Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia |
ORPHA:147 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia |
OMIM:606762 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hyperammonemia |
OMIM:614111 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Argininemia |
|
Hyperammonemia |
ORPHA:90 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci... |
OMIM:604416 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, Ataxia, Pancyt... |
OMIM:159550 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... |
OMIM:209950 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia |
ORPHA:6 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, Elevated circul... |
OMIM:615160 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... |
OMIM:604250 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Saccharopinuria |
|
Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Elevated plasma citrull... |
ORPHA:3124 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Glutathione Synthetase Deficiency |
|
Ataxia, Hemolytic anemia, Neutropenia |
OMIM:266130 |
Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618416 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia |
ORPHA:664 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Propionic Acidemia |
|
Hyperammonemia |
ORPHA:35 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
N-Acetylglutamate Synthase Deficiency |
|
Increased level of L-glutamic acid in blood, Hyperammonemia |
OMIM:237310 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperammonemia |
OMIM:615453 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia |
OMIM:271500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia, Lethargy |
ORPHA:79312 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia |
ORPHA:35878 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia, Dystonia |
OMIM:619302 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... |
OMIM:277460 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... |
OMIM:614034 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hyperammonemia |
ORPHA:28 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... |
OMIM:616828 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Episodic ammonia intoxication, Hypoargininemia, Low plasma citrulline, Hyperammonemia |
OMIM:237300 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia, Difficulty wa... |
OMIM:251900 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia, Steatorrhea |
OMIM:618752 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... |
OMIM:150550 |
Developmental And Epileptic Encephalopathy 82 |
|
Hyperammonemia |
OMIM:618721 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Episodic ammonia intoxication, Hyperammonemia |
OMIM:311250 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia |
OMIM:618253 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Lethargy |
OMIM:614857 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hyper... |
ORPHA:2394 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Hypoglutaminemia, Hyperammonemia |
OMIM:610015 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251110 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Dysmetria, Gait ataxia, Hypertriglyceridemia |
OMIM:606721 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperglutaminemia, Hyperalaninemia, Acute hyperammonemia, Hyperammonemia |
ORPHA:927 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hyperammonemia |
OMIM:604273 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Neutropenia |
OMIM:617248 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... |
OMIM:615934 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia |
OMIM:603471 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hypoargininemia, Hyperammonemia |
ORPHA:23 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hyperammonemia |
OMIM:255120 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Gait a... |
ORPHA:572 |
Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia |
OMIM:618314 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251100 |
Barth Syndrome |
|
Gait disturbance, Granulocytopenia, Neutropenia |
OMIM:302060 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia, Broad-based gait |
OMIM:618067 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:603585 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly |
OMIM:604173 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Hyperammonemia |
ORPHA:247525 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Ataxia |
ORPHA:263501 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Bon... |
OMIM:278000 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia |
OMIM:615751 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,... |
OMIM:277380 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hyperuricemia, Hyperammonemia, Ataxia |
ORPHA:134 |
Propionic Acidemia |
|
Dystonia, Neutropenia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia, L... |
OMIM:606054 |
Infantile Liver Failure Syndrome 2 |
|
Hyperammonemia |
OMIM:616483 |
Carnitine Deficiency, Systemic Primary |
|
Decreased plasma carnitine, Hyperammonemia |
OMIM:212140 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Lethargy |
ORPHA:391673 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Multiple Carboxylase Deficiency |
|
Hyperammonemia |
ORPHA:148 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperammonemia |
OMIM:614739 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Hyperammonemia, Hyperuricemia, Ataxia, Lethargy |
ORPHA:20 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... |
ORPHA:64753 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased plasma carnitine, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Decreased plasma total carnitine, Hyperammonemia |
ORPHA:42 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Thrombocytosis, Ataxia, Hypoalbuminemia |
OMIM:212065 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia |
OMIM:251000 |
Specific Granule Deficiency 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules |
OMIM:617475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... |
ORPHA:292 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Ataxia, Steatorrhea, Hypocalcemia |
OMIM:212750 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia |
ORPHA:27 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... |
OMIM:238600 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Lethargy |
