| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia |
ORPHA:2134 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... |
OMIM:248190 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
ORPHA:405 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, En... |
OMIM:615285 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... |
ORPHA:859 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria |
OMIM:618314 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... |
OMIM:598500 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67048 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia |
OMIM:613606 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| East Syndrome |
|
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium wasting, Renal ... |
ORPHA:199343 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612924 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... |
OMIM:248250 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... |
OMIM:612925 |
| Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... |
OMIM:612926 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... |
ORPHA:54057 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... |
OMIM:613845 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Thrombocytopenia |
ORPHA:3327 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... |
ORPHA:182050 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Pancytopenia, Leukopenia, Thrombocytopenia, Elevated urinary isovalerylglycine l... |
OMIM:243500 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria |
ORPHA:2197 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Hypospadias |
OMIM:201710 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... |
OMIM:603585 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Maturity-onset diabetes of the young, Hyperglycemia, Transient... |
ORPHA:99886 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... |
ORPHA:73224 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia... |
OMIM:301110 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, ... |
OMIM:249270 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Renal insufficiency, Thrombocytopenia, Renal hypoplasia/aplasia |
ORPHA:2123 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Renal tubular dysfunction, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Preeclampsia |
|
Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Renal insufficiency, Prote... |
ORPHA:275555 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
| Babesiosis |
|
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:108 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia |
OMIM:610539 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Polyuria, Nocturia, Renal potassium wasting |
OMIM:263800 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Anemia |
ORPHA:27 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Hypoglycemia |
OMIM:201910 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-ne... |
OMIM:603909 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ... |
OMIM:304790 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Hemolytic-uremic syndrome |
OMIM:614727 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:613101 |
| Amed Syndrome, Digenic |
|
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Leukopenia, Leukocytosis, Hematuria, Thro... |
ORPHA:91547 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria |
OMIM:618857 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the kidney |
ORPHA:101028 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia |
ORPHA:49827 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disease, Neutropenia, Th... |
OMIM:251000 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... |
OMIM:301078 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias |
OMIM:612528 |
| Mody |
|
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin ... |
ORPHA:552 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Pancytopenia, Neutropen... |
OMIM:606054 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia |
OMIM:620365 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... |
OMIM:274150 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia |
ORPHA:507 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Rhabdoid Tumor |
|
Anemia, Hematuria, Renal neoplasm, Thrombocytopenia |
ORPHA:69077 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:610333 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Immune Thrombocytopenia |
|
Hematuria, Thrombocytopenia |
ORPHA:3002 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Thrombocytopenia, Monocy... |
OMIM:619644 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Nephritis, Glycosuria, Insulin-resistant diabetes... |
ORPHA:2298 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:251110 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils, Recurrent c... |
ORPHA:229717 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Proteinuria, Thrombocytopenia, Anemia |
ORPHA:90060 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... |
OMIM:262190 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... |
ORPHA:3337 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Leukocytosis, Proteinuria, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... |
OMIM:616026 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:616050 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... |
ORPHA:2088 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Hypoglycemia, Dicarboxylic aciduria |
OMIM:611126 |
| Wolfram Syndrome 1 |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... |
OMIM:222300 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Atelis Syndrome 1 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Sengers Syndrome |
|
3-Methylglutaconic aciduria, Thrombocytopenia |
OMIM:212350 |
| Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia |
OMIM:620603 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... |
ORPHA:93552 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Stt3B-Cdg |
|
Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid level, Elevat... |
OMIM:251100 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... |
OMIM:601399 |
| Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Thrombocytopenia |
OMIM:615597 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Decreased glomerular... |
ORPHA:85450 |
| Congenital Rubella Syndrome |
|
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia |
ORPHA:290 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Good Syndrome |
|
Recurrent urinary tract infections, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Diab... |
ORPHA:169105 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... |
ORPHA:100026 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Refracto... |
OMIM:557000 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
| Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Thrombocytopenia |
ORPHA:83313 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... |
ORPHA:90045 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis |
OMIM:239199 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Leukocytosis, Thrombocytopenia, Anemia |
ORPHA:3392 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Decreased urinary potassium |
OMIM:611489 |
| Mirage Syndrome |
|
Hypospadias, Hypoglycemia, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukope... |
OMIM:617053 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype... |
ORPHA:447 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop... |
ORPHA:1830 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... |
OMIM:254900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ... |
OMIM:235400 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ... |
OMIM:242900 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio |
OMIM:618048 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Hematuria, Thrombocytopenia |
ORPHA:231111 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Thrombocytopenia, Anemia |
ORPHA:457077 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Hypoglycemia |
OMIM:614736 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Lig4 Syndrome |
|
Pancytopenia, Type II diabetes mellitus, Thrombocytopenia, Micropenis, Acute lymphoblastic leukemia |
OMIM:606593 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Holocarboxylase Synthetase Deficiency |
|
3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, T... |
OMIM:253270 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Urethral stricture, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt... |
OMIM:600901 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Prolidase Deficiency |
|
Anemia, Splenomegaly, Thrombocytopenia, Hyperimidodipeptiduria |
OMIM:170100 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... |
OMIM:227810 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp... |
OMIM:227650 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia |
ORPHA:85212 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Megaloblastic anemia, Thr... |
OMIM:277380 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... |
ORPHA:84081 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Leukopenia, Splenomegaly, Proteinuria, Thrombocyto... |
OMIM:617303 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased prop... |
OMIM:614700 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutropenia, Neonatal hypoglycemia |
OMIM:616271 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Urinary retention, Hepatosplenomegaly, Pancytopenia, Abno... |
ORPHA:79124 |
| Griscelli Syndrome |
|
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia |
ORPHA:381 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis |
OMIM:602722 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Congenital Enterovirus Infection |
|
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:292 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... |
OMIM:208085 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Hypoglycemia |
OMIM:617710 |
| Felty Syndrome |
|
Recurrent urinary tract infections, Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopeni... |
ORPHA:47612 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Urethral stricture, Neutropenia, Th... |
OMIM:613990 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Thrombocytopenia, Dicarboxylic aciduria |
ORPHA:99901 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Er... |
OMIM:612541 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Overlap Myositis |
|
Leukopenia, Diabetes mellitus, Thrombocytopenia, Abnormality of the kidney |
ORPHA:206572 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Pancytopenia, Splenomega... |
OMIM:614576 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... |
ORPHA:411634 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
| Renal Tubular Acidosis, Proximal |
|
Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:263501 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Hypoglycemia |
OMIM:616638 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... |
OMIM:619743 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... |
OMIM:277400 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:64743 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting |
OMIM:612780 |
| Hellp Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, Thrombocyt... |
ORPHA:244242 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:47 |
| Snakebite Envenomation |
|
Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
| Avian Influenza |
|
Acute kidney injury, Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:454836 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Iron deficiency anemia, Hyperphosphaturia |
