis, Opti... |
OMIM:250100 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Ataxia, Severe demyelination of the white matter, Retinal degeneration, Cerebral a... |
ORPHA:79282 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... |
ORPHA:66634 |
| Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Portal hyperten... |
ORPHA:440713 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Corpus callosu... |
ORPHA:171629 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal thinning, Retinal dystrophy, Cerebellar vermis hypoplasia, Cere... |
OMIM:615960 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Inability to walk, Cerebral atrophy, Paucity of anterior horn motor neurons, Per... |
OMIM:611890 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/... |
OMIM:612319 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis, Cerebral atrophy, Axonal loss, Ventriculomegaly, Peripheral demyelination, Hypouricemia |
OMIM:252160 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, Abnormal motor neuron mo... |
ORPHA:52430 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Distal sensory impairment, Steppage gait, Axonal loss |
OMIM:614455 |
| Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Dilated fourth ventricle, Per... |
ORPHA:276244 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Rod-cone dystrophy, Impaired vibra... |
OMIM:183090 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly |
OMIM:613561 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, T lymphocytopenia, Elevated hepatic transaminase, Microcytic anemia, He... |
ORPHA:2959 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Inability to walk, Abnormality of retinal pigmentation, Brain at... |
ORPHA:466768 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Hypomagnesemia, Hypokalemia, Ataxia, Peripheral hypomyelination, Dysdi... |
OMIM:612780 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Dilated fourth ventricle, Chorea, Cerebellar vermis hypopl... |
ORPHA:251347 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Decreased number of large peripheral myelinated nerve fibers, Inability ... |
ORPHA:101085 |
| Majeed Syndrome |
|
Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hypochromic microcytic a... |
ORPHA:77297 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Sensory axonal neuropathy, Distal sensory impairment, Decreased n... |
OMIM:256850 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Distal sensory impairment, Gait disturbance, Abnormal upper motor n... |
OMIM:263570 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ataxia, Pain insensitivity, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure... |
OMIM:256810 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Optic nerve hypoplasia, Elevated circulating creat... |
ORPHA:370959 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Abn... |
ORPHA:84064 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
| Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... |
OMIM:619632 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Freezing of gait |
OMIM:619911 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Akinesia |
OMIM:618822 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia |
OMIM:250940 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, Loss of ambulation, Leukodystrophy, Onion bulb formation, Decreas... |
OMIM:610532 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Degeneration of t... |
ORPHA:275872 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia |
OMIM:236270 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis, Cerebral atrophy, Axonal loss, Ventriculomegaly, Peripheral demyelination, Hypouricemia |
OMIM:252150 |
| Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Ataxia, Retinal degeneration, Dilated fourth ventricle, C... |
OMIM:610688 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension |
ORPHA:774 |
| Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Limb ataxia, Impaired vibratory sensation, Dilate... |
OMIM:109150 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Ataxia, Demyelinating peripheral neuropat... |
OMIM:609136 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hyperalaninemia |
OMIM:619046 |
| Spinocerebellar Ataxia 21 |
|
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
OMIM:607454 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia |
OMIM:616084 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Increased serum pyruvate, Anemia, Hypochromic microcytic anemia |
OMIM:619147 |
| Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Cerebral atrophy, Retinal dystrophy, Difficulty walking, Delayed peripheral myelination, ... |
ORPHA:464282 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
| H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia |
ORPHA:168569 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... |
OMIM:105550 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:252320 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Elevat... |
OMIM:613954 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia |
OMIM:257790 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Cerebral cortical atrophy, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Peho Syndrome |
|
Optic atrophy, Neuronal loss in central nervous system, Peripheral dysmyelination, Cerebellar atr... |
OMIM:260565 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... |
ORPHA:79096 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, Acute hepatic... |
ORPHA:1667 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Hypocalcemia, Ataxia, Cerebellar hypoplasia, Neurodegeneration, Optic atrophy, Ven... |
OMIM:618476 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Ataxia, Loss of ambulation, Elevated circulating creatine kinase concentration, Neurodegeneration... |
OMIM:614298 |
| Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Gliosis, Neuronal loss in central nervous system, Decreased nerve conduction velocity, Ce... |
OMIM:256600 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
| Trigeminal Neuralgia |
|
Cranial nerve compression, Somatic sensory dysfunction, CNS demyelination, Paresthesia, Periphera... |
ORPHA:221091 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Gliosis, Elevated circulating creatine kinase concentrat... |
OMIM:616239 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
| Glutaric Acidemia I |
|
Hepatomegaly, Delayed myelination, Elevated circulating glutaric acid concentration, Choreoatheto... |
OMIM:231670 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Hepatomegaly, Rod-cone dystrophy, Hepatic failure, S... |
ORPHA:255210 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Inability to walk, Demyelinating peripheral neuropathy, Sensory ataxia, Decreased motor nerve con... |
ORPHA:99949 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Decreased serum zinc, Splenomegaly |
OMIM:201100 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... |
ORPHA:89842 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Microcytic anemia, Anemia |
ORPHA:99843 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... |
OMIM:615512 |
| Amyotrophic Lateral Sclerosis 21 |
|
