| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoglycemic seizures, Hypoketotic hypoglycemia, Larg... |
ORPHA:293964 |
| Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... |
ORPHA:280356 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... |
OMIM:615285 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:619313 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Postnatal growth retardation, Tric... |
ORPHA:75249 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... |
OMIM:617872 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Generalized hirsutism, Lymphocytosis, Lipoatrophy |
ORPHA:79087 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphade... |
ORPHA:79477 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... |
OMIM:262400 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... |
ORPHA:324575 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
| Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... |
ORPHA:79237 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... |
ORPHA:99886 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... |
ORPHA:171706 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepato... |
OMIM:603554 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:604250 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... |
OMIM:617241 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... |
ORPHA:552 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia,... |
OMIM:615387 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... |
OMIM:308240 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... |
OMIM:261740 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Hepatomegal... |
OMIM:606069 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... |
ORPHA:330001 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hyperammonemia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Ne... |
ORPHA:79312 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia |
ORPHA:314802 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
| Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... |
ORPHA:446 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... |
ORPHA:528 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... |
ORPHA:158061 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... |
OMIM:151660 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... |
ORPHA:79083 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... |
OMIM:600334 |
| Mirage Syndrome |
|
Hypoglycemia, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorc... |
OMIM:617053 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:619048 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Edema, Atelectasis |
OMIM:267450 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Generalized ... |
ORPHA:2348 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... |
ORPHA:70587 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent duc... |
ORPHA:980 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Failure to thrive, Hypoglycemia |
OMIM:610090 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia |
ORPHA:100024 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... |
ORPHA:169154 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Hepatic steatosis, Failur... |
ORPHA:26792 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, Hepatomegal... |
ORPHA:264580 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Cellulitis, Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hep... |
OMIM:618986 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... |
OMIM:232400 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Elevat... |
ORPHA:100083 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... |
OMIM:301078 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... |
OMIM:619013 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... |
OMIM:618400 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Hepatomegaly |
OMIM:608776 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... |
ORPHA:276556 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Type I diabetes mellitus, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T ce... |
OMIM:304790 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hepatic failure, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa... |
OMIM:231100 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... |
OMIM:617514 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Throm... |
OMIM:251000 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increase... |
ORPHA:98850 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... |
ORPHA:199241 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Alopecia, Hepatitis, Failure to thrive, Hypocalcemia, Abnormality of the lymphatic sy... |
ORPHA:47 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... |
OMIM:619386 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... |
ORPHA:507 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis |
ORPHA:188 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuffi... |
OMIM:618752 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
| Propionic Acidemia |
|
Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Pan... |
OMIM:606054 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th... |
OMIM:209950 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... |
ORPHA:1667 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated diastolic blood pressure, Intrauterine growth retardat... |
ORPHA:275555 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope... |
OMIM:251110 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... |
ORPHA:280365 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... |
OMIM:262700 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... |
ORPHA:33355 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... |
OMIM:602450 |
| Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomega... |
ORPHA:47612 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Inguinal hernia, Splenomegaly, Cr... |
OMIM:612541 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Immunodeficiency 46 |
|
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Wolman Disease |
|
Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachex... |
ORPHA:75233 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... |
ORPHA:71212 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Elevated cir... |
OMIM:618805 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... |
OMIM:603471 |
| Immunodeficiency 9 |
|
Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperfecta, Abnormal natur... |
OMIM:612782 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema |
ORPHA:70578 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s... |
OMIM:619046 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79086 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... |
OMIM:600955 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... |
ORPHA:42 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... |
ORPHA:66529 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... |
ORPHA:231144 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive |
OMIM:602361 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... |
OMIM:253700 |
| Pfapa Syndrome |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
| Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat... |
ORPHA:2394 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... |
OMIM:619418 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... |
OMIM:246900 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Hepat... |
OMIM:214110 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... |
ORPHA:2126 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Cutaneous abs... |
ORPHA:101330 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liver, Thrombocytosis, In... |
ORPHA:84064 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... |
ORPHA:3226 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... |
OMIM:613327 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:608594 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... |
OMIM:300972 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... |
ORPHA:542323 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232220 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol... |
ORPHA:247598 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th... |