ORPHA:89937 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Hydronephrosis, Micropenis, Thrombocytopenia, Duplicated colle... |
OMIM:301056 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... |
OMIM:278000 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Thrombocytopenia |
OMIM:619980 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, He... |
ORPHA:77259 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Abnormal renal physiology |
ORPHA:540 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ... |
OMIM:610377 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyposthenuria, Hypernatriuria |
OMIM:300539 |
| Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Leukopenia, Vesicoureteral reflux, Thrombocytopenia, Anemia, Pelv... |
OMIM:603467 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt... |
OMIM:227645 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi... |
ORPHA:274 |
| Shigellosis |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hypoglycemia, Urethritis, Leukocytosis, A... |
ORPHA:810 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn... |
OMIM:222700 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia,... |
OMIM:260400 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:606003 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:294 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia, Aminoaciduria |
OMIM:614946 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Ketotic hypoglycemia, Hypoglycemic seizures, ... |
ORPHA:361 |
| Neuroblastoma |
|
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate... |
ORPHA:635 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Thrombocytopenia |
OMIM:608104 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hypercalciuria, Polyuria, Anemia |
OMIM:239200 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... |
OMIM:603553 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Renal insufficiency, Hydronephrosis, Thrombocytopenia, Anemia, Hypospadias, Hemo... |
OMIM:611209 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Sc... |
ORPHA:90038 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Splenomegaly, Thrombocytopenia |
OMIM:251290 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
| Castleman Disease |
|
Ureteral obstruction, Renal insufficiency, Hematuria, Thrombocytopenia, Anemia, Decreased mean co... |
ORPHA:160 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:267700 |
| Immunodeficiency 22 |
|
Anemia, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia |
OMIM:615758 |
| Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Elevated urine pyrophosphate, Hypercalciuria, Anemia |
OMIM:241500 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypercalciuria, Hypospadias |
OMIM:614732 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:391487 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... |
ORPHA:124 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Thrombocytopenia, Splenomegaly, Hypoglycemia |
OMIM:251880 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis |
OMIM:601198 |
| Sepsis In Premature Infants |
|
Oliguria, Leukocytosis, Splenomegaly, Reversible renal failure, Thrombocytopenia, Neutropenia, An... |
ORPHA:90051 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Thrombocytopenia, Microscop... |
ORPHA:319213 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Leuk... |
ORPHA:505248 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chro... |
ORPHA:906 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:259700 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Renal duplication, ... |
OMIM:227646 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Medullary nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
ORPHA:157215 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Hypercalciuria, Renal tubular dysfunction |
OMIM:241530 |
| Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia |
OMIM:617591 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Leukopenia, Vesicouretera... |
OMIM:620654 |
| Fanconi Anemia, Complementation Group B |
|
Micropenis, Aplastic anemia, Renal agenesis, Thrombocytopenia |
OMIM:300514 |
| Wilson Disease |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:905 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... |
OMIM:601678 |
| Lysinuric Protein Intolerance |
|
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Hemophagocytosis, Oroticaciduria, Leukopenia, ... |
ORPHA:470 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:169090 |
| Familial Hypoaldosteronism |
|
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis |
ORPHA:427 |
| Congenital Erythropoietic Porphyria |
|
Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increased urinary porphobilinog... |
ORPHA:79277 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... |
OMIM:241200 |
| Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency |
ORPHA:320 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalciuria, Nephrolithi... |
OMIM:145981 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Ureteral duplication, Thrombocytopenia |
OMIM:610733 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho... |
OMIM:301000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ketonuria, Methylmalonic aciduria, Hypoglycemia, Renal insufficiency, Glomerulopathy, Megaloblast... |
ORPHA:79282 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hyperphosphaturia |
OMIM:613312 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Congenital Syphilis |
|
Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia, Nephrot... |
ORPHA:499009 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abnormalit... |
ORPHA:464343 |
| Gitelman Syndrome |
|
Insulin resistance, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Enuresis, Gluco... |
