| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... |
OMIM:620121 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... |
OMIM:615517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... |
OMIM:206100 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... |
OMIM:205950 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... |
OMIM:616860 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... |
ORPHA:53693 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... |
OMIM:615234 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
OMIM:603358 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Hemochromatosis, Neonatal |
|
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... |
OMIM:231100 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... |
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 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... |
OMIM:237800 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas... |
OMIM:613313 |
| X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,... |
ORPHA:75563 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated circulati... |
ORPHA:79230 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... |
ORPHA:139507 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Idiopathic Copper-Associated Cirrhosis |
|
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... |
ORPHA:209919 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Decreased t... |
ORPHA:300298 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... |
ORPHA:2133 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... |
OMIM:616278 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia, Atransferrinemia |
OMIM:209300 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Beta-Thalassemia |
|
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Abnormal... |
ORPHA:848 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho... |
ORPHA:231222 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... |
OMIM:206200 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Cholelithiasis, Abnormal circulating porphyrin concentration... |
ORPHA:79278 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Perip... |
OMIM:607250 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Tip-toe gait, Decreased liver function, Retinal dystrophy, Cerebellar vermis atrop... |
OMIM:614877 |
| Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... |
OMIM:600886 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulating... |
OMIM:604250 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| 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, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Aceruloplasminemia |
|
Limb ataxia, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
ORPHA:48818 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral atrophy, Increased hepatic glycogen content, Atrophy/Degeneration affecting the brainste... |
OMIM:614946 |
| Spinocerebellar Ataxia Type 43 |
|
Limb ataxia, Progressive cerebellar ataxia, Distal sensory impairment, Cerebellar vermis atrophy,... |
ORPHA:497764 |
| Porphyria Cutanea Tarda |
|
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... |
ORPHA:101330 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Protoporphyria, Erythropoietic, 2 |
|
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia |
OMIM:618015 |
| Null Syndrome |
|
Optic atrophy, Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Abnorm... |
ORPHA:280234 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... |
OMIM:212050 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G... |
OMIM:614895 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp... |
ORPHA:240094 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatomegaly, Anemia, Elevated transferrin saturation, Increased circulating ferritin ... |
OMIM:606069 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... |
OMIM:602390 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Hepatosplen... |
OMIM:604416 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Cerebral cortical atrophy, Ataxi... |
OMIM:617672 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... |
ORPHA:251380 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... |
OMIM:235700 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... |
OMIM:300752 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Distal sensory impairment, Axonal degeneration, Gliosis, Hyperlipidemia, Gait disturbance, Mildly... |
OMIM:604484 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... |
ORPHA:398063 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Difficulty walking, Paresthesia, Falls, Spontaneous pain sensation, Sensory ataxia, Unsteady gait... |
ORPHA:2932 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Distal sensory impairment, Impaired pain sensation, Axonal regeneration, Impaired ... |
OMIM:615185 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Axonal degeneration/regeneration, O... |
OMIM:606483 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... |
OMIM:604290 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... |
ORPHA:3202 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Distal sensory impairment, Hypertrophic nerve changes, Positive Romberg sign, Gait ataxia, Hypoes... |
OMIM:601098 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Caudate atrophy, Abnormal upper motor neuron morphology, Gliosis, Gait disturba... |
OMIM:221770 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati... |
OMIM:620378 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Spinocerebellar Ataxia Type 25 |
|
Progressive cerebellar ataxia, Distal sensory impairment, Impaired pain sensation, Gait ataxia, D... |