OMIM:243150 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Hirsutism, Absent neutrophil specific granules, Amelogenesis imperfecta, Neutr... |
OMIM:617475 |
| Truncus Arteriosus |
|
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arte... |
ORPHA:3384 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Cryptor... |
OMIM:618958 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel... |
ORPHA:572 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... |
ORPHA:64739 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration, Neona... |
OMIM:618835 |
| Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Immunodeficiency 10 |
|
Hypoglycemia, Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal lympho... |
OMIM:612783 |
| Cyclic Neutropenia |
|
Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per... |
ORPHA:2686 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration, Neona... |
OMIM:618839 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
| Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... |
OMIM:201400 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... |
ORPHA:453533 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature gray... |
OMIM:613989 |
| High Altitude Pulmonary Edema |
|
Pulmonary edema, Tachycardia |
ORPHA:330012 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... |
OMIM:261680 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... |
OMIM:616834 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:269700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia, Neutropenia, Sparse hair, Small for gestational age |
OMIM:618253 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hypocholesterolemia, Neonatal death, Brittle hair, Hepatomegaly, Hydrocele testis |
OMIM:618810 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Sparse hair, Neonatal hypoglycem... |
ORPHA:631 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Jau... |
OMIM:250940 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... |
ORPHA:263455 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome... |
OMIM:614857 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... |
ORPHA:79096 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyper... |
ORPHA:189427 |
| Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinop... |
OMIM:226990 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... |
OMIM:300148 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... |
ORPHA:2088 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... |
OMIM:617591 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Hypoglycemia, Graves d... |
ORPHA:199299 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... |
ORPHA:494444 |
| Mogs-Cdg |
|
Generalized edema, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal def... |
ORPHA:79330 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Infection a... |
ORPHA:445038 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Abnormal hair morphology, Lymphopenia, Glucose intolerance, Decreased proporti... |
OMIM:208900 |
| Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... |
ORPHA:300536 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Chronic hepatitis, Splenomeg... |
OMIM:308230 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Umbilical hernia, Hyposegmentation of neutrophil nuclei, Neut... |
OMIM:169400 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97289 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Coarse hair, Long eyelashes, Leukopenia, Splenomega... |
OMIM:617303 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmune thrombocytopenia, Alopecia, F... |
ORPHA:37042 |
| Ataxia-Telangiectasia |
|
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur... |
ORPHA:100 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Aredyld Syndrome |
|
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Type II diabetes m... |
ORPHA:1133 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Combined Malonic And Methylmalonic Acidemia |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Dicarbo... |
ORPHA:289504 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac... |
ORPHA:2169 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypertrichos... |
OMIM:262190 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:617950 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomyopathy |
OMIM:105210 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... |
ORPHA:247585 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
OMIM:212065 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:557000 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatome... |
OMIM:214500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... |
ORPHA:156 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... |
OMIM:264470 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circulating aspa... |
OMIM:614034 |
| Autosomal Agammaglobulinemia |
|
Cellulitis, Failure to thrive, Hepatitis, Neutropenia |
ORPHA:33110 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macr... |
ORPHA:292 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic ane... |
OMIM:614700 |
| Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... |
OMIM:617253 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... |
ORPHA:486 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:610883 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hepatic stea... |
ORPHA:412 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... |
OMIM:260400 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, ... |
OMIM:617575 |
| Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in in... |
OMIM:618156 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Hypertrichosis, Cholestasis, Hy... |
OMIM:246200 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, T... |
OMIM:269200 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum estradiol, Alopecia, Elevated circulating hepatic transaminase concentration, Sma... |
ORPHA:2959 |
| Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Cryptorchidism, Hypoglycemia |
ORPHA:2022 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:69077 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,... |
ORPHA:90068 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia, Joint contracture |
OMIM:620443 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:603909 |
| Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr... |
ORPHA:6 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Thrombocyto... |
ORPHA:391673 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphop... |
ORPHA:1830 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... |
ORPHA:275761 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem... |
ORPHA:199296 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Chronic neutropenia, Hypothyroi... |
ORPHA:79259 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Alopecia of scalp, Nail dystrophy, Autoi... |
ORPHA:436252 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular ... |
ORPHA:83469 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Failure to thrive, Umbilical hernia, Large for gestational age, Thro... |
OMIM:614520 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... |
ORPHA:465508 |
| Pseudomyxoma Peritonei |
|
Hernia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... |
ORPHA:53035 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Flexion contracture, Neonatal hypog... |
OMIM:616271 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Panniculitis, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... |
ORPHA:96180 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... |
OMIM:277380 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration |
ORPHA:90081 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... |
ORPHA:14 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrophy, O... |
ORPHA:31150 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cryptorch... |
ORPHA:79239 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Ethylene Glycol Poisoning |
|
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... |
ORPHA:31826 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Neonatal hypoglycemia, Small for gestational age, Hypoglycemia, Decreased body weight |
ORPHA:231140 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypogonadism, Long eyelashes, Hypocalcemia |
ORPHA:163693 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... |
ORPHA:520 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc... |
