| Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Abnormal hypotha... |
OMIM:614963 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... |
ORPHA:158048 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Intention tremor, Neutropenia, Ataxia |
OMIM:266130 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Impaired vibration sensation in the lower li... |
OMIM:159550 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
| Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Pollakisuria |
ORPHA:95626 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Decrease... |
OMIM:143880 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
| Dystonia 30 |
|
Compulsive behaviors, Aggressive behavior, Hypothalamic hamartoma, Impulsivity |
OMIM:619291 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... |
OMIM:613677 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Ochoa Syndrome |
|
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... |
ORPHA:2704 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis |
OMIM:229050 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
| Panhypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95513 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Diabetes insipidus, Polydipsia, Polyuria, Megacystis |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Nephrogenic diabetes insipidus, Megacystis, Polyuria |
OMIM:125800 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Polyuria, Parathyroi... |
OMIM:617994 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis |
ORPHA:289916 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Paresthesia, Splenomegaly, Anemia, Hyperproteinemi... |
ORPHA:29073 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Central Diabetes Insipidus |
|
Anorexia, Diabetes insipidus, Polydipsia, Nocturia |
ORPHA:178029 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Hyperaldosteronism, Renal sodium wasting, Salt craving, Poly... |
OMIM:612780 |
| Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Urinary incontinence, Hypothalami... |
ORPHA:2495 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Polydipsia |
ORPHA:30925 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... |
ORPHA:398079 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... |
ORPHA:54595 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration... |
OMIM:602522 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Elevated circulating parathyroid hormone level, Polydipsia, Hyperphosphaturia, Hyp... |
OMIM:239200 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hyperaldosteroni... |
ORPHA:199343 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Helix Syndrome |
|
Hyperparathyroidism, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria |
OMIM:617671 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis |
ORPHA:79312 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Polydipsia, Renal insufficiency, Renal tubu... |
ORPHA:213 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... |
ORPHA:320 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... |
OMIM:613090 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Hypo... |
ORPHA:398069 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... |
OMIM:248250 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... |
ORPHA:91351 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... |
OMIM:308750 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Renal insuffic... |
ORPHA:223 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Self-injurious behavior, Interhypothalamic adhesion, Attention deficit hyperactivity disorder, Mi... |
OMIM:618929 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Impaired pain sensation |
ORPHA:2582 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Coasy Protein-Associated Neurodegeneration |
|
Compulsive behaviors, Abnormal thalamus morphology |
ORPHA:397725 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema |
ORPHA:103910 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting, Diabet... |
OMIM:613845 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria, Increased circulating renin level |
OMIM:300971 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... |
ORPHA:403 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria |
OMIM:560000 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency |
OMIM:615986 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Delayed puberty, Poly... |
OMIM:263800 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insen... |
ORPHA:251274 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:308700 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Self-mutilation, Abnormal pituitary gland morphology |
ORPHA:314621 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Hypothyroidism, Hypothalamic hamartoma, Obsessive-compu... |
OMIM:619908 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Ataxia |
OMIM:603585 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... |
ORPHA:231580 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Chédiak-Higashi Syndrome |
|
Ataxia, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morp... |
ORPHA:167 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia |
OMIM:615387 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Acute kidney injury, Polydipsia, Abnormality of endocrine pancreas ... |
ORPHA:93111 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Propionic Acidemia |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia |
OMIM:606054 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia of penis, Diabetes insip... |
ORPHA:3157 |
| Arima Syndrome |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... |
OMIM:243910 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Motor tics, Thalamic calcification |
OMIM:615483 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... |
ORPHA:411634 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... |
ORPHA:292 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th... |
OMIM:614857 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Hypothalamic gonad... |
ORPHA:2235 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Polydipsi... |
OMIM:241200 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... |
ORPHA:247585 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Polydipsia, Glycosuria, Low-molecula... |
OMIM:219800 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyperhomocystinemia, Ne... |
OMIM:275350 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia, Ataxia |
OMIM:620012 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Abnormal circulating renin |
ORPHA:369929 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dysphagia, Thalamic calcification |
OMIM:618317 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Hypomethioninemia |
OMIM:250940 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Pgm3-Cdg |
|
Ataxia, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia... |
ORPHA:443811 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... |
OMIM:607594 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Increased circulating free T3,... |