ORPHA:358 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Splenomegaly, Hyperphosphaturia, Renal tubular dysfunction, Nephrolith... |
OMIM:277900 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... |
ORPHA:89938 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypoglycemia, Renal insufficiency, Decreased urinary potassium, Renal salt was... |
ORPHA:95409 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... |
OMIM:259720 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Abscess, Increased circulating myelocyte... |
ORPHA:36234 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, Anemia |
ORPHA:77261 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Decreased urine output, Throm... |
ORPHA:544482 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:308230 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... |
OMIM:616737 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... |
ORPHA:464329 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hypernatriuria, Abnormal urine potassium concentration, Hepatosplenomegaly, H... |
ORPHA:275761 |
| Pearson Syndrome |
|
Glycosuria, Pancytopenia, Renal insufficiency, Reticulocytosis, Splenomegaly, Proteinuria, Renal ... |
ORPHA:699 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Leukocytosis, Proteinuria, Myoglobinuria, Thrombocytopenia, Thrombocytosis, ... |
ORPHA:94093 |
| Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Red urine, Pink urine, Thrombocytopenia, Reduced erythrocyte uroporphyrinogen III c... |
OMIM:263700 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Axial malrotation of the kidney, Thrombocytopenia, Abnormality of the kidney |
ORPHA:3320 |
| Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Renal insufficiency, Thrombocytopenia, Neutropenia, Anemia, Dysuria |
ORPHA:537 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
| Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Thrombocytopenia, Anemia, Abnormality of neutrop... |
ORPHA:36426 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pyuria |
ORPHA:536 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:300971 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Renal salt wasting, Neonatal hypoglycemia, Hypospadias, Penoscrotal hypospadias |
ORPHA:90791 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycemia, Thrombocytopenia, Hypoglycemia |
OMIM:620423 |
| Down Syndrome |
|
Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Renal hypoplasia/aplasia,... |
ORPHA:870 |
| Lathosterolosis |
|
Horseshoe kidney, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Hypoplasia... |
ORPHA:46059 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
| Caroli Syndrome |
|
Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia, Abnormality of the kidney, Polycystic ... |
ORPHA:480520 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Proximal renal tubular acidosis, Pancytopenia, Leukopenia, Distal renal tubular acidosis, Renal t... |
ORPHA:2785 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Oculoskeletodental Syndrome |
|
Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly |
OMIM:618440 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Alg12-Cdg |
|
Recurrent hypoglycemia, Thrombocytopenia, B lymphocytopenia, Micropenis, Hypospadias |
ORPHA:79324 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Hepatosplenomegaly, Renal tubular dysfunction |
OMIM:307800 |
| Q Fever |
|
Granuloma, Hepatosplenomegaly, Splenomegaly, Hematuria, Thrombocytopenia, Anemia |
ORPHA:781 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... |
OMIM:219800 |
| Addison Disease |
|
Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Thiamine-responsive megaloblastic anem... |
ORPHA:85138 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperphosphaturia, Hyper... |
OMIM:229600 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... |
OMIM:105650 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Hypernatriuria, Abnormal urine potassium concentration, Urogenital sinus an... |
ORPHA:168558 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia |
OMIM:608013 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria |
OMIM:615398 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Dyskeratosis Congenita |
|
Splenomegaly, Displacement of the urethral meatus, Thrombocytopenia, Anemia, Abnormality of neutr... |
ORPHA:1775 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Hypernatriuria, Abnormal urine potassium concentration, Urogenital sinus an... |
ORPHA:289548 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hydronephrosis, Thrombocytopenia... |
OMIM:251260 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
| Atelis Syndrome 2 |
|
Anemia, Hyperinsulinemia, Thrombocytopenia |
OMIM:620185 |
| Cornelia De Lange Syndrome 1 |
|
Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflux, Proteinu... |
OMIM:122470 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia |
OMIM:300972 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Pancytopenia, Hyperphosphaturia, Renal tubular dysfunction |
ORPHA:562 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
| Helix Syndrome |
|
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis |
OMIM:617671 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:333 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Brucellosis |
|
Granuloma, Intrarenal abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung absces... |
ORPHA:1304 |
| Gaucher Disease, Type Ii |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Rift Valley Fever |
|
Anemia, Hematuria, Thrombocytopenia |
ORPHA:319251 |
| Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:261323 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... |
ORPHA:534 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Renal hypoplasia, Lymphopenia, Thrombocytopenia, Anemia |
OMIM:620005 |