OMIM:275350 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis |
ORPHA:210548 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos... |
ORPHA:228426 |
| Majeed Syndrome |
|
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... |
ORPHA:77297 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... |
ORPHA:298 |
| Alg12-Cdg |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
ORPHA:79324 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia, Sti... |
OMIM:152800 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Barth Syndrome |
|
Fair hair, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia,... |
OMIM:302060 |
| Ogden Syndrome |
|
Torsade de pointes, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bic... |
OMIM:300855 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... |
OMIM:611126 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:245400 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia,... |
OMIM:251100 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Abnormal circulating lipid concentration, Premature graying of hair, Ab... |
ORPHA:1979 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocyt... |
ORPHA:134 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... |
OMIM:617052 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:79322 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia, Hypoglycemia |
OMIM:620137 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... |
OMIM:201475 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Leukopenia, Thick eyebrow, Childhood-onset... |
OMIM:216550 |
| Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Elevat... |
ORPHA:90051 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly |
ORPHA:5 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... |
OMIM:617941 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype... |
ORPHA:94086 |
| Fusariosis |
|
Cellulitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia, Abnormal... |
ORPHA:228119 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive |
OMIM:618234 |
| Mhc Class Ii Deficiency 1 |
|
Failure to thrive, Biliary tract abnormality, Neutropenia, Cholangitis, Viral hepatitis |
OMIM:209920 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... |
OMIM:231530 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
| Japanese Encephalitis |
|
Skeletal muscle atrophy, Elbow flexion contracture, Distal lower limb muscle weakness, Pulmonary ... |
ORPHA:79139 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... |
OMIM:201450 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Panniculitis, Weight loss, Splenomegaly |
ORPHA:33577 |
| Glucocorticoid Deficiency 1 |
|
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... |
OMIM:202200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly |
OMIM:620210 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... |
ORPHA:131 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Large... |
ORPHA:167 |
| Laron Syndrome |
|
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... |
ORPHA:633 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... |
ORPHA:398063 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Tiger tail bandin... |
OMIM:616395 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Cryptorchidism, Neutropenia, Synophrys |
OMIM:618067 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
| Scorpion Envenomation |
|
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... |
ORPHA:466677 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Ompha... |
ORPHA:563609 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... |
OMIM:615486 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Sparse lateral eyebrow, Leukopenia, Nail dystrophy, Splenomegaly, Elevated circul... |
OMIM:604173 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, Hepatic steatosis |
OMIM:615996 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity |
OMIM:618160 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... |
OMIM:614582 |
| Idiopathic Achalasia |
|
Weight loss, Decreased circulating prealbumin concentration |
ORPHA:930 |
| Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97283 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Fair hair, Hepatosplenomegal... |
OMIM:608233 |
| Alstrom Syndrome |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mel... |
OMIM:203800 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Leukopenia, Leuk... |
ORPHA:20 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| 3-Methylglutaconic Aciduria, Type V |
|
Failure to thrive, Normochromic microcytic anemia, Elevated circulating aspartate aminotransferas... |
OMIM:610198 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,... |
ORPHA:293173 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia |
ORPHA:231147 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemol... |
OMIM:615952 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Reduced number of int... |
ORPHA:79284 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure ... |
OMIM:619644 |
| Hermansky-Pudlak Syndrome 10 |
|
Albinism, Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Autoimmune Hepatitis |
|
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... |
ORPHA:2137 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ... |
ORPHA:277 |
| Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukon... |
ORPHA:2905 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Long eyelashes, Leukopenia, Elevated circulating creatinine concentration, Reduced h... |
OMIM:301110 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,... |
OMIM:608836 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Alopecia, Cholelithiasis, Type I diabetes mellitus, Female hypogonadism, Ma... |
OMIM:240300 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Recurrent hypog... |
ORPHA:293978 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Bilateral... |
OMIM:242900 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Elevated circulating aspartate aminotransferase concentration, Elevated c... |
OMIM:616433 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Biliar... |
ORPHA:227990 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Acut... |
OMIM:256810 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Neonatal... |
OMIM:601186 |
| Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemi... |
OMIM:232240 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Splenomegaly, Dystrophic fingernails, Patchy alop... |
ORPHA:2930 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Subcutaneous lipoma, In... |
OMIM:131100 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam... |
OMIM:212138 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Hypoglycemia, Hirsutism, Hypothyroidism, Neutropenia, Joint contracture |
OMIM:618005 |
| Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... |
ORPHA:95619 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Hyperaldosteronism, Increased urinary corti... |
ORPHA:1501 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Failure to thrive in inf... |
ORPHA:171876 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Alopecia, Biliar... |
ORPHA:227982 |
| Hellp Syndrome |
|
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... |
ORPHA:244242 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased... |
OMIM:613986 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Elevated circulating hepatic transaminase ... |
OMIM:619487 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Hypoglycemia, Failure to thrive, Abnormal circulating andro... |
ORPHA:90790 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... |
OMIM:201910 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... |
ORPHA:348 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology... |
ORPHA:50918 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu... |
ORPHA:97287 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc... |
OMIM:619377 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... |
OMIM:616483 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa... |
ORPHA:331206 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insuffici... |
ORPHA:85138 |
| Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite... |
ORPHA:525731 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Generalized hirsu... |
ORPHA:254346 |
| Smith-Kingsmore Syndrome |
|