ORPHA:525731 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Semilobar Holoprosencephaly |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... |
ORPHA:93924 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Polydipsia, Ab... |
ORPHA:99880 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Craniofacial dystonia, Hyperammonemia, Neutropenia |
OMIM:618253 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Methylmalonic acidemia |
OMIM:251000 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... |
OMIM:251110 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition |
OMIM:618193 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Thrombocytopenia, Neutropenia, Anemia, Met... |
OMIM:251100 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Renal ha... |
ORPHA:143 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Lymphocytosis, Iron deficiency... |
ORPHA:1667 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
| Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Hyperaldo... |
OMIM:601678 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... |
OMIM:615895 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... |
ORPHA:411629 |
| Chediak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Abnormal d... |
OMIM:214500 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Tremor |
OMIM:608093 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Amoebiasis Due To Free-Living Amoebae |
|
Intrarenal abscess, Abnormality of the adrenal glands, Restlessness, Abnormal hypothalamus morpho... |
ORPHA:68 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Alexander Disease Type I |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Wolfram Syndrome |
|
Nephropathy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Recurrent urinary ... |
ORPHA:3463 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:540 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Leukopenia, Tremor, Opisthotonus, Thrombocytopenia, Neutropenia, Dystonia, Choreoathetosis |
OMIM:616271 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... |
ORPHA:2169 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Dysphagia |
ORPHA:2822 |
| Immunodeficiency 23 |
|
Somatic sensory dysfunction, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Ataxia, Hemolytic a... |
OMIM:615816 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous abscess formation |
ORPHA:47 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Nephrocalcinosis, Long penis, Polydipsia, Insulin-resistant diabetes mellitus... |
ORPHA:769 |
| Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia... |
OMIM:302060 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... |
OMIM:618183 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Tremor, Increased circulati... |
OMIM:613179 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Opisthotonus, Infection associated neutropenia, Choreoathetosis, Neutropenia |
ORPHA:445038 |
| Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology |
ORPHA:467166 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas... |
OMIM:277380 |
| Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2315 |
| Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
| Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Highly elevat... |
OMIM:251900 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... |
ORPHA:1830 |
| Pallister-Hall-Like Syndrome |
|
Micropenis, Hypothalamic hamartoma, Anterior hypopituitarism, Renal dysplasia |
OMIM:241800 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperammonemia, Hyperalaninemia, Neutropenia, Ataxia, Dystonia, Choreoathetosis |
OMIM:615471 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopen... |
OMIM:613990 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Splenomegaly, Hypocalcemia |
OMIM:235255 |
| Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... |
ORPHA:358 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Megacystis, Congenital hypothyroi... |
ORPHA:209905 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... |
ORPHA:811 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia, Elevated circulating creatine kinase concentration |
OMIM:604173 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia |
OMIM:242900 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, Hypocalcemia, Decreas... |
ORPHA:37042 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia |
ORPHA:1655 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Oligohydramnios, Dehydration |
OMIM:208085 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Dehydration, Neonatal death |
OMIM:263200 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon, Renal hypoplasia/aplasia |
ORPHA:2570 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... |
ORPHA:99845 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Elevated circulating palmitoleylcarnitine... |
ORPHA:79284 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... |
OMIM:614700 |
| Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
| Hermansky-Pudlak Syndrome 10 |
|
Dystonia, Splenomegaly, Neutropenia |
OMIM:617050 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Erdheim-Chester Disease |
|
Polydipsia, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Diabetes insipidu... |
ORPHA:35687 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver... |
ORPHA:54251 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopen... |
ORPHA:90051 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
| Whipple Disease |
|
Hypothyroidism, Polydipsia, Anorexia |
ORPHA:3452 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria |
ORPHA:537 |
| Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
| Beta-Ketothiolase Deficiency |
|
Dehydration, Edema |
ORPHA:134 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Kallmann Syndrome |
|
Renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogona... |
ORPHA:478 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Abnormal thalamus morphology |
ORPHA:557003 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:617099 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Abnormal thalamus morphology, Insulin-resistant diabetes mellitus, Dec... |
ORPHA:2959 |
| Leigh Syndrome |
|
Chorea, Hyperalaninemia, Neutropenia, Ataxia, Anemia, Dystonia, Athetosis, Choreoathetosis |
ORPHA:506 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Whim Syndrome |
|
Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia |
ORPHA:51636 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Dysphagia |
ORPHA:1947 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Tremor, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocy... |
OMIM:277400 |
| Mhc Class Ii Deficiency 1 |
|
Neutropenia |
OMIM:209920 |
| Revesz Syndrome |
|
Macrocytic anemia, Aplastic anemia, Neutropenia, Ataxia |
OMIM:268130 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:308230 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal thalamus morphology |
ORPHA:404440 |
| Vici Syndrome |
|