ORPHA:101111 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Abnormal mot... |
DECIPHER:29 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Broad-based gait, Impaired ... |
OMIM:145900 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating ceruloplasmin conc... |
OMIM:617395 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... |
OMIM:619013 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... |
OMIM:606482 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... |
ORPHA:75564 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Distal sensory impairment, Onion bulb formation, Gait disturbance, Rod-cone dystro... |
OMIM:311070 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Distal sensory impairment, Hypertrophic nerve changes... |
OMIM:214400 |
| Cog2-Cdg |
|
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:435934 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Impaired proprioception, Bone spicule pigmentation of the retina, Hyperintensity o... |
OMIM:609033 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Impaired pain sensation, Impaired d... |
OMIM:618279 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Hypoplasia of the ... |
OMIM:620542 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... |
OMIM:118200 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... |
OMIM:616689 |
| Sickle Cell Anemia |
|
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... |
ORPHA:232 |
| Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate... |
OMIM:613280 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Demyelinating motor neuropathy, Steppage gait, Difficulty walking, Distal sensory impairment, Pos... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Decreased n... |
OMIM:118210 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... |
OMIM:261000 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Difficulty walking, Distal sensory impairment, Gait imbalance, Impaired tactile sensation, Impair... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Distal sensory impairment, Onion bulb formation |
OMIM:616039 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Clusters of ax... |
OMIM:607734 |
| Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Neuronal loss in central nervous system, Optic neuritis, Somatic sensory dysfunction, P... |
ORPHA:71211 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal sensory impairment, Hypertrophic nerve changes, Gait ataxia, Decreased number of periphera... |
OMIM:180800 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Macrocytic dyserythropoietic a... |
OMIM:224120 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Distal sensory impairment, Waddling gait, Unsteady gait, Decreased nu... |
OMIM:609311 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... |
ORPHA:98870 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... |
OMIM:615376 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,... |
ORPHA:95434 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia |
OMIM:312500 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... |
OMIM:118220 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test |
OMIM:229100 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... |
OMIM:607731 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli... |
OMIM:607677 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Distal sensory impairment, Axonal degeneration, Truncal ataxia, Chorea, Cerebellar a... |
OMIM:208920 |
| Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration |
OMIM:121270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Sensory axonal neuropathy, Cerebellar vermis atrophy, Elevated circulating creatine kinase concen... |
OMIM:619054 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... |
OMIM:610951 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Elevated circulating alanine aminot... |
OMIM:257200 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Steppage gait, Difficulty walking, Distal sensory impairment, Peripheral axonal ne... |
OMIM:615035 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Anemia, Reduced hematocrit, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... |
OMIM:613673 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Unsteady gait, Dysesthesia, Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia |
ORPHA:98764 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Hypermethioninemia, Peripheral demyelination |
OMIM:250850 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia |
OMIM:608898 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Difficulty walking, Distal sensory impairment, Axonal degeneration, Abnormal cranial nerve morpho... |
OMIM:601596 |
| Tangier Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... |
OMIM:205400 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Steppage gait, Peripheral axonal neuropathy, Impaired distal vibration sensation, Impaired distal... |
OMIM:610100 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia, Increased cir... |
OMIM:600462 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, CNS demyelination, Retinopathy, Ataxia, Retinal degeneration, Peripheral de... |
OMIM:200100 |
| Multiple Sulfatase Deficiency |
|
Cerebral atrophy, Hepatomegaly, Hydrocephalus, Cerebellar atrophy, CNS demyelination, Ataxia, Spl... |
OMIM:272200 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Cerebellar vermis atrophy, Gliosis, Gait ataxia, Dilated fourth ventricle, Ataxia, U... |
OMIM:213200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Peripheral demyelination |