Hypoglycemia, Umbilical hernia, Large for gestational age, Cryptorchidism, Thrombocytopenia, Curl... |
OMIM:616638 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... |
ORPHA:90362 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatic failure, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating aspartat... |
OMIM:619573 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Hypothyroidism, Neutropeni... |
OMIM:251900 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... |
OMIM:615415 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... |
OMIM:231680 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Hypoglycemia, Fine hair, Long eyelashes, Small for gestational age |
ORPHA:231137 |
| Aromatase Deficiency |
|
Insulin resistance, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Type II diabetes ... |
ORPHA:91 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Hypoglycemia, Dorsocervical fat pad, Low anterior hairline, Decreased body weight, Hyp... |
ORPHA:391408 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Fai... |
OMIM:276700 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-reactive protein... |
ORPHA:2070 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... |
OMIM:609197 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Decreased liver function, Hypertrichosis, Hypoglycemia, Elevated circulating a... |
OMIM:608779 |
| Shigellosis |
|
Hepatic failure, Microangiopathic hemolytic anemia, Hypoglycemia, Cholestasis, Failure to thrive ... |
ORPHA:810 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:913 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morpholog... |
ORPHA:317 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome... |
OMIM:102700 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hernia, Anemia, Weight loss, Hepatomegaly |
ORPHA:1842 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... |
OMIM:614921 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Eosinophilic Fasciitis |
|
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss |
ORPHA:3165 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... |
OMIM:609069 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia,... |
OMIM:613179 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia... |
ORPHA:436159 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... |
OMIM:232200 |
| Immunodeficiency 44 |
|
Lymphopenia, Elevated circulating alanine aminotransferase concentration |
OMIM:616636 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... |
ORPHA:276 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Small for gestational age |
OMIM:614702 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... |
OMIM:618329 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus... |
ORPHA:340 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Finger joint contracture, Hypoglycemia, Flexion contracture of toe |
ORPHA:48431 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym... |
ORPHA:90363 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Thick eyebrow, Hypera... |
OMIM:615471 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, L... |
ORPHA:73272 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... |
OMIM:616263 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... |
OMIM:616113 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Glycosuria, Failure to thrive... |
OMIM:227810 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase con... |
OMIM:618120 |
| Glucagonoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... |
ORPHA:97280 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Sparse pubic hair, Decreased serum estradiol, Adrenocorticot... |
ORPHA:91355 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism |
ORPHA:2430 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:609015 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating... |
ORPHA:95409 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... |
ORPHA:90791 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97278 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pan... |
OMIM:613990 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypoglycemia, Increased circulating prolactin concentration, Failure to thrive, Joint contracture |
ORPHA:35708 |
| Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97261 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Testicular seminoma, Fasting hypoglycemia,... |
OMIM:180860 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Decreased bod... |
OMIM:609053 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, Hyperalaninemia, Hyperammonemia, Hypoglycemia |
OMIM:614739 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys... |
OMIM:617099 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
| Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Impaired... |
OMIM:614162 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyelashes, Sparse fa... |
OMIM:250250 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thy... |
ORPHA:83471 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
| Klatskin Tumor |
|
Weight loss, Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:228308 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Abnormal lymphati... |
ORPHA:2330 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Premature graying of hair, Lymphopenia, Portal hypertension, Nail dystr... |
OMIM:620365 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... |
ORPHA:73224 |
| Evans Syndrome |
|
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ... |
ORPHA:169160 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Eosino... |
ORPHA:139402 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hepatic steatosis, Inguinal hernia, Pancreatitis, Hyperhom... |
OMIM:236200 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Lymphocytosis, Neutropenia, Curly hair,... |
OMIM:258360 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive |
ORPHA:977 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia |
ORPHA:93941 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... |
OMIM:615453 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitus, Fail... |
OMIM:212750 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content,... |
OMIM:300559 |
| Glucocorticoid Deficiency 2 |
|
Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,... |
OMIM:607398 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:26791 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:613070 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... |
OMIM:613658 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618935 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Reduction of neutrophil motility, Widow's peak, Neutrophilia |
OMIM:266265 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... |
OMIM:207750 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia... |
OMIM:227645 |
| Long-Olsen-Distelmaier Syndrome |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:620609 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Lymphadenopathy, Hypo... |
ORPHA:2221 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Hydroce... |
OMIM:605309 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased circulating carnitine concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:246450 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po... |
ORPHA:284 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
| Glutaric Acidemia I |
|
Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia |
OMIM:231670 |
| Relapsing Fever |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... |
ORPHA:91547 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... |
OMIM:615595 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:618278 |
| D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Primary ... |
OMIM:261515 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Omphalocele |
OMIM:617022 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepati... |
ORPHA:746 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Elevated circulating crea... |
ORPHA:85450 |
| Leigh Syndrome |
|
Alopecia, Hepatic failure, Failure to thrive, Hypoglycemia, Hypertrichosis, Multiple joint contra... |
ORPHA:506 |
| Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... |
OMIM:619991 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100080 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Obesity, Splenomegaly, Inguinal hernia,... |
