| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... |
OMIM:205950 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... |
OMIM:261000 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, Thrombocyto... |
OMIM:616216 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... |
ORPHA:90044 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... |
ORPHA:98870 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:300946 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... |
OMIM:206100 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... |
ORPHA:529799 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... |
OMIM:617021 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... |
OMIM:185000 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... |
OMIM:206200 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... |
OMIM:616860 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Thrombocytosis, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Hypotension... |
ORPHA:94093 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Arrhythmia |
OMIM:616949 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S... |
OMIM:615234 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... |
OMIM:615631 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Sickle Cell Anemia |
|
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... |
ORPHA:232 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... |
OMIM:612561 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Hyperten... |
ORPHA:2169 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertension, Increased blood urea nitrog... |
OMIM:613845 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... |
ORPHA:300298 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... |
OMIM:224120 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic ... |
OMIM:620152 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... |
OMIM:277410 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Hyponatremia, Thrombocytopenia, Cereb... |
ORPHA:83601 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Hyponatremia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Int... |
ORPHA:449285 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly, Portal hypertension |
OMIM:620367 |
| Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypsarrhythmia, Hypernatremia, Thrombocytopenia, Hyperglycinemia, EEG with burst suppression |
OMIM:620423 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... |
OMIM:300908 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... |
ORPHA:71275 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... |
OMIM:263300 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Atresia of the exte... |
OMIM:612562 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... |
OMIM:267700 |
| 16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Increased mean corpuscular volume, Optic nerve hypoplasia, Hearing impairme... |
ORPHA:261250 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Hypovolemia, Leuko... |
ORPHA:31824 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Pulmonary arteria... |
ORPHA:231222 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Leukopenia, Thr... |
OMIM:127550 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Myeloproliferative disorder, Abnormal erythro... |
ORPHA:100924 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Posttransplant Acute Limbic Encephalitis |
|
EEG with abnormally slow frequencies, Hyponatremia, EEG with focal epileptiform discharges, Abnor... |
ORPHA:163921 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Bilateral sensorineural hearing impairment, Increased HbA2 hemoglobin, Decreased mean corpuscular... |
OMIM:616943 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ... |
ORPHA:1930 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hypotension, Increased circulating renin level |
OMIM:620125 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
| Eisenmenger Syndrome |
|
Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave... |
ORPHA:97214 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... |
OMIM:603553 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... |
OMIM:301310 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Orthostatic hypotension, Increased circulating renin level |
OMIM:610600 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentration, B lymphocy... |
OMIM:619381 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Alg8-Cdg |
|
Optic atrophy, Anemia, Low-set ears, Hyponatremia, Thrombocytopenia |
ORPHA:79325 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Hypotension, Increased circulating renin level |
OMIM:203400 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Intracrania... |
OMIM:617053 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Hypertension, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona... |
ORPHA:90038 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... |
ORPHA:3240 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Porphyria Variegata |
|
Anemia, Hypertension, Abnormal autonomic nervous system physiology, Hyponatremia, Abnormal circul... |
ORPHA:79473 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... |
ORPHA:231214 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... |
OMIM:617519 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased circulating renin level,... |
OMIM:300539 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... |
OMIM:105650 |
| Necrotizing Enterocolitis |
|
Neutropenia, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Shock |
ORPHA:391673 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Whipple Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Anemia, Hypotension, Pericarditis, Hyponatremia, Spleno... |
ORPHA:3452 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent... |
ORPHA:682 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Hypotension, Increased circulating renin level |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hypotension |
OMIM:264350 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Hypertension, Anemia |
ORPHA:97362 |
| Generalized Pustular Psoriasis |
|
Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Le... |
ORPHA:247353 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbu... |
ORPHA:1667 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hyperuricemia, Hypotension, Hypona... |
ORPHA:199299 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypotension, Hypovolemia... |
ORPHA:95409 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Legionnaires Disease |
|
Myocarditis, Lymphopenia, Hypotension, Pericarditis, Hyponatremia, Splenomegaly, Arrhythmia |
ORPHA:549 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Hyponatremia, Arrhythmia |