OMIM:607736 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired pain sensation, Impaired distal vibration sensation, Decreased number of peripheral myel... |
OMIM:607706 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Decreased number of peripheral myel... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... |
OMIM:617087 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Anemia of inadequate production, Congenit... |
OMIM:105600 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinate... |
OMIM:609260 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia, Peripheral axo... |
OMIM:604168 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Ataxia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Elevated circulating C-reactive protein concentration, Ele... |
OMIM:619750 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... |
OMIM:235200 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... |
ORPHA:64743 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... |
OMIM:607791 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Distal sensory impairment, Peripheral demyelination |
ORPHA:99944 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morphol... |
OMIM:169500 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ner... |
OMIM:618184 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers,... |
OMIM:605588 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepat... |
ORPHA:465508 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R... |
ORPHA:370022 |
| Adult Krabbe Disease |
|
Broad-based gait, Impaired tactile sensation, Gait disturbance, Abnormal medulla oblongata morpho... |
ORPHA:206448 |
| Krabbe Disease |
|
Optic atrophy, Hydrocephalus, CNS demyelination, Diffuse cerebral atrophy, Neurodegeneration, Per... |
OMIM:245200 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... |
OMIM:617780 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the brainstem, Sensory... |
OMIM:271245 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... |
OMIM:615550 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Loss of ambulation, Peripheral demyelination, Gait ataxia |
OMIM:249900 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... |
OMIM:601775 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Axonal regeneration, Difficulty walking, Onion bulb formation, Distal sensory impairment |
OMIM:608323 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spastic gait, Distal sensory impairment, Onion bulb formation, Falls, Cerebellar vermis atrophy, ... |
OMIM:270550 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,... |
OMIM:615438 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... |
ORPHA:2585 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Difficulty walking, Distal sensory impairment, Axonal degeneration, Cerebellar atro... |
OMIM:302800 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated circulating alanine am... |
OMIM:610198 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Tip-toe gait, Chorea, Cerebellar atrophy, Gait ataxia, Unsteady gait, Spastic a... |
ORPHA:397946 |
| Dominant Beta-Thalassemia |
|
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... |
ORPHA:231226 |
| Trichohepatoenteric Syndrome 2 |
|
Chronic hepatitis, Cirrhosis, Hepatomegaly, Decreased circulating iron concentration |
OMIM:614602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Steppage gait, Distal sensory impairment, Impaired pain sensation, Facial palsy, Impaired distal ... |
OMIM:607684 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Distal sensory impairment, Decreased number of large peripheral mye... |
OMIM:608673 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit... |
ORPHA:231214 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Segmental peripheral demyelination/remyelination, Hypoesthesia |
OMIM:162500 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Neuronal loss in central nervous system, Micro... |
OMIM:300868 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Increased total iron binding capacity, Hepatomegaly, Elevated circulating hepatic trans... |
ORPHA:309854 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... |
OMIM:603471 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... |
OMIM:612561 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Steppage gait, Distal sensory impairment, Elevated circulating creatine kinase concentration, Oni... |
OMIM:614455 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Cerebellar atrophy,... |
OMIM:614831 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Peripheral hypomyelination, Distal sensory impairment, Gait disturbance, Onion bulb formation, Ax... |
OMIM:611228 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Tip-toe gait, Macular degeneration, Impaired vibration sensation in the lower limbs... |
OMIM:604360 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Peripheral hypomyelination, Difficulty walking, Distal sensory impairment, Axonal regeneration, D... |
OMIM:605285 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Impaired distal proprioception, Impaired distal vibration sensation, G... |
OMIM:601455 |
| Boucher-Neuhauser Syndrome |
|
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Cerebellar at... |
OMIM:215470 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Gait ataxia |
ORPHA:98773 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, Unsteady gait, Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait |
ORPHA:391411 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| East Syndrome |
|
Peripheral hypomyelination, Difficulty walking, Inability to walk, Hypokalemia, Peripheral axonal... |