OMIM:188400 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... |
ORPHA:100085 |
| Immunodeficiency 59 And Hypoglycemia |
|
High anterior hairline, Hypoglycemia, Prolonged neonatal jaundice, Decreased proportion of class-... |
OMIM:233600 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Decreased liver function, Failure to thrive, Hepatomegaly, Anemia, Diffuse hepatic st... |
ORPHA:436271 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Hyperbilirubinemia, Cryptorchidism, Sparse eyelashes, Ab... |
OMIM:619075 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... |
OMIM:620300 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Vici Syndrome |
|
Failure to thrive, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat... |
OMIM:613239 |
| Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ... |
OMIM:248600 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4... |
OMIM:275000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Hyperam... |
ORPHA:79282 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Morgagni diaphragmatic hernia, Umbilical hernia, Inguinal hernia, Hypoplasia of... |
OMIM:613177 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Long eyelashes, Hypocal... |
OMIM:606407 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia... |
OMIM:277400 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Hyperalaninemia, Ketotic hypoglycemia, Failure to thrive |
OMIM:620646 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
| Moynahan Syndrome |
|
Hypogonadism, Alopecia, Sparse hair, Cachexia |
ORPHA:2574 |
| Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
OMIM:124000 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ... |
OMIM:619355 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Pituitary hypothyroidism, Hypoglycemia, Umbilical hernia, Hypopituit... |
ORPHA:226307 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... |
ORPHA:159 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Thick eyebrow, Hypoglycemia, Hypertrichosis |
OMIM:616260 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100075 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Neutropenia |
OMIM:620012 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Recurrent hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Sparse hair, ... |
OMIM:616817 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Hypothyroidism, Del... |
ORPHA:95496 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Low plasma citrul... |
ORPHA:95427 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Weight lo... |
ORPHA:67 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt... |
OMIM:300755 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Neonatal death, Neutropenia, Jaundice, Neonatal hypoglycemia |
OMIM:617248 |
| Cog8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
| Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Sparse ... |
ORPHA:79474 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... |
OMIM:616100 |
| Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Elevated circulating C-reactive... |
ORPHA:160 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hepatic stea... |
OMIM:615846 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... |
ORPHA:157 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia |
ORPHA:90060 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia |
OMIM:240200 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Long eyelashes, Thick eyebrow, Obesity, Cryptorchidism, Low anterio... |
ORPHA:193 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatomegaly |
OMIM:614922 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... |
OMIM:619525 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circula... |
OMIM:612852 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100082 |
| Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa... |
ORPHA:508 |
| Monosomy 13Q34 |
|
Insulin resistance, Horizontal eyebrow, Obesity, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
| Whipple Disease |
|
Insulin resistance, Splenomegaly, Hyponatremia, Hepatomegaly, Cachexia, Hypothyroidism, Anemia, M... |
ORPHA:3452 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypoglycemia, Inguinal hernia, Cryptorchidism, Hypothyroidism, Small for gestational age |
ORPHA:397590 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Hypothyroidism, Lymphadenopathy, Neutropenia, Autoimmune thromboc... |
OMIM:607944 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
| Toxic Epidermal Necrolysis |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc... |
ORPHA:537 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Pulmonary edema, Bicuspid aort... |
OMIM:220111 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Panc... |
ORPHA:549 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Elevated circulating hepatic transaminase ... |
OMIM:615688 |
| Bloom Syndrome |
|
Hypertrichosis, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism, Leukemia, Elevated ... |
OMIM:210900 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Treacher-Collins Syndrome |
|
Failure to thrive, Abnormal hair morphology, Abnormal dental enamel morphology, Cryptorchidism, L... |
ORPHA:861 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, ... |
OMIM:301066 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Decreased liver function, Failure to thrive, Hepatomegaly, Increased intramyocellular... |
OMIM:220110 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... |
OMIM:615751 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Increased circulating cortisol level, Abnormal lymph node morphology, Increase... |
ORPHA:99889 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... |
ORPHA:2969 |
| Fructose Intolerance, Hereditary |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr... |
OMIM:229600 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... |
OMIM:619510 |
| Q Fever |
|
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepatosplenomegaly... |
ORPHA:781 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, ... |
ORPHA:567 |
| Diencephalic Syndrome |
|
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight |
ORPHA:1672 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Nail dystrophy, Neutrophilia, Elevated circulating C-reactive protein concentration... |
OMIM:614204 |
| Dubowitz Syndrome |
|
Aplastic anemia, Sparse lateral eyebrow, Hypocholesterolemia, Inguinal hernia, Cryptorchidism, Ac... |
OMIM:223370 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia |
OMIM:207731 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc... |
ORPHA:499009 |
| Whim Syndrome |
|
Cellulitis, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Fine hair, Abnormal dental enamel morphology, Decreased response to ... |
ORPHA:1896 |
| Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Trichiasis, Failure to thrive, Lymphopenia, Corneal scarring, Joint contra... |
OMIM:618460 |
| Isolated Complex I Deficiency |
|
Failure to thrive, Hypoglycemia, Hepatomegaly, Increased serum pyruvate, Diabetes mellitus |
ORPHA:2609 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Cholecyst... |
ORPHA:100086 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat... |
OMIM:127550 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Hirsutism, E... |
OMIM:617237 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Weight loss, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma |
ORPHA:142 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse eyebrow, Alopecia, Failure to thrive, Alopecia of scalp, Absence of subcutaneous fat, Redu... |
OMIM:264090 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Thick eyebrow, Fasting hypoglycemia |
ORPHA:436174 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Abnormal hair quantity |
ORPHA:1116 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus, Weight loss, Failure to thrive |
ORPHA:178029 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Hypogonadism, Sparse or abs... |
ORPHA:221008 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Failure to thrive, Hypocalcemia, Hepatomegaly, Neutropenia, Anemia, Sparse hair, ... |
ORPHA:175 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Elevated circulating hepatic transaminase... |
ORPHA:99826 |
| Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... |
OMIM:619481 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Lymphopenia, Leukopenia, Nail dystrophy, Follicular hyperplasia, Elevated circ... |