ORPHA:171876 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hearing impairment, Hyponatremia, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin leve... |
ORPHA:427 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Increased pr... |
ORPHA:167 |
| Hereditary Coproporphyria |
|
Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration, Long hairs growing from ... |
ORPHA:79273 |
| Adenohypophysitis |
|
Hyponatremia, Sensorineural hearing impairment, Orthostatic hypotension, Normochromic anemia |
ORPHA:95512 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia |
ORPHA:464453 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... |
ORPHA:1215 |
| Shigellosis |
|
Myocarditis, Splenic abscess, Leukocytosis, Hypovolemic shock, Hyponatremia, Thrombocytopenia, Mi... |
ORPHA:810 |
| Panhypophysitis |
|
Hyponatremia, Sensorineural hearing impairment, Orthostatic hypotension, Normochromic anemia |
ORPHA:95513 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension |
ORPHA:199296 |
| Infant Botulism |
|
Chronic otitis media, Hypertension, Cardiac arrest, Hypotension, Hyponatremia |
ORPHA:178478 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Optic atrophy, Hyponatremia, Low-set ears |
OMIM:608688 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Hypot... |
ORPHA:275761 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru... |
OMIM:618278 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... |
OMIM:263400 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension, Normochromic anemia |
ORPHA:95613 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Castleman Disease |
|
Anemia, Elevated circulating C-reactive protein concentration, Restrictive cardiomyopathy, Thromb... |
ORPHA:160 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
| Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypovolemic shock, Hypotension, Hypo... |
ORPHA:173 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Bradycardia, Sensorineural hearing impairment, Hypo... |
ORPHA:91355 |
| Hartsfield Syndrome |
|
Low-set ears, Hypernatremia, Posteriorly rotated ears |
OMIM:615465 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Addison Disease |
|
Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypotension, Increased c... |
ORPHA:85138 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent otitis media, Abnormal lymphocyte morphology, Hypotension, Hyponatremia, Severe B lymph... |
ORPHA:293978 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Hyponatremia, Splenomegaly |
OMIM:617913 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
| Japanese Encephalitis |
|
Interictal epileptiform activity, Facial palsy, Hyponatremia, Neutrophilia, Decreased motor nerve... |
ORPHA:79139 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Rabin-Pappas Syndrome |
|
Retinal telangiectasia, Sensorineural hearing impairment, Optic nerve hypoplasia, Hyponatremia, C... |
OMIM:620155 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hyperkalemia, Hypocalcemia, Hypertension, Leukocytosis, Hypertensive crisis, Hyponat... |
ORPHA:544482 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Low-set ears, Hyponatremia, Hypomagnesemia, Hematochezia, Hyp... |
OMIM:618183 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Alg12-Cdg |
|
B lymphocytopenia, Abnormal pinna morphology, Sensorineural hearing impairment, Hyponatremia, Thr... |
ORPHA:79324 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Sensorineural hearing impairment, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat... |
ORPHA:98791 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Anemia, Hypertension, Absent brainstem auditory responses, Increased blood urea ni... |
ORPHA:90321 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypotension, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Familial Dysautonomia |
|
Optic atrophy, Orthostatic hypotension, Hypertension, Hyponatremia, Tachycardia |
ORPHA:1764 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hypovolemia, Hyponatremia, Hypophosphatemia, Hypocalcemi... |
ORPHA:411634 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Low-set ears, Overfolded helix, Persistence of hemoglobin F, Cupped ear |
OMIM:617101 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:90791 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
| Polycythemia Vera |
|
Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-... |
ORPHA:729 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Concentric hypertrophic cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:610505 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... |
ORPHA:79277 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Anemia, Low-set, posteriorly rotated ears, Hypokalemia, Hyponatremia, Throm... |
ORPHA:534 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Increased serum bile acid concentration, Hypertension, Low-set ears,... |
ORPHA:731 |
| Liver Disease, Severe Congenital |
|
Recurrent otitis media, Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia,... |
OMIM:619991 |
| Holoprosencephaly |
|
Optic atrophy, Abnormal antihelix morphology, Abnormal pinna morphology, Hyponatremia, Macrotia, ... |
ORPHA:2162 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Hypotension, Hypovolemia, Increased... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Hypotension, Hypovolemia, Increased... |
ORPHA:289548 |
| Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... |
ORPHA:330015 |
| Acute Intermittent Porphyria |
|
Tachycardia, Hyponatremia, Hypertension |
ORPHA:79276 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Bilateral sensorineural hearing impairment, Hypochloremia, Increased circulating ren... |
ORPHA:89938 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Sensorineural hearing impairment, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... |
ORPHA:101085 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Aganglionic megacolon, Anemia, Sensorineural hearing impairment, Abnormal hemoglobin |
ORPHA:847 |
| Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Sensorineural ... |
OMIM:301040 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... |
ORPHA:909 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hypochloremia, Hypotension, Hypovolemia, Hyponatremia, Shock |
ORPHA:90794 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... |
ORPHA:171929 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Sensorineural hearing impairment, Hyperlipidemia, Abnormal autonomic nervous system... |
ORPHA:293987 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Elevated 8(9)-cholesten... |
ORPHA:401973 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Decreased circulating renin level, Hypertension, Low-set ears, Hyponatremia, Conduc... |
OMIM:201750 |
| Alkaptonuria |
|
Hypertension, Aortic valve stenosis, Mitral stenosis, Hemolytic anemia, Mitral regurgitation, Myo... |
ORPHA:56 |