ORPHA:199343 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Impaired distal tactile se... |
OMIM:600882 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Ataxia, Spastic ataxia, Increased intramyocellular lipid ... |
OMIM:614487 |
| Srd5A3-Cdg |
|
Elevated circulating hepatic transaminase concentration, Microcytic anemia |
ORPHA:324737 |
| Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... |
OMIM:242150 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal... |
OMIM:185000 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ... |
ORPHA:98856 |
| Spinocerebellar Ataxia 25 |
|
Impaired pain sensation, Abolished vibration sense, Cerebellar atrophy, Ataxia, Decreased number ... |
OMIM:608703 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Distal sensory impairment, Brain atrophy, Gait disturbance, Loss of ambulation, Onion bulb format... |
OMIM:615284 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Ataxia, Retinal dysplasia |
OMIM:615771 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... |
OMIM:251900 |
| Rh Deficiency Syndrome |
|
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... |
ORPHA:71275 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated circulating hepatic transaminase concentration, Microcytic anemia |
OMIM:612379 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Hyperammonemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa... |
OMIM:607080 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia |
ORPHA:90308 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... |
OMIM:612714 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation |
OMIM:605253 |
| Cryohydrocytosis |
|
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia |
OMIM:185020 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
| Spinocerebellar Ataxia 1 |
|
Optic atrophy, Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Spinocerebell... |
OMIM:164400 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ... |
OMIM:619991 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... |
OMIM:301310 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Peripheral hypomyelination, Chorea, Cerebral cortical atrophy, Ataxia, Ventriculomegaly, Dysmetri... |
ORPHA:48431 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Jaundice, Abnormality of iron homeostasis, Abnormality of the pancreas, Hepatomegaly, ... |
OMIM:222470 |
| 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 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Elevated circulating creatine kinase concentration, Peripheral axonal neuropathy, Somatic sensory... |
ORPHA:101082 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Elevated circulating creatine kinase concentration, Methylmalonic acidemia, Microcytic anemia |
OMIM:612073 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... |
OMIM:611881 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Throm... |
OMIM:617021 |
| Foxp1 Syndrome |
|
Decreased circulating iron concentration |
ORPHA:391372 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypochromic microcytic anemia, Elevated circulating hepatic transaminase concentration, Microvesi... |
ORPHA:66634 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot... |
OMIM:617093 |
| Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin concentration |
ORPHA:54028 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Cerebral atrophy, Optic atrophy, Macular coloboma, Methylmalonic acidemia, Jaundice, Hyperhomocys... |
ORPHA:79282 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Inability to walk, Distal sensory impairment, Impaired distal proprioc... |
ORPHA:99948 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Lethal Congenital Contracture Syndrome 8 |
|
Peripheral hypomyelination, Facial diplegia, Distal sensory impairment |
OMIM:616287 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal sensory impairment, Facial palsy, Myelin outfoldings, Irregular myelin loops |
OMIM:601382 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Pontocerebellar atrophy, Difficulty walking, Atrophy/Degeneration affecting the br... |
ORPHA:171629 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Retinal dystrophy, Brain atrophy, Cereb... |
OMIM:620428 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Hypomethion... |
OMIM:236270 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:601859 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Brain atrophy, Sensory axonal neuropathy, Waddling gait, Elevat... |
ORPHA:52430 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Retinal atrop... |
OMIM:615960 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ... |
OMIM:611890 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dandy-Walker malformation, Truncal ataxia, Chorioretinal atrophy, Dilated fourth v... |
OMIM:220220 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Difficulty walking, Atrophy/Degeneration affecting the brainstem, Dysdiadochokines... |
OMIM:612319 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Gallbladder dysfunction, Chorea, Gait disturbance, Ataxia, Cholecystitis, Peripher... |
OMIM:250100 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... |
OMIM:616959 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613561 |
| Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Degeneration of the striatum, Peripheral axonal neuropathy, Cerebe... |
ORPHA:276244 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
OMIM:611067 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... |
OMIM:620603 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, T lymphocytope... |
ORPHA:2959 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... |