| Dyskeratosis Congenita, X-Linked |
|
Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Acute myeloid leukemia, Thrombocytopenia, A... |
OMIM:305000 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia |
OMIM:156400 |
| Dubowitz Syndrome |
|
Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemi... |
ORPHA:235 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoglycemia, Lymphopenia, Abnormal lymphocyte morphology,... |
ORPHA:99826 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level |
ORPHA:90795 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:79330 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micropenis, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicouretera... |
OMIM:274000 |
| Deeah Syndrome |
|
Micropenis, Neonatal hypoglycemia, Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619004 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Hypersplen... |
ORPHA:731 |
| Fanconi Anemia |
|
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Leukopenia, R... |
ORPHA:84 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Type I diabetes mellitus, Microcytic anemia, Splenomegaly, Thrombocytopenia... |
OMIM:619525 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Nephrotic syndrome, Hemolytic anemia |
OMIM:615846 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria |
OMIM:239000 |
| Fibular Hemimelia |
|
Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic anemia, Pollakisuria |
ORPHA:647 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal renal cortex morphology, Thrombocytopenia, Abnormality of the kidney |
ORPHA:464321 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydronephrosis, Micropenis, Thrombocytopenia, Anemia, Hypospadias |
ORPHA:163979 |
| Gaucher Disease |
|
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Hematuria, Proteinuria, Splenic ruptu... |
ORPHA:355 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Thrombocytopenia |
OMIM:612199 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet... |
ORPHA:487796 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Hepatosplenomegaly, H... |
OMIM:301068 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Hyperinsulinemia, R... |
ORPHA:508 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... |
OMIM:620376 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia |
OMIM:163200 |
| Tangier Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:31150 |
| Sarcoidosis |
|
Nephrocalcinosis, Leukopenia, Renal insufficiency, Nephrolithiasis, Increased T cell count, Eosin... |
ORPHA:797 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Hematuria, Proteinuria, Thrombocytopenia, N... |
ORPHA:99827 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormality of renal excretion, Tooth abscess, Hyperphosphaturia |
ORPHA:289176 |
| Jacobsen Syndrome |
|
Hypospadias, Thrombocytopenia |
OMIM:147791 |
| Ogden Syndrome |
|
Polycythemia, Global glomerulosclerosis, Iron deficiency anemia, Maternal diabetes, Thrombocytope... |
OMIM:300855 |
| Yellow Fever |
|
Acute kidney injury, Anuria, Leukocytosis, Renal insufficiency, Thrombocytopenia, Neutrophilia |
ORPHA:99829 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
| Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Leukopenia, Splenomega... |
OMIM:619991 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Polycythemia, Hypoglycemia, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nep... |
ORPHA:116 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Elliptocytosis, Anemia, Renal dysplasia |
OMIM:300990 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... |
ORPHA:369837 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Abnormality of thrombocytes, Vesicoureteral reflux, Splenomegaly, Hypoplasia of... |
ORPHA:567 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hypernatriuria, Urogenital sinus anomaly, Elevated urinary epinephrine level, Renal s... |
ORPHA:90794 |
| Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Thrombocytopenia |
ORPHA:2308 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia, Thrombocytopenia |
ORPHA:3103 |
| Acute Liver Failure |
|
Acute kidney injury, Thrombocytopenia, Hypoglycemia |
ORPHA:90062 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Micropenis,... |
ORPHA:51 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:2072 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E... |
ORPHA:653 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Tooth abscess, Hypocalciuria |
ORPHA:89936 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Thrombocytopenia |
ORPHA:466650 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Thrombocytopenia, Nephrolithiasis |
ORPHA:666 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Thrombocytopenia, Splenomegaly, Impaired glucose tolerance |
OMIM:256040 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:309000 |
| Leptospirosis |
|
Acute kidney injury, Cellular urinary casts, Thrombocytopenia |
ORPHA:509 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Thrombocytopenia |
ORPHA:79078 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy... |
ORPHA:77293 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Renal insufficiency, Splenomegaly, Hydronephrosis, Hypoplasia of the t... |
OMIM:188400 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Hypercalciuria, Splenomegaly |
OMIM:181000 |
| Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Type II diabetes mellitus... |
ORPHA:904 |
| Cystic Fibrosis |
|
Hepatosplenomegaly, Hypercalciuria |
OMIM:219700 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Glucose intoler... |
OMIM:194050 |
| Noonan Syndrome 1 |
|
Hypospadias, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Hypocalciuria |
ORPHA:73223 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Nephrocalcinosis, Medullary nephrocalcinosis, Cortical nephrocalcinosis |
ORPHA:51608 |
