Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... |
OMIM:206200 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia |
OMIM:620085 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... |
OMIM:615631 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612924 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612926 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... |
ORPHA:98870 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... |
OMIM:612925 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... |
OMIM:613845 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... |
OMIM:235400 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... |
OMIM:274150 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... |
OMIM:616959 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... |
OMIM:615517 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia |
OMIM:611489 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Hypokalemia |
OMIM:604278 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia |
OMIM:300971 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Elevated circulating creatinine concentration, Anemia |
OMIM:620366 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia, Anemia |
OMIM:175500 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Colchicine Poisoning |
|
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia |
ORPHA:230 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... |
ORPHA:447 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:682 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia, Anemia |
OMIM:174900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis... |
OMIM:308240 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin... |
OMIM:613095 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hemolytic anemia, Hyperkalemia |
ORPHA:57 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:610600 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Anemia |
ORPHA:90321 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:203400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Normocytic anemia, Increased blood urea ni... |
ORPHA:49041 |
East Syndrome |
|
Increased circulating renin level, Hypokalemia, Hypomagnesemia |
ORPHA:199343 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Decreased circulating renin level, Hyperkalemia |
OMIM:614492 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis |
ORPHA:514 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Anemia |
OMIM:619377 |
Hepatocellular Carcinoma |
|
Liver abscess, Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocy... |
ORPHA:88673 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:177735 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... |
ORPHA:1667 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal ... |
ORPHA:79277 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Cholera |
|
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia |
ORPHA:173 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556037 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, Lymphopenia, Hypokalemia,... |
OMIM:619573 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis |
OMIM:617913 |
Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Hyperkalemia, Thrombocytopenia, Hyponatremia |
OMIM:617053 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556030 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Pearson Syndrome |
|
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Hyperalaninemia, Hypokalemia, Thro... |
ORPHA:699 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hyperammonemia, Abnormal lymp... |
ORPHA:99826 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia |
ORPHA:86843 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Increased circulating renin level, Hypokalemia, Hypomagnesemia |
OMIM:612780 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly |
OMIM:608885 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Hyperkalemia, Hyponatremia, Hy... |
ORPHA:199299 |
Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hyperchloriduria, Hypokalemia |
OMIM:607364 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... |
ORPHA:3337 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Lymp... |
OMIM:301074 |
Gitelman Syndrome |
|
Increased circulating renin level, Hypokalemia, Hypomagnesemia |
OMIM:263800 |
Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:171876 |
Cystinosis, Nephropathic |
|
Hypophosphatemia, Hypokalemia, Reduced blood urea nitrogen, Hypophosphatemic rickets, Hyponatremi... |
OMIM:219800 |
Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Anemia |
ORPHA:97362 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Thyrotoxic Periodic Paralysis |
|
Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
X-Linked Lymphoproliferative Disease |
|
Hepatosplenomegaly, Absent natural killer cells, Aplastic anemia, Hemophagocytosis, Granulomatosi... |
ORPHA:2442 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Vipoma |
|
Normochromic anemia, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... |
OMIM:601678 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Hemolytic anemia |
ORPHA:18 |
Bartter Syndrome Type 4 |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia |
ORPHA:769 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Anemia, Hypokalemia, Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypercholes... |
ORPHA:534 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Hyponatremia, ... |
ORPHA:95409 |
Gitelman Syndrome |
|
Hypermagnesemia, Hypokalemia, Hypocalcemia, Iron deficiency anemia, Hypomagnesemia |
ORPHA:358 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:427 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen, Anemia |
OMIM:233450 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... |
ORPHA:3261 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... |
OMIM:241200 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Anemia, Bone-marrow foam cells, Hyponatremia, Hyperka... |
ORPHA:275761 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Severe B lymphocytopenia, Abnormal lymphocyte morphology, Hyperkalem... |
ORPHA:293978 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Addison Disease |
|
Increased circulating renin level, Hyperuricemia, Normocytic anemia, Hyperkalemia, Thiamine-respo... |
ORPHA:85138 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Lymphocytosis, Decreased... |
OMIM:617718 |
Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
Infection-Related Hemolytic Uremic Syndrome |
|
Leukocytosis, Hemolytic anemia, Hyponatremia, Hyperkalemia, Thrombocytopenia, Hypocalcemia, Brain... |
ORPHA:544482 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... |
ORPHA:466677 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:423 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Anemia, Hyperphosphatemia, Hyperkalemia, Thrombocytopenia, Elevated circulating cre... |
ORPHA:340 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:90791 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Hypokalemia |
ORPHA:47159 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Leprechaunism |
|
Increased circulating renin level, Hypokalemia |
ORPHA:508 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Thrombocytop... |
ORPHA:466650 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein conc... |
ORPHA:50918 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Increased circulating renin level, ... |
ORPHA:289548 |
Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619991 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Hyponatremia, Hyperkalemia |
ORPHA:293987 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyponatremia, Hyperkalemia |
ORPHA:90794 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating renin level, Hyperkalemia |
OMIM:201750 |
Breast Cancer |
|
|
OMIM:114480 |