OMIM:620135 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Dilated fourth ventricle, Diffuse cer... |
ORPHA:1170 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... |
ORPHA:77297 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... |
OMIM:613839 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Spinocerebellar Ataxia 2 |
|
Limb ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebellar atrophy, Dilated fourt... |
OMIM:183090 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Cerebral atrophy, Hypouricemia, Gliosis, Diffuse cerebral atrophy, Ventriculomegaly, Peripheral d... |
OMIM:252160 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dilate... |
ORPHA:251347 |
| Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... |
OMIM:259720 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... |
OMIM:301083 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:3240 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Distal sensory impairment, Sensory axonal neuropathy, Facial palsy, Abnormal cereb... |
OMIM:256850 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
| Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morpho... |
ORPHA:100070 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Symmetrical progressive peripheral demyelination, Elevated circulati... |
OMIM:231670 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Elevat... |
ORPHA:370959 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Glio... |
ORPHA:275872 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating motor neuropathy, Limb ataxia, Demyelinating sensory neuropathy, Steppage gait, Imp... |
ORPHA:101085 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Peripheral hypomyelination, Chronic axonal neuropathy, Hypokalemia, Dysdiadochokinesis, Cerebella... |
OMIM:612780 |
| Spinocerebellar Ataxia 21 |
|
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Ataxia |
OMIM:607454 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Spherocytosis, Type 2 |
|
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... |
OMIM:616649 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tip-toe gait, Difficulty walking, Inability to walk, Impaired tactile sensation, Sensory axonal n... |
ORPHA:466768 |
| Spherocytosis, Type 4 |
|
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Syndromic Diarrhea |
|
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Hypoplasia of the thymus, Increased mea... |
ORPHA:84064 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Hypouricemia, Gliosis, Ventriculomegaly, Peripheral demyelination, Axonal loss |
OMIM:252150 |
| Immunodeficiency 47 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem... |
OMIM:300972 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... |
OMIM:182900 |
| Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Hepatic fibrosis, Bile duct... |
OMIM:610688 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Axonal degeneration, Pallor of dorsal columns of the spinal cord, Atrophy of ... |
OMIM:602433 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Distal sensory impairment, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, ... |
OMIM:263570 |
| Trigeminal Neuralgia |
|
Cranial nerve compression, CNS demyelination, Somatic sensory dysfunction, Peripheral demyelinati... |
ORPHA:221091 |
| Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... |
OMIM:619632 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination, Distal sensory impairment,... |
OMIM:609136 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... |
OMIM:275350 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia |
OMIM:619046 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Increased serum pyruvate, Anemia, Hyperalaninemia |
OMIM:619147 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... |
OMIM:105550 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Difficulty walking, Retinal dystrophy, Waddling gait, Ataxia, Unsteady gait, De... |
ORPHA:464282 |
| Machado-Joseph Disease |
|
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Gliosis, Cerebellar atrophy, Dilated ... |
OMIM:109150 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... |
ORPHA:541423 |
| Corticobasal Syndrome |
|
Akinesia, Gait disturbance |
ORPHA:454887 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Elevated circulating creatine kinase concentration, Abnormal lower motor neuron morphology, Amyot... |
OMIM:613954 |
| H Syndrome |
|
Hypertriglyceridemia, Histiocytosis, Hepatosplenomegaly, Microcytic anemia |
ORPHA:168569 |
| Peho Syndrome |
|
Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Peripheral dysmyelina... |
OMIM:260565 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Broad-based gait, Truncal ataxia, Gait ataxia, Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Spastic gait, Loss of ambulation, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... |
OMIM:302060 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Cerebellar atrophy, Elevated circulating creatine kinase concentration, Gait distu... |
OMIM:614298 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c... |
OMIM:620481 |
| Von Willebrand Disease |
|
Thrombocytopenia, Microcytic anemia |
ORPHA:903 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... |
ORPHA:1667 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:603909 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f... |
OMIM:607831 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased circulating carnitine concentration, Decreased circulating iron concentration, ... |
ORPHA:89842 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, Loss of ambulation, CNS hypomyelination, Onion bulb formation, Le... |
