| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... |
OMIM:619868 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
ORPHA:94124 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia |
OMIM:607250 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypermethio... |
OMIM:613752 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Obesity, Hyperphosphatemia |
OMIM:603233 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Immunodeficiency 115 With Autoinflammation |
|
Anemia, Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, T lymp... |
OMIM:620632 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia, Broad-based gait |
OMIM:618805 |
| Immunodeficiency 27A |
|
Anorexia, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia, T... |
OMIM:209950 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia, Anemia |
OMIM:603278 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, T... |
OMIM:616050 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Refractory Celiac Disease |
|
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... |
ORPHA:398063 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Leishmaniasis |
|
Anorexia, Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight ... |
ORPHA:507 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Hyperpro... |
OMIM:239500 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Increased body weight, Hypercalcemia |
ORPHA:94086 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... |
OMIM:267700 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Ata... |
OMIM:208920 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... |
OMIM:226990 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia |
OMIM:609153 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia,... |
OMIM:246700 |
| Eosinophilic Gastroenteritis |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Dyspha... |
ORPHA:2070 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:143860 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Dysphagia, Elevated c... |
ORPHA:64753 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula... |
ORPHA:103910 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight, Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
| Calciphylaxis |
|
Cellulitis, Hyperphosphatemia |
ORPHA:280062 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni... |
OMIM:617021 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Enamel hypoplasia, Obesity, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
| Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Ataxia |
ORPHA:79320 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevated circulating... |
OMIM:608104 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... |
OMIM:308240 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... |
OMIM:603553 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
| Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... |
ORPHA:94093 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:36913 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration, ... |
OMIM:617872 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Elevated circulating creatinine concentration, Anemia |
OMIM:620366 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Transient hypophosphatemia, Hypocalcemia, Hyperphosphatemia, Small for gestational age |
OMIM:127000 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hypocalcemia, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:94089 |
| Dent Disease 2 |
|
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration, Umbilical he... |
OMIM:300555 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Obesity, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Wolcott-Rallison Syndrome |
|
Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body wei... |
ORPHA:1667 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Neutropenia, Anemia, Hyperuricemia |
OMIM:617056 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hemolytic anemia |
ORPHA:57 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra... |
ORPHA:158061 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... |
ORPHA:86816 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperuricemia, Failure to thrive, Hydroxyprolinuria, Hyperphosphatemia, Macula... |
OMIM:239000 |
| Immunodeficiency 43 |
|
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... |
OMIM:241600 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... |
ORPHA:682 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Hyperlysinemia, Type I |
|
Argininuria, Anemia, Hyperactivity, Dysdiadochokinesis, Hyperlysinemia, Hypoornithinemia, Ornithi... |
OMIM:238700 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... |
ORPHA:90362 |
| Saccharopinuria |
|
Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperamm... |
ORPHA:3124 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia |
ORPHA:529799 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... |
OMIM:613673 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration, Aggr... |
OMIM:612736 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Gait ataxia, Thrombocytopenia, Dysphagia, Unsteady gait, Hypoalbuminemia |
OMIM:254900 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... |
ORPHA:766 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age |
OMIM:256300 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... |
ORPHA:247353 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni... |
ORPHA:292 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612926 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Calcinosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
| Hepatoportal Sclerosis |
|
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... |
ORPHA:64743 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612924 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased circulating carnitine concentration, Decreased body weight, Atypical scarring o... |
ORPHA:89842 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Cystinosis |
|
Polydipsia, Hypokalemia, Gait disturbance, Failure to thrive, Hypophosphatemia, Motor stereotypy,... |
ORPHA:213 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Lymphopenia |
OMIM:617575 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypocystinemia, Hypohomocysteinemia |
OMIM:617744 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... |
OMIM:612925 |
| Relapsing Fever |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... |
ORPHA:91547 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia |
ORPHA:2323 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Anorexia, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean cor... |
OMIM:611590 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocyto... |