OMIM:275350 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hyperammonemia |
OMIM:610678 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... |
OMIM:619220 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Hyperammonemia |
OMIM:238970 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:47 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hyperammonemia |
ORPHA:1194 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Ataxia, Hepatosplenomegaly, Lymph... |
OMIM:615688 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
East Syndrome |
|
Hypokalemia, Hypomagnesemia, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating... |
ORPHA:199343 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Evans Syndrome |
|
Lethargy, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... |
ORPHA:88673 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia |
OMIM:608885 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia |
ORPHA:79242 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Decreased plasma carnitine, Hyperammonemia |
OMIM:201475 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, An... |
OMIM:214500 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Hsd10 Disease, Infantile Type |
|
Hyperammonemia |
ORPHA:391428 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia |
OMIM:182290 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Waddling gait, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Abnormal pla... |
ORPHA:167 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Colchicine Poisoning |
|
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Neutropenia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine... |
ORPHA:79284 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine kinase, Increased ci... |
ORPHA:71212 |
Citrullinemia, Classic |
|
Hypoargininemia, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia |
OMIM:215700 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Elevated circulating creatine kinase c... |
ORPHA:682 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Decrea... |
ORPHA:99901 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating corticosterone level, Increased circulating ren... |
OMIM:610600 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:609015 |
Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... |
OMIM:612541 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Decrea... |
ORPHA:159 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Anemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a... |
ORPHA:324636 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Infantile Liver Failure Syndrome 3 |
|
Hyperammonemia |
OMIM:618641 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa... |
OMIM:608836 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated circulatin... |
ORPHA:26791 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Hyperammonemia |
OMIM:615486 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... |
OMIM:613179 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Lymphopenia, Thro... |
ORPHA:1830 |
Syndromic Diarrhea |
|
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... |
ORPHA:84064 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia |
OMIM:617303 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia |
OMIM:253270 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia |
OMIM:210200 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me... |
OMIM:277400 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:404 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hyperaldosteronism, Hypokalemia |
OMIM:214700 |
Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... |
ORPHA:3008 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Developmental And Epileptic Encephalopathy 50 |
|
Hyperammonemia |
OMIM:616457 |
Felty Syndrome |
|
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
Familial Hyperaldosteronism Type I |
|
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia |
ORPHA:403 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Hypokalemia |
OMIM:613677 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis |
ORPHA:2905 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia |
ORPHA:778 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... |
OMIM:260400 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Dystonia, Ataxia, Difficulty walking |
OMIM:617595 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ataxia, Dystonia, Neutropenia, Hyperalaninemia |
OMIM:615471 |
Argininosuccinic Aciduria |
|
Hypoargininemia, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia |
OMIM:207900 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... |
ORPHA:556037 |
Cystinosis |
|
Gait disturbance, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Leukopenia, I... |
ORPHA:470 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... |
ORPHA:228308 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran... |
ORPHA:1304 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypokalemia, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulatin... |
OMIM:612780 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
OMIM:616878 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated circulating creatine kinase concentrat... |
ORPHA:480864 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:251274 |
Cohen Syndrome |
|
Neutropenia, Leukopenia |
OMIM:216550 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia, Steatorrhea |
OMIM:617941 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypokalemia, Hyperaldosteronism |
ORPHA:369929 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Hyperammonemia |
OMIM:614052 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia |
ORPHA:508542 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone ... |
ORPHA:556030 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Elevated circulating C-reactiv... |
ORPHA:90051 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Gait disturbance, Attention deficit hyperactivity disorder, Hypertriglyceri... |
ORPHA:819 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... |
OMIM:614700 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased circulating cortisol level, Glucocortocoid-insensitive primary hyperaldosteronism, Hypo... |
ORPHA:231625 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Anemia, Bone-marrow foam cells, Hypercholeste... |
ORPHA:275761 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... |