OMIM:610532 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Hepatomegaly, Demyelinating peripheral neuropathy, Chorea, Hyperalaninemia, Pigmen... |
ORPHA:255210 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
ORPHA:2590 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Inability to walk, Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Facial dipl... |
OMIM:218000 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... |
OMIM:277410 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Demyelinating peri... |
ORPHA:99949 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor... |
ORPHA:79096 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Cerebral atrophy, Ataxia, Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... |
ORPHA:906 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... |
OMIM:619525 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Microcytic anemia |
ORPHA:99843 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Decreased serum zinc |
OMIM:201100 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro... |
OMIM:615512 |
| Machado-Joseph Disease Type 1 |
|
Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth v... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth v... |
ORPHA:276241 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hypometh... |
ORPHA:2169 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia, Refractory si... |
OMIM:557000 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Optic atrophy, Neuronal loss in central nervous system, Gliosis, Cerebellar atr... |
OMIM:256600 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Impaired vibration sensation at ankles, Decreased number of large peripheral myelinated nerve fib... |
ORPHA:90103 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Impaired vibration sensation in ... |
ORPHA:320406 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... |
OMIM:614857 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Akinesia, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Ataxia |
ORPHA:247234 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Amyotrophic Lateral Sclerosis 21 |
|
Distal sensory impairment, Abnormal upper motor neuron morphology, Elevated circulating creatine ... |
OMIM:606070 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch... |
ORPHA:97283 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia, Neutropenia |
OMIM:250940 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Peripheral axona... |
ORPHA:254930 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... |
ORPHA:98849 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral atrophy, Difficulty walking, Cerebellar vermis hypoplasia, Athetosis, Cerebellar atrophy... |
ORPHA:572798 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Inability to walk, Lateral ventricle dilatation |
OMIM:613443 |
| Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
| Perry Syndrome |
|
Akinesia, Short stepped shuffling gait |
OMIM:168605 |
| Attrv122I Amyloidosis |
|
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... |
ORPHA:85451 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepatome... |
OMIM:212065 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... |
OMIM:617751 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of... |
OMIM:612562 |
| Manganese Poisoning |
|
Akinesia, Gait disturbance |
ORPHA:306682 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tip-toe gait, Jaundice, Elevated circulating hepatic transaminase concentration, Broad-based gait... |
OMIM:619475 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Cholestasis, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, Micronodular cirrhosis, ... |
OMIM:256810 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Akinesia, Gait imbalance, Falls |
ORPHA:240071 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Ataxia, Gait disturbance |
OMIM:606693 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Akinesia, Choreoathetosis |
OMIM:618249 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... |
ORPHA:298 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Truncal ataxia, Microvesicular hepatic steatosis, Gliosis, CNS demy... |
OMIM:220111 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia |
OMIM:300894 |
| Cockayne Syndrome A |
|
Cerebral atrophy, Optic atrophy, Normal pressure hydrocephalus, Hepatomegaly, Retinal atrophy, Ce... |
OMIM:216400 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Elevated circulating creatine kinase concentration, Sideroblastic anemia, Leukopenia, Inc... |
OMIM:255125 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Brain atrophy, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventri... |
ORPHA:3078 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Inability to walk, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Athetosis, Dilated fo... |
ORPHA:357058 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro... |
OMIM:618886 |
| Primary Lateral Sclerosis |
|
Spastic gait, Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Motor axonal ne... |
ORPHA:35689 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia |
ORPHA:2575 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic an... |
OMIM:277380 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
| Wilson Disease |
|
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... |
OMIM:277900 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... |
ORPHA:470 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Jaundice, Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentrat... |
ORPHA:447 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Distal sensory impairment, Impaired distal proprioception, Impaired di... |