OMIM:608885 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age |
OMIM:616733 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ... |
ORPHA:540 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... |
ORPHA:88618 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Iron deficiency anemia, Hypophosphatemia |
ORPHA:89937 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Steppage gait, Anemia, Hypotriglyceridemia, Broad-based ... |
ORPHA:14 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Hyperactivity |
OMIM:615924 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:179800 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... |
OMIM:301110 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Agitation, Anemia, Decreased body weight, Leukocytosis, Thrombocytopenia, Hyperphos... |
ORPHA:340 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Enamel hypoplasia, Obesity, Hypocalc... |
ORPHA:79444 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Limb ataxia, Difficulty walking, Failure to thrive in infancy, Increased circulatin... |
OMIM:617595 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:264350 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Calcinosis, Anemia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Splenomegaly,... |
OMIM:239200 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ... |
ORPHA:157215 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Anemia, Inability to walk, Leukopenia, Splenomegaly, Flexion contracture, Thrombocytopenia, Hypoa... |
OMIM:617303 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... |
ORPHA:232 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... |
ORPHA:848 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany |
ORPHA:93325 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:466650 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia, Flexion contracture, Hepatosplenomegaly |
ORPHA:367 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Anemia, Leukocytosis, Weight loss |
ORPHA:67 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbum... |
OMIM:617093 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration |
ORPHA:90060 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Amelogenesis imperfecta, Hypocalcemic seizures, Increased circulating beta-C-terminal... |
OMIM:248250 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria, Episodic ataxia |
OMIM:234500 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Enamel hypoplasia, Obesity, Hypocalc... |
ORPHA:79443 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E... |
ORPHA:36234 |
| Corticosteroid-Binding Globulin Deficiency |
|
Reduced circulating cortisol-binding globulin concentration, Anemia, Hypokalemia |
OMIM:611489 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... |
OMIM:235400 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Lipodystrophy |
ORPHA:329918 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... |
OMIM:271980 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly,... |
OMIM:251880 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
OMIM:614736 |
| Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
ORPHA:428 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... |
ORPHA:37042 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
| Al Amyloidosis |
|
Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Dysphagia, Weight los... |
ORPHA:85443 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... |
OMIM:274150 |
| Phenylketonuria |
|
Hyperactivity, Elevated urinary gamma-glutamylphenylalanine level, Hyperphenylalaninemia, Compuls... |
OMIM:261600 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Self-mutilation, Hem... |
OMIM:619487 |
| Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Gait disturbance, Hypophosphatemia, Abnormal adipose tissue morphology |
ORPHA:93160 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Small for gestational age |
OMIM:101800 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Failure to thrive, Ataxia, Flexion contracture, Hy... |
OMIM:212065 |
| East Syndrome |
|
Polydipsia, Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level... |
ORPHA:199343 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Chondrocalcinosis |
ORPHA:99879 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Anorexia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Fail... |
ORPHA:95409 |
| Xfe Progeroid Syndrome |
|
Cachexia, Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Hy... |
OMIM:610965 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Hypomagnese... |
OMIM:619743 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Failure to thrive, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Small for gestational age, Reduced C-peptide level |
OMIM:618858 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Small for gestational age |
ORPHA:275555 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Failure to th... |
OMIM:264700 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Waddling gait, Hepatosplenomegaly, Abnormal circulating calcium concent... |
OMIM:307800 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Difficulty walking, Generalized aminoaciduria, Hypocalcemia, Leukocytosis,... |
ORPHA:289157 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Decreased body weight, Hyponatremia, Hypoplastic spleen, Leukopenia, Thromb... |
OMIM:617053 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... |
OMIM:619055 |
| Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia |
OMIM:218030 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Anemia, Failure to thrive, Hyponatremia, Small for gestational age |
ORPHA:97362 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... |
OMIM:613095 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Difficulty walking, Failure to thrive, Abnormal circulating calcium con... |
OMIM:241530 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia |
OMIM:618314 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy... |
OMIM:227810 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Large for gestational age, Aminoaciduria, Hypophosphatemia |
OMIM:616026 |
| Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Anemia, Atrophic scars, Enamel hypoplasia, Failure to thrive, Hypoalbuminemia |
ORPHA:79396 |
| Alg12-Cdg |
|
Abnormal adipose tissue morphology, B lymphocytopenia, Camptodactyly, Failure to thrive, Hyponatr... |
ORPHA:79324 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypermethioninemia, Hypergalactosemia, Failure to thrive, Increa... |
OMIM:222470 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Hypoalbum... |
OMIM:617156 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Inability to walk, Leukopenia, Flexion contracture, Hepatosplenomegaly, Thrombocytopenia,... |