OMIM:615934 |
| Zygomycosis |
|
Cellulitis, Brain abscess, Hepatitis, Fasciitis, Peritonitis, Pancreatitis, Splenic abscess, Neut... |
ORPHA:73263 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lymphopeni... |
ORPHA:1572 |
| Glycerol Kinase Deficiency |
|
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... |
OMIM:307030 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Neonatal death, Elevated circulating creatine k... |
OMIM:619055 |
| Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Weight loss, Hypercalcemia, Failure to thrive |
OMIM:143880 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... |
OMIM:619767 |
| Reynolds Syndrome |
|
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope... |
OMIM:613471 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Splenomegaly, Increased intramyocellular lipid ... |
OMIM:252010 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hyperna... |
OMIM:620423 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Cholestatic liver disease, Precocious puberty, Failure to thrive, Hypocholestero... |
OMIM:270400 |
| Renpenning Syndrome |
|
Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Decreased testicular size, Cachexia, Diabe... |
ORPHA:3242 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Camptodactyly of finger, Hepatosplenomegaly, Inguinal hernia, Splenomegaly, Hi... |
ORPHA:354 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Aplastic anemia, Fine hair, Nail dystrophy, Macrocytic anemia, Neutr... |
OMIM:268130 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Umbilical hernia, Tiger tail banding, Alopec... |
ORPHA:33364 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Failure to thrive, Hypoket... |
OMIM:610768 |
| Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad... |
OMIM:615577 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Elevat... |
ORPHA:36238 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Elevated carcinoma antigen 125 level, Weight loss, Pancreatitis, Anemia, Jaun... |
ORPHA:370348 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Sparse eyel... |
ORPHA:2909 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Decreased circulating carnitine concentration, Failure to thrive, Hypoglycemia, Hyperam... |
OMIM:210210 |
| Short Syndrome |
|
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... |
ORPHA:3163 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:480864 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran... |
ORPHA:404454 |
| Hsd10 Disease, Infantile Type |
|
Hyperammonemia, Hypoglycemia |
ORPHA:391428 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Ab... |
OMIM:619321 |
| Brucellosis |
|
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality ... |
ORPHA:1304 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia... |
ORPHA:391487 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypoglycemia, Hypocalcemia, Cryptorchidism, Small for gestational age |
OMIM:607143 |
| Cardiofacioneurodevelopmental Syndrome |
|
Camptodactyly, Asplenia, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
| Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:619004 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, M... |
OMIM:620565 |
| D-Glyceric Aciduria |
|
Elevated circulating D-glyceric concentration, Failure to thrive, Nonketotic hyperglycinemia, Hyp... |
OMIM:220120 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatic... |
ORPHA:17 |
| Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... |
ORPHA:289548 |
| Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Long eyelashes, Weight loss, Neutropenia, Hypopigmentation of ... |
ORPHA:79430 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:244450 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph... |
ORPHA:79128 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:616878 |
| Holoprosencephaly |
|
Highly arched eyebrow, Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, Pan... |
ORPHA:2162 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A... |
ORPHA:168558 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Generalized lipodystroph... |
OMIM:619127 |
| Beckwith-Wiedemann Syndrome |
|
Polycythemia, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency, ... |
ORPHA:116 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Weight lo... |
ORPHA:635 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... |
OMIM:301310 |
| Flynn-Aird Syndrome |
|
Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl... |
ORPHA:2047 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... |
ORPHA:813 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... |
ORPHA:93111 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Abnormal dental enamel morphology, Alopecia totalis, Sparse or absent eyelashes,... |
ORPHA:221016 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia |
ORPHA:157973 |
| Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L... |
ORPHA:247353 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Frontal balding, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal... |
ORPHA:90794 |
| Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
| Microsporidiosis |
|
Brain abscess, Hepatitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormality of the... |
ORPHA:2552 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Congenital Tufting Enteropathy |
|
Steatorrhea, Weight loss, Failure to thrive, Cholestatic liver disease |
ORPHA:92050 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Selective Igm Deficiency |
|
Cellulitis, Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Fasci... |
ORPHA:331235 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Nail dystrophy, Cryptorc... |
ORPHA:163956 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Familial Colorectal Cancer Type X |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Weight loss, Abnorma... |
ORPHA:440437 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Synophrys |
ORPHA:2471 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Hepatomegaly, Increased circulati... |
ORPHA:85443 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia,... |
ORPHA:454836 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Elbow contracture, Inguinal hernia, Hypoglycemia, Umbilical hernia |
OMIM:620275 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... |
OMIM:618223 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100078 |
| Basilicata-Akhtar Syndrome |
|
Camptodactyly, Neonatal hypoglycemia, Precocious puberty |
OMIM:301032 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Sotos Syndrome |
|
Sparse eyebrow, High anterior hairline, Glucose intolerance, Cryptorchidism, Increased body weigh... |
OMIM:117550 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Inguinal hernia, Polysplenia |
OMIM:208530 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Hypoglycemia, Hypertrichosis, Long eyelashes, Synophrys |
OMIM:617190 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Lymphadenopathy, Anemia... |
ORPHA:29073 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
| Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight loss |
ORPHA:449400 |
| Monosomy 22 |
|
Contractures of the large joints, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcyt... |
ORPHA:96123 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Failure to thriv... |
ORPHA:99885 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... |
ORPHA:35078 |
| Polymyositis |
|
Hepatomegaly, Chondrocalcinosis, Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:732 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Failure to thrive, ... |
OMIM:219800 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Neonatal hypoglycemia, Cryptorchidism, Curly hair |
ORPHA:457485 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre... |
OMIM:600802 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Cachexia, Anemia |
OMIM:175500 |
| Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index |
ORPHA:399 |
| Ménétrier Disease |
|
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enthesitis, Anemia, Flexion contracture |
ORPHA:85408 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss |
ORPHA:388 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... |
ORPHA:96253 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Small for gestational age, Neutropenia |
