| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Polyuria |
OMIM:222100 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| 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, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... |
ORPHA:158048 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Glutathione Synthetase Deficiency |
|
Intention tremor, Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Impaired vibration sensation in the lower limbs, Acute myelomonocytic leuke... |
OMIM:159550 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Diabetes insipidus |
ORPHA:95626 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis, Dystonia |
OMIM:610181 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephr... |
OMIM:143880 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Dystonia 30 |
|
Impulsivity, Compulsive behaviors, Hypothalamic hamartoma, Aggressive behavior |
OMIM:619291 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia |
OMIM:610738 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... |
OMIM:241600 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
| Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Hypoplasia of the ovary, Decr... |
OMIM:618841 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria, Diabetes insipidus |
OMIM:304800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Polydipsia, Megacystis, Polyuria |
OMIM:125800 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Thrombocytopenia, Chorea, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia |
ORPHA:289916 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Par... |
ORPHA:29073 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Nocturia, Anorexia |
ORPHA:178029 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Hypocalciuria, Renal so... |
OMIM:612780 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... |
ORPHA:398079 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Elevated circulating parathyroid horm... |
OMIM:239200 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| East Syndrome |
|
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hyperaldosteronism, Abnormal... |
ORPHA:199343 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
| Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia |
OMIM:617671 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Abnormality of circul... |
ORPHA:320 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,... |
ORPHA:213 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia |
ORPHA:79312 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Central Precocious Puberty In Male |
|
Aggressive behavior, Pituitary microadenoma, Hypothalamic hamartoma, Attention deficit hyperactiv... |
ORPHA:649929 |
| 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 |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, A... |
ORPHA:398069 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Impaired pain sensation |
ORPHA:2582 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... |
ORPHA:223 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:618929 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... |
OMIM:613845 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria |
OMIM:560000 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polydipsia, Polyphagia |
OMIM:615986 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Increased circulating r... |
OMIM:263800 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... |
ORPHA:84081 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation |
ORPHA:314621 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Ataxia, Somatic ... |
ORPHA:167 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Obsessive-compulsive trait, Hypothyroidism, Hypothalami... |
OMIM:619908 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
| Propionic Acidemia |
|
Pancytopenia, Dystonia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia |
OMIM:606054 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of... |
ORPHA:3157 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Familial Cold Urticaria |
|
Dehydration |
ORPHA:47045 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification, Motor tics |
OMIM:615483 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... |
ORPHA:292 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso... |
ORPHA:369929 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification, Dysphagia |
OMIM:618317 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Craniofacial dystonia, Hyperammonemia, Neutropenia |
OMIM:618253 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Primary hyperparathyroidism, Nephrolithiasis, R... |
ORPHA:99880 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... |
OMIM:251110 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Polydipsia, Renal hamartoma, Primary hyperparathyroidism, Nephrolithiasis, R... |
ORPHA:143 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... |
OMIM:251100 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Disinhibition |
OMIM:618193 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... |
OMIM:214500 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration |
OMIM:214150 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... |
OMIM:615895 |
| Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Intrarenal abscess, Abnormality of the adrenal glands, Restless... |
ORPHA:68 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:363717 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Male hypogonadism, Abnormality of... |
ORPHA:3463 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Dysphagia |
ORPHA:2822 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... |
ORPHA:769 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, Neutropenia, Lympho... |
OMIM:615816 |
| Harlequin Ichthyosis |
|
Dehydration |
ORPHA:457 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia... |
OMIM:277380 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Opisthotonus, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Renal d... |
OMIM:618183 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
| Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:467166 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2315 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
| Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
| Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Ataxia, Hyperammonemia, Choreoathetosis, Neutropenia, Hyperalaninemia |
OMIM:615471 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
| Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
| Pallister-Hall-Like Syndrome |
|
Micropenis, Anterior hypopituitarism, Renal dysplasia, Hypothalamic hamartoma |
OMIM:241800 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:604173 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Hypospadias, Abnorma... |
ORPHA:209905 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia |
OMIM:617303 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... |
OMIM:277400 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Oligohydramnios |
OMIM:208085 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon, Renal hypoplasia/aplasia |
ORPHA:2570 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Dystonia, Neutropenia |
OMIM:617050 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:90051 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... |
OMIM:608233 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Polydipsia, Diabetes insipidus, Hydr... |