ORPHA:505248 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Addison Disease |
|
Hyperkalemia, Anorexia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Fail... |
ORPHA:85138 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Small for gestational age, Reduced C-peptide level |
OMIM:606176 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Wilson Disease |
|
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Hemo... |
OMIM:277900 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Juvenile Polyposis Of Infancy |
|
Anemia, Cachexia, Subcutaneous lipoma, Hypoalbuminemia, Refractory anemia |
ORPHA:79076 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal lymphocyt... |
ORPHA:99826 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... |
ORPHA:90038 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Generalized lipodystrophy, Hyperactivity, Gait ataxia, Reduced subcutaneous... |
ORPHA:363400 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Difficulty walking, Enamel hypoplasia, Failure to thrive, Hypophosphatemia |
OMIM:277440 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Failure to thrive, Hyperalaninemia |
OMIM:618329 |
| Multiple Myeloma |
|
Anemia, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Elevated circulating creatini... |
ORPHA:29073 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion contracture |
OMIM:156400 |
| Myopathy With Extrapyramidal Signs |
|
Hypervalinemia, Difficulty walking, Hyperactivity, Elevated circulating creatine kinase concentra... |
OMIM:615673 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Camptodactyly, Umbilical hernia, Hypoalbuminemia, Joint contracture of the hand |
OMIM:235510 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Multiple lipomas, Chondrocalcinosis |
OMIM:600740 |
| Optic Atrophy 11 |
|
Hyperactivity, Athetosis, Gait apraxia, Attention deficit hyperactivity disorder, Stereotypical b... |
OMIM:617302 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Hyperactivity, Decreased p... |
ORPHA:760 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Hypokalemia |
OMIM:604278 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Hypophospha... |
ORPHA:411634 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Decreased b... |
ORPHA:2298 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Failure to thrive, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Galloway-Mowat Syndrome 1 |
|
Camptodactyly, Ataxia, Hypoalbuminemia, Small for gestational age, Hiatus hernia, Joint contractu... |
OMIM:251300 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia, Gait disturbance |
ORPHA:352540 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... |
ORPHA:79102 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Inguinal hernia |
OMIM:614376 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Anorexia, Failure to thrive, Hyponatremia, Weight loss |
ORPHA:361 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Anemia, Decreased circulating apolipoprotein A-I concent... |
ORPHA:85450 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Inguinal hernia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failure to ... |
OMIM:613658 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... |
ORPHA:90041 |
| Argininemia |
|
Anorexia, Spastic gait, Reduced erythrocyte arginase activity, Hyperactivity, Hyperargininemia, H... |
OMIM:207800 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Generalized aminoaciduria |
OMIM:613388 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Broad-based gait, Truncal ataxia, Recurrent hand flapping, Persistence of hemoglobin... |
OMIM:617101 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir... |
OMIM:608836 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Anemia, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Decre... |
OMIM:619381 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90791 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Failure to thrive, Hypophosphatemia, Abnormal blood ion concentration, A... |
ORPHA:411629 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Anemia, Cachexia, Vacuolated lymphocytes, Bone-marrow foam ce... |
ORPHA:275761 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... |
ORPHA:231222 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia |
ORPHA:230 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia |
OMIM:602722 |
| Hypomagnesemia 2, Renal |
|
Chondrocalcinosis, Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive, Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Failure to thrive, Hypophosphatemia, Generalized aminoaciduria |
ORPHA:2088 |
| Dihydropyrimidinase Deficiency |
|
Hyperactivity, Elevated circulating creatine kinase concentration, Elevated circulating thymine c... |
OMIM:222748 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Cachexia, Athetosis, Ataxia, Abnormal circulating creatine concentration, Self-mut... |
ORPHA:52503 |
| Pearson Syndrome |
|
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... |
ORPHA:699 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
| Hereditary Methemoglobinemia |
|
Athetosis, Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbumi... |
ORPHA:186 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia |
ORPHA:247691 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia |
OMIM:214700 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Broad-based gait, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscula... |
OMIM:616943 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomagnesemia, A... |
OMIM:612780 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
| Cystinosis, Nephropathic |
|
Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circula... |
OMIM:219800 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
| Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration, Congenital diaphragmatic hernia, Small... |
ORPHA:2260 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Addictive alcohol use, Ataxia |
ORPHA:31826 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Failure to thrive, Hyponatremia |
ORPHA:90790 |
| Gitelman Syndrome |
|
Polydipsia, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypomagnesemia, At... |
OMIM:263800 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... |
ORPHA:231214 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypocalcemic seizures, Lipoma, Hypercalcemia, Renal hypophosphatemia, Chondrocal... |
ORPHA:405 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Parathyroid Carcinoma |
|
Polydipsia, Lipoma, Hypercalcemia, Dysphagia, Hypophosphatemia, Weight loss, Chondrocalcinosis |
ORPHA:143 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt... |
OMIM:612716 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
| Erythrocytosis, Familial, 2 |
|