ORPHA:79240 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Accessory spleen, Thrombocytop... |
OMIM:300972 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Anemia, Splenomegaly, Hypercholesterolemia, H... |
ORPHA:264580 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Abnormality of circulating cortisol level, Hypokalemia |
ORPHA:320 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Hypercholesterolemia, Hypertrig... |
ORPHA:370 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... |
ORPHA:54251 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Argininemia |
|
Hyperargininemia, Hyperammonemia |
OMIM:207800 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Hermansky-Pudlak Syndrome 10 |
|
Dystonia, Neutropenia, Splenomegaly |
OMIM:617050 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Neutropenia, Hyperlipidemia, Hyperuricemia |
OMIM:232220 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Pearson Syndrome |
|
Neutropenia, Hypokalemia, Anemia, Hypophosphatemia, Splenomegaly, Hypomagnesemia, Hyperalaninemia... |
ORPHA:699 |
Hyperlysinemia |
|
Hyperlysinemia, Hypoornithinemia, Hyperammonemia |
ORPHA:2203 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Ataxia |
OMIM:249310 |
Cholera |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Lethargy |
ORPHA:173 |
Biotinidase Deficiency |
|
Hyperammonemia |
OMIM:253260 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism |
OMIM:177735 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Megaloblastic anemia... |
ORPHA:79282 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Neutropenia |
OMIM:608809 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:613090 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... |
ORPHA:3226 |
Mercury Poisoning |
|
Dystonia, Hypokalemia |
ORPHA:330021 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:308230 |
Psoriasis 14, Pustular |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
OMIM:614204 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Ataxia |
ORPHA:2479 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulating C-reactive ... |
OMIM:619644 |
Adrenocortical Carcinoma |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Increased circulating cortisol level, Paradoxical i... |
ORPHA:1501 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Perianal abscess, Hypochromic anemia |
OMIM:618213 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Liver abscess |
ORPHA:69663 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte... |
ORPHA:90674 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism |
OMIM:264350 |
Kasabach-Merritt Syndrome |
|
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia |
OMIM:210210 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypokalemia, Lymphopenia, Decreased propor... |
OMIM:619573 |
Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Anemia, Hypokalemia |
OMIM:619377 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... |
ORPHA:99826 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Adult-Onset Still Disease |
|
Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Neutrophilia, Elevated circ... |
ORPHA:829 |
Biotinidase Deficiency |
|
Hyperammonemia |
ORPHA:79241 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Le... |
ORPHA:36238 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia |
ORPHA:86843 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
ORPHA:1302 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Increased circulating renin level, Hyperaldosteronism, Hypokalemia |
OMIM:607364 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:602522 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen |
OMIM:617053 |
Leigh Syndrome |
|
Athetosis, Dystonia, Neutropenia, Anemia, Hyperalaninemia, Ataxia |
ORPHA:506 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop... |
OMIM:617099 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... |
ORPHA:906 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Abnormal circulating citrulline concentration, Hyperornithinemia, Hyperammonemia |
ORPHA:415 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Attention defic... |
OMIM:227646 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia, Hyperuricemia... |
ORPHA:79259 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Ataxia, Lymphocytosis, Thrombocytopenia, Elevated ... |
ORPHA:50918 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Acute myeloid leukemia, Perianal abscess, Abnormality... |
ORPHA:2968 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Neutropenia, Leukemia, Anemia, Attention deficit hyperactivity disorder, Aplastic anemia |
ORPHA:221008 |
Whim Syndrome |
|
Limb ataxia, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Gitelman Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Ataxia, Hypokalemia |
OMIM:263800 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Acute myeloid leukemia, Neutropenia, Steatorrhea |
OMIM:601347 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hyperammonemia |
OMIM:222700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in pres... |
OMIM:615952 |
Fusariosis |
|
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma |
ORPHA:228119 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia |
ORPHA:2909 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy |
ORPHA:427 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
Vipoma |
|
Hypercalcemia, Normochromic anemia, Increased circulating cortisol level, Hypokalemia |
ORPHA:97282 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Anemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Th... |
ORPHA:534 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Trichothiodystrophy |
|
Anemia, Gait ataxia, Neutropenia, Increased mean corpuscular hemoglobin concentration |
ORPHA:33364 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level |
ORPHA:90795 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... |
ORPHA:3337 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia |
ORPHA:221016 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating corticosterone level, Decreased circulating renin level, Hypokalemia, Decre... |
ORPHA:90793 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Hypocalcemia |
ORPHA:175 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:411629 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Bartter Syndrome, Type 2, Antenatal |
|