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Elevated circulatin... |
OMIM:242840 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... |
OMIM:557000 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia |
OMIM:607944 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Focal T2 hyperintense thalamic lesion, Dysphagia |
ORPHA:79264 |
| Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia |
ORPHA:228119 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... |
OMIM:615952 |
| Cach Syndrome |
|
T2 hypointense thalamus, Renal hypoplasia, Dysphagia |
ORPHA:135 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dehydration, Edema |
ORPHA:20 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Dehydration |
OMIM:246450 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... |
ORPHA:731 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227645 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemi... |
ORPHA:79282 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Splenomegaly, Hypoc... |
OMIM:619991 |
| Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria |
ORPHA:188 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Renal insufficiency, Dysphagia |
ORPHA:220393 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Leukopenia, Splenomegaly, Lymphocytosis, Elevated circulating C-reactive protein concentr... |
ORPHA:50918 |
| Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Abnormal thalamus morphology |
ORPHA:435638 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Hyperlipidemia, Splenomegaly, Neutropenia |
OMIM:232220 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
| Cholera |
|
Dehydration |
ORPHA:173 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
| Pearson Syndrome |
|
Ataxia, Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, H... |
ORPHA:699 |
| Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia |
OMIM:300755 |
| Zttk Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Polyuria |
OMIM:617140 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Gait ataxia, Neutropenia, Anemia, Intention ... |
ORPHA:33364 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... |
ORPHA:31826 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Abnormality of the diencephalon |
ORPHA:2720 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Dysphagia, Polyuria |
OMIM:606721 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
| Shigellosis |
|
Dehydration |
ORPHA:810 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... |
ORPHA:829 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227646 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia, Ataxia |
OMIM:617799 |
| Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency |
ORPHA:727 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Hyperparathyroidism, Nephrocalcinosis, Increased ren... |
OMIM:211900 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:436159 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... |
OMIM:146510 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:2909 |
| Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
| Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Hemolytic-uremic syndrome |
OMIM:235400 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Hypocalcemia, Neutropenia |
ORPHA:175 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Rhombencephalosynapsis |
|
Abnormal renal morphology, Fusion of the left and right thalami |
ORPHA:59315 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:221008 |
| Lysosomal Acid Lipase Deficiency |
|
Ascites, Dehydration |
ORPHA:275761 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Motor stereotypy, Abnormal thalamus morphology |
ORPHA:300570 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Dehydration |
ORPHA:96191 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Neutropenia |
OMIM:617248 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Dicarboxylic aciduria |
ORPHA:159 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Anemia, Calcinosis, Neutropenia, Leukemia |
ORPHA:221016 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
| Congenital Disorder Of Deglycosylation 2 |
|
Dysphagia, Hypothalamic hamartoma |
OMIM:619775 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Inappropriate antidiuretic hormone secretion, Abnormal tha... |
ORPHA:79139 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, Abnormal myelo... |
ORPHA:79259 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
| Vipoma |
|
Ascites, Dehydration |
ORPHA:97282 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Dehydration |
ORPHA:534 |
| Lujo Hemorrhagic Fever |
|
Microscopic hematuria, Oliguria, Renal insufficiency, Dysphagia |
ORPHA:319213 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... |
ORPHA:331235 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria, Diabe... |
ORPHA:544482 |
| Microsporidiosis |
|
Dehydration |
ORPHA:2552 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume |
ORPHA:370959 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dehydration, Edema |
ORPHA:79404 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ... |
OMIM:249100 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis |
OMIM:619351 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hypersple... |
ORPHA:228426 |
| Acute Disseminated Encephalomyelitis |
|
Aggressive behavior, Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Juvenile Polyposis Syndrome |
|
Anemia, Brain abscess, Hypoproteinemia |
ORPHA:2929 |
| Tay-Sachs Disease |
|
Precocious puberty, Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema |
ORPHA:2177 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
| Marburg Hemorrhagic Fever |
|
Dehydration |
ORPHA:99826 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:2754 |
| Multiple Endocrine Neoplasia Type 1 |
|
Dehydration |
ORPHA:652 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia |
ORPHA:289176 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Anterior pituitary hypoplasia, Micropenis,... |
OMIM:206900 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal renal cortex morphology, Abnormality of the kidney, Thalamic hemorrhage |
ORPHA:464321 |
| Orofaciodigital Syndrome Vi |
|
Renal agenesis, Hypothalamic hamartoma, Renal dysplasia |
OMIM:277170 |
| Williams Syndrome |
|
Type II diabetes mellitus, Overfriendliness, Abnormality of the diencephalon, Precocious puberty,... |
ORPHA:904 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Secondary growth hormone deficiency, Hypospadias, Unilateral renal agenesis, ... |
ORPHA:672 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:90794 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia, Hypothalamic hamartoma |
OMIM:311200 |
| Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
| Norrie Disease |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed puberty, Abnormality o... |
ORPHA:649 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami |
OMIM:610828 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria |
ORPHA:466650 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
