Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Malaria |
|
Anemia, Hyperbilirubinemia, Thrombocytopenia, Gait imbalance, Elevated circulating C-reactive pro... |
ORPHA:673 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ... |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Hyperinsulinemic hypoglycem... |
ORPHA:263458 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hypoketotic hypoglyc... |
ORPHA:79299 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... |
ORPHA:324575 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of... |
ORPHA:232 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatom... |
OMIM:616860 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia,... |
ORPHA:280356 |
Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314811 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... |
ORPHA:71526 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... |
OMIM:262400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Insulin resistance, ... |
ORPHA:79085 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperlipidemia, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:411593 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased... |
OMIM:617885 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... |
ORPHA:276580 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Attention deficit hyperactivity disorder, Hyperinsulinemia, Hypoglycemic seizures, Elevated circu... |
OMIM:620211 |
Lipe-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... |
ORPHA:435660 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperi... |
ORPHA:35878 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... |
ORPHA:171706 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Cidec-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hypertriglyceridemia, Hyperlipidemia,... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Hypertriglyceridemia, Decreased serum leptin, Diabetic ketoacidosis, Decreased adi... |
OMIM:615238 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hyperin... |
ORPHA:276575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperi... |
ORPHA:276608 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Increased CSF protein concentration, Acute lymphobl... |
ORPHA:158057 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Abnormal macular morphology, Bone-marrow foam cells, Ane... |
OMIM:607616 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatospl... |
OMIM:613673 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Osteoporosis, Macrocytic anemia, Failure to thrive, Increased mean corpuscular vol... |
ORPHA:2169 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... |
OMIM:619868 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, React... |
ORPHA:276556 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Extramedullary hematopoiesis, Anemia, Ventricular septal defect, Incre... |
OMIM:617021 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia |
OMIM:620195 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... |
ORPHA:98870 |
Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Retinal degeneratio... |
OMIM:615558 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... |
OMIM:262700 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, ... |
OMIM:604367 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy |
ORPHA:79084 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Ataxia, Hepatomegaly, Increased mean corpuscular volume, Decreased CSF 5-me... |
OMIM:613839 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hydrocephalus, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to th... |
OMIM:269920 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Hydrocephalus, Failure to thrive |
OMIM:129850 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... |
OMIM:267700 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concen... |
OMIM:620010 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Type I diabetes mellitus, Pancytopenia, T-cell acute lymphobla... |
OMIM:620044 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Ataxia, Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Pigmentary reti... |
ORPHA:96180 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertrigl... |
ORPHA:66628 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia |
OMIM:619256 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Ataxia, Steatorrhea, Osteoporosis, Hepatomegaly... |
OMIM:266510 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification, Abnormal cardiac sep... |
ORPHA:3319 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia |
OMIM:222100 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Hepatomeg... |
OMIM:224120 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Retinal atrophy, Anemia, Epiretinal membrane, Decreased mean corpus... |
OMIM:616959 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertrigl... |
ORPHA:179494 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Diamond-Blackfan Anemia 6 |
|
Tracheomalacia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Persistence... |
OMIM:612561 |
Insulinoma |
|
Polyphagia, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hypoglycemia, A... |
ORPHA:97279 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, Erythroid h... |
OMIM:615631 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... |
OMIM:616033 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubi... |
OMIM:185000 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Ataxia, Decreased hemoglobin concentration, Hyperbilirubinemia... |