OMIM:162400 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase conce... |
ORPHA:811 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Cholel... |
OMIM:618775 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F |
OMIM:619769 |
| Slc39A8-Cdg |
|
Abnormal blood zinc concentration, Abnormality of the liver, Hypomanganesemia |
ORPHA:468699 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevat... |
OMIM:610377 |
| Asparagine Synthetase Deficiency |
|
Global brain atrophy, Hypoasparaginemia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Di... |
OMIM:615574 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Mildly elevated creatine kinase, Abnormal anterior horn cell... |
ORPHA:1145 |
| Neuromuscular Oculoauditory Syndrome |
|
Peripheral hypomyelination, Sensory axonal neuropathy, Elevated circulating creatine kinase conce... |
OMIM:618733 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spastic gait, Tip-toe gait, Difficulty walking, Abnormal upper motor neuron morphology, Ataxia, A... |
OMIM:205100 |
| Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Iron deficiency anemia |
OMIM:607906 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating... |
OMIM:256040 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia, H... |
ORPHA:199299 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Hypophosphatemia, Splenomegaly, ... |
ORPHA:289157 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Abnormality of the hepatic vasculature, Nodular regenerat... |
ORPHA:247691 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Dilated fourth ventricle, Ventriculomegaly |
ORPHA:171680 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus |
ORPHA:96123 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Thro... |
OMIM:617941 |
| Sickle Cell Disease |
|
Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... |
OMIM:603903 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased serum thromboxane B2, Abnormal circulating eicosanoid concentration, Iron deficiency an... |
OMIM:618372 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Gait ataxia, Corpus callo... |
OMIM:601162 |
| Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Optic atrophy, Normal pressure hydrocephalus, Hepatomegaly, Cerebellar calcific... |
OMIM:133540 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral myelination, Steppage gait, Abnormal peripheral nerve morphology by anatomica... |
ORPHA:168563 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... |
OMIM:208085 |
| Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... |
OMIM:269200 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
| Vexas Syndrome |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocytic anemi... |
OMIM:212750 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... |
ORPHA:37042 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Postencephalitic Parkinsonism |
|
Akinesia |
ORPHA:97349 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... |
OMIM:260400 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
| Vipoma |
|
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Hypokalemi... |
ORPHA:97282 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Leukocytosis |
ORPHA:51890 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Dandy-Walker malformation, Malformation of the hepatic ductal plate, Ce... |
OMIM:614175 |
| Zaki Syndrome |
|
Spastic gait, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Unsteady gait, Patent ductu... |
OMIM:619648 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia, Anemia |
OMIM:618882 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... |
OMIM:250250 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Impaired temper... |
ORPHA:64752 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Syringomyelia, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers,... |
ORPHA:477817 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... |
OMIM:618278 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... |
ORPHA:456312 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Accessory spleen, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Di... |
OMIM:619306 |
| Diamond-Blackfan Anemia 10 |
|
Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia |
OMIM:613309 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... |
ORPHA:97214 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Abnormality of neutrophils, Leukemia |
ORPHA:33226 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613990 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
| Arima Syndrome |
|
Optic atrophy, Cirrhosis, Hepatomegaly, Retinal dystrophy, Cerebellar vermis hypoplasia, Dilated ... |
OMIM:243910 |
| Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, CNS demyelination, Abnormal oligodendroglia morphology, Somatic sensory dysfunction,... |
ORPHA:217260 |
| Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Shuffling gait |
ORPHA:411602 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Tip-toe gait, Difficulty walking, Distal sensory impairment, Inability to walk, My... |
ORPHA:99956 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Facial palsy, Hyponatremia, Abnormal pons mor... |
ORPHA:79139 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Glucagonoma |
|
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Acanthocyt... |
ORPHA:97280 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
| Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... |
ORPHA:330015 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Gait imbalance, Falls |