OMIM:617799 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Abnormal circulating lipid concentration, Lymphopenia, Inguinal hernia, Crypt... |
OMIM:616541 |
| Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea... |
ORPHA:143 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... |
OMIM:620005 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Camptodactyly of finger, Supernumerary nipple, Umbilical hernia, Hypoglycemia, Ingui... |
ORPHA:373 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia,... |
ORPHA:469 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... |
ORPHA:760 |
| Christianson Syndrome |
|
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita |
ORPHA:85278 |
| Garg-Mishra Progeroid Syndrome |
|
Sparse hair, Microvesicular hepatic steatosis |
OMIM:620601 |
| Bardet-Biedl Syndrome |
|
Insulin resistance, Hepatic fibrosis, Medial flaring of the eyebrow, Elevated circulating hepatic... |
ORPHA:110 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Lipoma, Neoplasm of the adrenal... |
ORPHA:109 |
| Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis |
ORPHA:319218 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce... |
OMIM:619381 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Hepatomegaly, Peritonitis, Elevated circulating amyloid A c... |
OMIM:249100 |
| Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Low anterior hairline, Generalized hirsutism, Asplenia, Widow's peak |
OMIM:617746 |
| Perlman Syndrome |
|
Hypoglycemia, Large for gestational age, Cryptorchidism, Congenital diaphragmatic hernia, Pancrea... |
OMIM:267000 |
| Non-Functioning Paraganglioma |
|
Weight loss, Hypercalcemia, Paraganglioma, Paraganglioma of head and neck |
ORPHA:94080 |
| Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... |
ORPHA:90062 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Cachexia, Diabetes insipidus |
ORPHA:97229 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Weight loss, Leu... |
ORPHA:99867 |
| Camurati-Engelmann Disease |
|
Hypogonadism, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous fat tissue distribut... |
ORPHA:1328 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Weight loss, Hepatomegaly, Alopecia, Enlargement of parotid gland... |
ORPHA:797 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Cryptorchidism, Camptodactyly of finger |
ORPHA:99776 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss, Elevated circulating C-reactive protein concentration |
ORPHA:324964 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Neonatal hypoglycemia |
OMIM:617600 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Limb joint contracture, Flexion contracture, Arthrogryposis multiplex c... |
OMIM:618186 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Hip contracture |
OMIM:616801 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia |
ORPHA:2268 |
| Stevens-Johnson Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc... |
ORPHA:36426 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Umbilical hernia, Fine hair, Hepatosplenomegaly, Inguinal hernia, Hip contr... |
ORPHA:576 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Elevated circulating dihydroxyphenylacetic acid co... |
OMIM:223360 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Neonatal hypoglycemia, Broad lateral eyebrow, Obesity |
OMIM:608624 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy |
ORPHA:52417 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow, Central adren... |
OMIM:616007 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia |
OMIM:260920 |
| Giant Cell Arteritis |
|
Alopecia, Hepatic failure, Weight loss, Diabetes insipidus, Mediastinal lymphadenopathy |
ORPHA:397 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Atypical scarring of skin, Elevated circul... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Atypical scarring of skin, Elevated circul... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Atypical scarring of skin, Elevated circul... |
ORPHA:99226 |
| Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Atypical scarring of skin, Elevated circul... |
ORPHA:881 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cerv... |
ORPHA:3260 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Failure to thrive, Umbilical hernia, Microcytic anemia, Long eyelashes, Leukocytosis, Low anterio... |
ORPHA:99843 |
| Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Menkes Disease |
|
Sparse hair, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguin... |
ORPHA:565 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Obesity, Weight... |
ORPHA:79102 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Lymphopenia, Inguinal hernia, Anemia, Abnormality of the pancreas |
ORPHA:935 |
| Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Weight loss, Failure to thrive |
OMIM:256700 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Decreased retinol-binding protein level, Decreased liver function, Abnormal mesent... |
ORPHA:449395 |
| Erdheim-Chester Disease |
|
Xanthelasma, Hypogonadotropic hypogonadism, Weight loss, Anemia, Diabetes insipidus, Retroperiton... |
ORPHA:35687 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| 1P36 Deletion Syndrome |
|
Horizontal eyebrow, Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadism, A... |
ORPHA:1606 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Congenital foot contractures, Cryptorchidism |
ORPHA:565624 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia |
OMIM:243910 |
| Pyomyositis |
|
Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss, Alopecia of scalp, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Hepatic st... |
OMIM:619503 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate... |
OMIM:615356 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypopituitarism, Dec... |
ORPHA:90695 |
| Alström Syndrome |
|
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,... |
ORPHA:64 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
| Oculodentodigital Dysplasia |
|
Fine hair, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Hypoglyc... |
ORPHA:2710 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia, Low anterior hairline |
OMIM:620224 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... |
ORPHA:154 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Corn... |
OMIM:610965 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Steatorrhea, Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia |
OMIM:271510 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Transient neutropenia, Inguinal hernia, Camptodactyly, Chronic neutrop... |
ORPHA:500095 |
| Aspartylglucosaminuria |
|
Hernia, Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Macroorchidism |
OMIM:208400 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Weight loss, H... |
OMIM:181000 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Umbilical hernia |
OMIM:614501 |
| Thauvin-Robinet-Faivre Syndrome |
|
Large for gestational age, Transient neutropenia, Inguinal hernia |
OMIM:617107 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Hypoglycemia |
OMIM:620451 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Sparse or absent eyel... |
ORPHA:217346 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... |
ORPHA:371364 |
| Kabuki Syndrome 2 |
|
Highly arched eyebrow, Sparse lateral eyebrow, Long eyelashes, Hirsutism, Decreased body weight, ... |
OMIM:300867 |
| Nocardiosis |
|
Cellulitis, Brain abscess, Cutaneous abscess, Lymphadenitis, Peritonitis, Abnormality of the adre... |
ORPHA:31204 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Insulin resistance, Precocious puberty, Failure to thrive, Decreased respon... |
ORPHA:96182 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Polysplenia, Abdominal situs inversus, Biliary atresia, Omphalocele, Hepatomeg... |
OMIM:306955 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
| Down Syndrome |
|
Polycythemia, Umbilical hernia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia... |
ORPHA:870 |
| Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Tetrasomy 12P |
|
Cachexia, Sparse eyebrow, Sparse hair |
ORPHA:884 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elbow flexion contracture, Large for gestational age, Knee flexion contracture, Hip contracture, ... |
OMIM:300868 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Malformation of the hepatic ductal p... |