ORPHA:35687 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
| Whipple Disease |
|
Polydipsia, Hypothyroidism, Anorexia |
ORPHA:3452 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Dysphagia |
ORPHA:1947 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia |
ORPHA:537 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Renal agenesis, Hypo... |
ORPHA:478 |
| Beta-Ketothiolase Deficiency |
|
Edema, Dehydration |
ORPHA:134 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Abnormal thalamus morphology |
ORPHA:557003 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
| Leigh Syndrome |
|
Dystonia, Ataxia, Chorea, Choreoathetosis, Athetosis, Neutropenia, Hyperalaninemia, Anemia |
ORPHA:506 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum testosterone concentration, Hypospadias, Hypergonadotropic hypogonadism, Insulin-... |
ORPHA:2959 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Limb ataxia, Neutropenia |
ORPHA:51636 |
| 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 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
| Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D... |
OMIM:242840 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:404440 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Cach Syndrome |
|
T2 hypointense thalamus, Renal hypoplasia, Dysphagia |
ORPHA:135 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Hyperammonemia, Elevated... |
ORPHA:79282 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... |
ORPHA:731 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Dehydration |
ORPHA:20 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:50918 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Hyperuricemia, Neutropenia |
OMIM:232220 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria, Dysphagia |
ORPHA:220393 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Abnormal thalamus morphology, Attention deficit hyperactivity dis... |
ORPHA:435638 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Add... |
ORPHA:31826 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
| Osteootohepatoenteric Syndrome |
|
Dehydration |
OMIM:619377 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
| Cholera |
|
Dehydration |
ORPHA:173 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropeni... |
ORPHA:699 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
| Lassa Fever |
|
Oliguria, Dysphagia |
ORPHA:99824 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
| Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Gait ataxia, Neutropenia, Anemia, Intention ... |
ORPHA:33364 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... |
OMIM:211900 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Decreased... |
OMIM:146510 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
| Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormality of the kidney |
ORPHA:166119 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:485421 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Abnormal renal tubule morphology |
ORPHA:2720 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:157846 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:2909 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Neutropenia |
OMIM:617799 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Polyuria, Dysphagia |
OMIM:606721 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Shigellosis |
|
Dehydration |
ORPHA:810 |
| Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia |
ORPHA:254930 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration |
ORPHA:2131 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury |
OMIM:235400 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
| Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Abnormal renal morphology |
ORPHA:59315 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Dystonia, Neutropenia |
OMIM:617248 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms, Abnormal thalamus morphology |
ORPHA:300570 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
| Lysosomal Acid Lipase Deficiency |
|
Ascites, Dehydration |
ORPHA:275761 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Oliguria |
ORPHA:159 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Addictive alcohol use |
ORPHA:90065 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, Dysphagia |
OMIM:619775 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, A... |
ORPHA:79259 |
| Japanese Encephalitis |
|
Inappropriate antidiuretic hormone secretion, Focal T2 hyperintense thalamic lesion, Abnormal tha... |
ORPHA:79139 |
| 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 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Dehydration |
ORPHA:534 |
| Vipoma |
|
Ascites, Dehydration |
ORPHA:97282 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia |
ORPHA:319213 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Porphyria Cutanea Tarda |
|
Diabetes mellitus, Stage 5 chronic kidney disease, Porphyrinuria, Increased urinary porphobilinog... |
ORPHA:101330 |
| Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
| Microsporidiosis |
|
Dehydration |
ORPHA:2552 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Diabetes mellitus, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased ... |
ORPHA:544482 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume |
ORPHA:370959 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity, Aggressive behavior |
ORPHA:83597 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Edema, Dehydration |
ORPHA:79404 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:845 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
| Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
| Juvenile Polyposis Syndrome |
|
Brain abscess, Hypoproteinemia, Anemia |
ORPHA:2929 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Marburg Hemorrhagic Fever |
|
Dehydration |
ORPHA:99826 |
| Orofaciodigital Syndrome Type 6 |
|
Renal agenesis, Hypothalamic hamartoma, Renal hypoplasia/aplasia |
ORPHA:2754 |
| Multiple Endocrine Neoplasia Type 1 |
|
Dehydration |
ORPHA:652 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Hypothalamic hamartoma... |
OMIM:206900 |
| Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
| Orofaciodigital Syndrome Vi |
|
Renal agenesis, Renal dysplasia, Hypothalamic hamartoma |
OMIM:277170 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Abnormal renal cortex morphology, Abnormality of the kidney |
ORPHA:464321 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:90794 |
| Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Hypopituitarism, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Prec... |
ORPHA:672 |
| Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Compulsive behavio... |
ORPHA:904 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Hyper-Igd Syndrome |
|
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
| Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Orofaciodigital Syndrome I |
|
Hypothalamic hamartoma, Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
| Norrie Disease |
|
Diabetes mellitus, Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed pub... |
ORPHA:649 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
| Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
| Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria |
ORPHA:466650 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