OMIM:609454 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal mesentery morphology, Abnormality of the spleen |
ORPHA:93941 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic nerve hypoplasia, Retinal coloboma, Dilated fourth ventricle, Hypoplasia of the pons, Cereb... |
OMIM:300749 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... |
ORPHA:95409 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Distal sensory impairment, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia |
OMIM:608013 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein... |
OMIM:301074 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
| Choreoacanthocytosis |
|
Hepatomegaly, Falls, Frontal cortical atrophy, Peripheral axonal neuropathy, Chorea, Elevated cir... |
ORPHA:2388 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers |
OMIM:201300 |
| Peutz-Jeghers Syndrome |
|
Biliary tract abnormality, Bile duct polyp, Neoplasm of the pancreas, Iron deficiency anemia |
OMIM:175200 |
| Addison Disease |
|
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... |
ORPHA:85138 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia... |
OMIM:277400 |
| Spinal Cord Injury |
|
Allodynia, Hypercalcemia |
ORPHA:90058 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia |
ORPHA:95613 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Pulmonary Arteriovenous Malformation |
|
Liver abscess, Iron deficiency anemia, Brain abscess |
ORPHA:2038 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ataxia |
ORPHA:261183 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Gait imbalance, Falls |
OMIM:601104 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia |
OMIM:530000 |
| Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Hyperechogenic pancreas, Abnormal optic nerve morphology, Delayed peri... |
OMIM:605039 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, He... |
ORPHA:100075 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hyperuricemia |
OMIM:300322 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
| Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Gait disturbance, Choreoathetosis |
OMIM:234200 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia |
ORPHA:79351 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hypoplastic spl... |
OMIM:620642 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
| Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Macrocytic anemia |
OMIM:614294 |
| Sarcoidosis |
|
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Increased T... |
ORPHA:797 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ... |
ORPHA:49041 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Normochromic anemia, Chronic active hepatitis, Biliary cirrhosis, Chronic hepa... |
ORPHA:289390 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Dpagt1-Cdg |
|
Akinesia, Ataxia, Inability to walk |
ORPHA:86309 |
| Revesz Syndrome |
|
Aplastic anemia, Macrocytic anemia, Neutropenia |
OMIM:268130 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Decreased number of... |
OMIM:223900 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Asplenia, Dilated f... |
OMIM:249000 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Decreased circulating iron concentration |
ORPHA:438213 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anemia, Iron deficiency anemia, Decreased serum zinc, Abnormal circulating selenium concentration... |
ORPHA:79408 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, Extrahepatic cho... |
ORPHA:100078 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Perianal abscess |
OMIM:618213 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Alkaptonuria |
|
Abnormal heart valve morphology, Mitral valve calcification, Aortic valve stenosis, Mitral stenos... |
ORPHA:56 |
| Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation, Patent duct... |
OMIM:619869 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Iron deficiency anemia |
ORPHA:309031 |
| Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity |
OMIM:256800 |
| Gitelman Syndrome |
|
Hypermagnesemia, Neoplasm of the pancreas, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... |
ORPHA:358 |
| Degcags Syndrome |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Cholestasis, Abno... |
OMIM:619488 |
| African Trypanosomiasis |
|
Akinesia, Difficulty walking, Gait disturbance, Abnormality of circulating cortisol level, Choreo... |
ORPHA:3385 |
| Orofaciodigital Syndrome Type 14 |
|
Dandy-Walker malformation, Dilated third ventricle, Retinal coloboma, Dilated fourth ventricle, A... |
ORPHA:434179 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst |
OMIM:620371 |
| Ogden Syndrome |
|
Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicular hepatic steato... |
OMIM:300855 |
| Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
| Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concen... |
OMIM:603041 |
| Fanconi Anemia |
|
Anemia, Leukopenia, Thrombocytopenia, Abnormality of the liver, Pyridoxine-responsive sideroblast... |
ORPHA:84 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Difficulty walking, Cerebellar vermis hypoplasia, Brain atrophy, Dandy-Walker malformation, Cyst ... |
ORPHA:480880 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia |
ORPHA:261584 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Elevated circulating C-reactive protein concentration, Nor... |
ORPHA:91500 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Hepatosplenomegaly, Splenomegaly, Narcolepsy |
ORPHA:646 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Narcolepsy |
ORPHA:293987 |
| Pmm2-Cdg |
|
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, Re... |
ORPHA:79318 |