ORPHA:713 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Amelogenesis imperfecta, Hepatomegaly, Elevated circulating creatine kinase concent... |
OMIM:614727 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... |
OMIM:206200 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Increased circula... |
OMIM:603552 |
Shwachman-Diamond Syndrome |
|
Diabetes mellitus, Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leuk... |
ORPHA:811 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... |
OMIM:231200 |
Abetalipoproteinemia |
|
Steppage gait, Hepatomegaly, Abnormal circulating apolipoprotein concentration, Rod-cone dystroph... |
ORPHA:14 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Umb... |
OMIM:169400 |
Bone Marrow Failure Syndrome 3 |
|
Retinal dystrophy, Reduced bone mineral density, Aplastic anemia, Anemia, Persistence of hemoglob... |
OMIM:617052 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Hydrocephalus |
OMIM:209970 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased CSF protein ... |
OMIM:603553 |
Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platele... |
ORPHA:182050 |
Slc35A1-Cdg |
|
Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis, Neutropenia |
ORPHA:238459 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Type II diabetes mellitus, Insulin resistanc... |
ORPHA:181393 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Spastic ataxia, Increased mean corpuscular volume, ... |
OMIM:277410 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate producti... |
ORPHA:86839 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... |
OMIM:259720 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration, Hepatomegaly |
OMIM:619874 |
Congenital Toxoplasmosis |
|
Anemia, Hydrocephalus, Failure to thrive in infancy, Hepatomegaly, Ventriculomegaly, Abnormality ... |
ORPHA:858 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hydrocephalus |
OMIM:166990 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Ataxia, Cone/cone-rod dystrophy, Ventricular septal defect, Atrial septal... |
OMIM:249270 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... |
OMIM:617443 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Increased CSF interferon alpha, CSF pleocytos... |
OMIM:615010 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Rickets, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume... |
OMIM:611590 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatome... |
OMIM:615234 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Takenouchi-Kosaki Syndrome |
|
Camptodactyly, Inguinal hernia, Pulmonic stenosis, Ataxia, Abnormal cardiac septum morphology, Ve... |
OMIM:616737 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia... |
OMIM:616278 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Dandy-Walker malformation, Orbital craniosynostosis, Hydrocephalus |
ORPHA:1538 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipoatrophy, H... |
ORPHA:2457 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Pathologic fracture, Myelomeningocele, Osteoporosis, Aca... |
OMIM:607330 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean... |
ORPHA:231226 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... |
OMIM:613101 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Hypocholest... |
OMIM:607765 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Ventriculomegaly |
ORPHA:1980 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Dia... |
ORPHA:231222 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Camptodactyly, Hepatomegaly, Failure to thrive, Increased CSF lactate, Flexion cont... |
OMIM:604273 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Chylomicron Retention Disease |
|
Steatorrhea, Acanthocytosis, Failure to thrive, Hypertriglyceridemia, Retinopathy, Hypocholestero... |
ORPHA:71 |
Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior, Delayed puberty, Diabetes mellitus, Decreased response to g... |
OMIM:614963 |
Pineocytoma |
|
Increased CSF protein concentration, Episodic ataxia, Difficulty walking, Hydrocephalus |
ORPHA:251912 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Hydrocephalus, Hep... |
OMIM:259700 |
Hereditary Spherocytosis |
|
Reticulocytosis, Gout, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concen... |
ORPHA:822 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Anemia, Decreased CSF homovanillic acid concentration, Failure to thrive, Hypoglyc... |
OMIM:610090 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hyperinsulinemi... |
OMIM:151660 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Ataxia, Steatorrhea, Cardiomyopathy, Hepatomegaly, Osteopenia, Failure to thrive, A... |
OMIM:212065 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Anemia, Choreoathetosis, Cardiomyopathy, Hepatomegaly, Failure to thrive, Thrombo... |
ORPHA:79312 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Hydrocephalus |
OMIM:607091 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Atrial septal d... |
ORPHA:1667 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Camptodactyly, Anemia, Left ventricular hypertrophy, Failure to thrive in infancy, Lateral ventri... |
OMIM:611209 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Glycogen Storage Disease Vii |
|
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Gout, Reduced erythrocyte 2,3-diphosphoglycerat... |
OMIM:232800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope... |
OMIM:153670 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Osteoporosis, Macr... |
OMIM:612562 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... |
OMIM:262600 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Failure to thrive, Thrombocytopenia, Osteopetrosis, Optic atrophy, Splenome... |