OMIM:249000 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Viral hepatitis |
ORPHA:91139 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
| Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
| Meckel Syndrome |
|
Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... |
ORPHA:564 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... |
OMIM:201750 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia |
ORPHA:1438 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Sparse eyebrow, Absent nipple, Congenital hypothyroidism, Nail dystrophy, Hypoplastic nipples, Ap... |
OMIM:620186 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph... |
ORPHA:3337 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Abnor... |
ORPHA:85293 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Hyperbilirub... |
OMIM:619475 |
| Fanconi Anemia |
|
Umbilical hernia, Hypogonadism, Leukopenia, Abnormality of the liver, Cryptorchidism, Weight loss... |
ORPHA:84 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Hepa... |
OMIM:130650 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Paraganglioma, Weight loss, Paraganglioma of head and neck, Hypercalcem... |
ORPHA:276621 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog... |
ORPHA:95494 |
| African Trypanosomiasis |
|
Alopecia, Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Abnormalit... |
ORPHA:3385 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Hashimoto thyroiditis, Weight l... |
ORPHA:49041 |
| Lynch Syndrome |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Salivary gland neopl... |
ORPHA:144 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:251071 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Recurrent hypoglycemi... |
OMIM:620305 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Sparse hair, Joint contracture of the 5th finger |
OMIM:619934 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Camptodactyly of finger |
ORPHA:2774 |
| Pseudoaminopterin Syndrome |
|
Highly arched eyebrow, Frontal upsweep of hair, Inguinal hernia, Cryptorchidism, Asplenia, Poster... |
ORPHA:221120 |
| Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Weight loss, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia |
ORPHA:536 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Paraganglioma, Weight loss, Paraganglioma of head and neck, Elevated ci... |
ORPHA:29072 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
| Cockayne Syndrome |
|
Dry hair, Congenital contracture, Contractures of the large joints, Fine hair, Elevated circulati... |
ORPHA:191 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia |
ORPHA:35710 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Lymphopenia, Hypocalcemia, Splenomegaly, Sparse axillary hair, Lymphaden... |
ORPHA:2136 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatic failure, Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, ... |
ORPHA:99827 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Granulomatosis With Polyangiitis |
|
Weight loss, Granulomatosis |
OMIM:608710 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Atypical scarring of skin, Elevated circulating hepatic transaminase concentration, N... |
ORPHA:95455 |
| Granulomatosis With Polyangiitis |
|
Weight loss, Pancreatitis, Granulomatosis, Elevated circulating C-reactive protein concentration,... |
ORPHA:900 |
| Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Asplenia, Congenital diaphragmatic hernia |
OMIM:273395 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Costello Syndrome |
|
Failure to thrive, Hypoglycemia, Curly hair, Lymphangiectasis, Achilles tendon contracture, Spars... |
OMIM:218040 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Thyroiditis, Biliary cirrhosis, Chronic active hepatitis, Parotitis, Lymphopen... |
ORPHA:289390 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Subcutaneous lipoma, Cachexia, Anemia, Refractory anemia |
ORPHA:79076 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Neonatal death, Omphalocele, Pulmonary lymphangiectasia, Asplenia |
OMIM:265380 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Small for gestational age, Neutropenia |
ORPHA:93357 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Slender build, Cachexia, Weight loss, Elevated c... |
OMIM:603041 |
| Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Behçet Disease |
|
Splenomegaly, Orchitis, Weight loss, Pancreatitis, Lymphadenopathy |
ORPHA:117 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Weight loss, Failure to thrive |
ORPHA:37 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Abnormal hair morphology, Autoimmune hemolytic anemia, Low anterior hairline, Cac... |
ORPHA:647 |
| Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Abnormal dental enamel morphology, Neoplasm of the thymus... |
ORPHA:744 |
| Choreoacanthocytosis |
|
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev... |
ORPHA:2388 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Weight loss, Elevated circulating alpha-fetoprotein concentration |
ORPHA:420741 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Umbilical hernia, Abnormal eyebrow morphology, Decreased testicular... |
ORPHA:800 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Dermatomyositis |
|
Cellulitis, Alopecia, Chondrocalcinosis, Abnormal eosinophil morphology, Elevated circulating hep... |
ORPHA:221 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Increased circulating surfactant protein level, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating aspar... |
ORPHA:99829 |
| Postinfectious Vasculitis |
|
Elevated haptoglobin level, Orchitis, Abnormal circulating protein concentration, Weight loss, El... |
ORPHA:48435 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia |
ORPHA:3217 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Fasciitis, Pancytopenia, Nail ... |
ORPHA:99921 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive |
ORPHA:206436 |
| Juvenile Dermatomyositis |
|
Alopecia, Elevated circulating creatine kinase concentration, Weight loss, Calcinosis, Elevated c... |
ORPHA:93672 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Slender build, Large for gestational age, Broad eyebrow, Neonatal hypoglycemia |
ORPHA:457359 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Trisomy 18 |
|
Camptodactyly of finger, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Cachexia, Ompha... |
ORPHA:3380 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy... |
OMIM:612954 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Mildly elevated creatine kinase |
OMIM:607459 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... |
ORPHA:740 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive |
ORPHA:1018 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Sotos Syndrome |
|
Ankle flexion contracture, Umbilical hernia, Sparse anterior scalp hair, Inguinal hernia, Hip con... |
ORPHA:821 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Chorioretinal scar, Elevated circulating creatinine concentration, Reduced hem... |
ORPHA:91500 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Sparse scalp hair |
ORPHA:808 |
| Reactive Arthritis |
|
Dystrophic fingernails, Weight loss, Enthesitis |
ORPHA:29207 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss, Elevated circulating creatine kinase concentration |
OMIM:164310 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Abnormality of the thyroid gland |
ORPHA:1969 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
| Goodpasture Syndrome |
|
Anemia, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Cryptorchidism, Broad eyebrow, Camptodactyly, Asplenia, Flexion contracture, H... |
ORPHA:261537 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Mowat-Wilson Syndrome |
|
Horizontal eyebrow, Cryptorchidism, Decreased body weight, Broad eyebrow, Camptodactyly, Asplenia... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Highly arched eyebrow, Failure to thrive, Cryptorchidism, Broad eyebrow, Camptodactyly, Asplenia,... |
ORPHA:261552 |
| Marfan Syndrome |
|
Slender build, Cachexia, Inguinal hernia |
ORPHA:558 |
| Norrie Disease |
|
Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Diabetes mellitus |
ORPHA:649 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Slender build, Cachexia |
ORPHA:828 |
| Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