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... |
OMIM:263400 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hypokalemia, Inguinal hernia, Abnormal dental enamel morphology, Compulsive behaviors, At... |
ORPHA:534 |
| Dent Disease 1 |
|
Aminoaciduria, Hypophosphatemia |
OMIM:300009 |
| Lead Poisoning |
|
Anorexia, Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased ... |
ORPHA:330015 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Lipoma, Hypercalcemia, Hypophosphatemia, Dysphagia, Chondrocalcinosis |
ORPHA:99880 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Athetosis, Hypokalemia |
OMIM:615474 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... |
ORPHA:168558 |
| Osteootohepatoenteric Syndrome |
|
Anemia, Increased serum bile acid concentration, Hypokalemia, Failure to thrive, Weight loss |
OMIM:619377 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia, Splenomegaly, ... |
OMIM:617913 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... |
ORPHA:289548 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Elevated circulating 7-dehydrocholesterol concentration, Failure to thrive, Spleno... |
OMIM:270400 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Weight loss |
ORPHA:171 |
| Kawasaki Disease |
|
Hypoalbuminemia, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:2331 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Difficulty walking, Inability to walk, Hyperactivity, Gait disturbance, Hamstring contractures, A... |
ORPHA:139396 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Fibrous Dysplasia Of Bone |
|
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait |
ORPHA:249 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia |
ORPHA:544482 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia, Flexion contracture |
ORPHA:98791 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Athetosis, Hypokalemia |
ORPHA:369929 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia |
ORPHA:251274 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Failure to thrive, Hy... |
OMIM:229600 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Hyperacti... |
OMIM:617052 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia, Pancytopenia |
ORPHA:562 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Normocytic anemia, Reduced hematocrit, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
| Hyperthyroidism, Nonautoimmune |
|
Increased circulating thyroglobulin concentration, Hyperactivity, Small for gestational age |
OMIM:609152 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Mercury Poisoning |
|
Anorexia, Hypokalemia |
ORPHA:330021 |
| Raine Syndrome |
|
Enamel hypoplasia, Arthrogryposis multiplex congenita, Hypophosphatemia |
OMIM:259775 |
| Dent Disease |
|
Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Splenomegaly, Anemia, Hypophosphatemia |
ORPHA:667 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia |
OMIM:613090 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Obesity, Abnormal fear-induced behavior, Hypokalemia |
OMIM:219090 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia |
OMIM:619769 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
| X-Linked Hypophosphatemia |
|
Cellulitis, Odontodysplasia, Enthesitis, Hypophosphatemia |
ORPHA:89936 |
| Helix Syndrome |
|
Polydipsia, Hypermagnesemia, Hypokalemia |
OMIM:617671 |
| Yellow Fever |
|
Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili... |
ORPHA:99829 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
| Vipoma |
|
Anorexia, Hypokalemia, Normochromic anemia, Hypercalcemia, Weight loss, Subcutaneous lipoma |
ORPHA:97282 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinem... |
OMIM:619534 |
| Cholera |
|
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failure to thrive... |
OMIM:601678 |
| Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hyperchloriduria, Hypokalemia |
OMIM:607364 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets, Enthesitis |
ORPHA:289176 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concen... |
OMIM:619573 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, W... |
ORPHA:449395 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Falls, Hyperactivity, Hea... |
ORPHA:2388 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Cachexia, Hypoalbuminemia, Splenomegaly |
ORPHA:75565 |
| Bartter Syndrome Type 4 |
|
Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Failure ... |
ORPHA:89938 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failu... |
OMIM:241200 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Hypokalemia, Failure to thrive, Aminoaciduria, Hemolytic anemia |
ORPHA:18 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Increased body weight, Weight loss |
ORPHA:1501 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure to thrive, Thr... |
OMIM:260400 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia |
OMIM:602522 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hypochloremia, Failure to thrive, Hyponatremia, Weight loss |
ORPHA:90794 |
| Rabson-Mendenhall Syndrome |
|
Polydipsia, Reduced subcutaneous adipose tissue, Increased C-peptide level, Hypokalemia |
ORPHA:769 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia, Ataxia, Hypokalemia |
OMIM:618426 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Anemia, Flexion contracture, Abnormal hemoglobin |
ORPHA:847 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Motor stereoty... |
OMIM:301040 |
| Gitelman Syndrome |
|
Polydipsia, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Failure to thrive... |
ORPHA:358 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Failure to thrive, Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Decreased circulating renin level, Camptodactyly, Hyponatremia, Small for gestation... |
OMIM:201750 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
| Pmm2-Cdg |
|
Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-binding globulin, Failure to thri... |
ORPHA:79318 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Hypokalemia, Ataxia, Restlessness, Increased circu... |
ORPHA:466677 |
| Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Polydipsia, Hypokalemia, Failure to thrive, Enamel hypomineralization, Aminoaciduria |
ORPHA:47159 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Hypokalemia |
OMIM:170390 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Leprechaunism |
|
Hypokalemia, Decreased body weight, Increased circulating renin level, Failure to thrive, Reduced... |
ORPHA:508 |
| Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
| Alkaptonuria |
|
Aminoaciduria, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hypokalemia, Cigarette-paper scars, Uterine prolapse, Umbilical hernia, Cystocele |
ORPHA:286 |