OMIM:615085 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Failure to thrive in infancy, Knee flexion contracture, ... |
OMIM:618156 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Ataxia, Anemia, Cardiomyopathy, Hepatomegaly, Macrocytic anemia, Thro... |
ORPHA:27 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Hyperinsulinemia |
ORPHA:791 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Goiter, Graves disease, Hyperactivity, Increased circulating free T3, Decreased thyro... |
OMIM:275000 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventricular septal defect, Optic nerve hypoplasia, Ventriculomegaly, Increased mean... |
ORPHA:261250 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypoargininemia, Unsteady gait, Hypoglycemia, Abnorm... |
ORPHA:79096 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Reticulocytosis, Anemia, Optic disc pallor, Hepatomegaly, Thrombo... |
OMIM:611490 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Umbilical hernia, Hyperglycemia, Transient neonatal diabetes m... |
ORPHA:99886 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Hepatomegaly,... |
OMIM:266200 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Extramedullary hematopoiesis, Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, ... |
ORPHA:79303 |
Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
Epilepsy, Pyridoxine-Dependent |
|
Elevated circulating alpha-aminoadipic semialdehyde concentration, Hydrocephalus |
OMIM:266100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:613155 |
Hereditary Elliptocytosis |
|
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... |
ORPHA:288 |
Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia |
OMIM:619302 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Adrenal hypoplasia, Decreased circulating cortisol level, Decreased response to growt... |
OMIM:609734 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Hydrocephalus, Th... |
OMIM:259710 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... |
OMIM:235700 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Ataxia-Pancytopenia Syndrome |
|
Unsteady gait, Ataxia, Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomon... |
OMIM:159550 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Mini... |
ORPHA:280365 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Ataxia, Osteoporosis, Lymphopenia, Increased mean corpuscula... |
OMIM:127550 |
Alg12-Cdg |
|
Camptodactyly, Abnormal adipose tissue morphology, Recurrent hypoglycemia, Retinal detachment, Bi... |
ORPHA:79324 |
Temple Syndrome |
|
Polyphagia, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test, Type I... |
ORPHA:254516 |
Atypical Teratoid Rhabdoid Tumor |
|
Ataxia, Limitation of joint mobility, Hydrocephalus |
ORPHA:99966 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Thrombo... |
ORPHA:49827 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Choreoathetosis, Neutropenia |
ORPHA:289916 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hyp... |
OMIM:222470 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Hydrocephalus, Anemia, Osteoarthritis, Arthritis, Hypocalcemia, Osteo... |
ORPHA:53 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Type II diabetes mellitus, Keloids, Hyperinsulinemia |
ORPHA:3085 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Hypermethioninemia, Elevated circulating creati... |
OMIM:614300 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis |
ORPHA:2760 |
Beta-Thalassemia |
|
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Throm... |
ORPHA:848 |
Pyruvate Carboxylase Deficiency |
|
Decreased CSF glutamine concentration, Hyperalaninemia, Hepatomegaly, Ventriculomegaly, Hypernatr... |
ORPHA:3008 |
Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, H... |
OMIM:608600 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, CSF lymphocytic pleiocytosis, Thrombocytopenia |
OMIM:610329 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Atrial septal defect, B... |
ORPHA:101028 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Thrombocytopenia, Hypoglycemia, Failure to thrive |
ORPHA:67048 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Agitation, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Hyperinsulinemia, Hyperg... |
OMIM:608612 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Reduced haptoglobin level, Osteolysis, Reticulocytosis, Leukopenia, Hemolytic anemi... |
ORPHA:79277 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Steppage gait, Hepatomegaly, Hypermanganesemia, Unconjugated hyperbilirubinemia, In... |
OMIM:613280 |
Bdv Syndrome |
|
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... |
OMIM:619326 |
Propionic Acidemia |
|
Hyperammonemia, Anemia, Cardiomyopathy, Osteoporosis, Hepatomegaly, Failure to thrive, Thrombocyt... |
OMIM:606054 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Failure to thrive, Hyperbilir... |
OMIM:251880 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... |
ORPHA:300298 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Hypercholesterolemia, Generalized lipodystrophy, Diabetes mell... |
OMIM:612526 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Hepatomegaly, Failure to thriv... |
OMIM:615285 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Small for gestational age, Inguinal hernia, Ventricular septal defect, ... |
ORPHA:84064 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Failure to thrive, Thrombocytopenia, Pancytopenia, Ele... |
OMIM:616050 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Fanconi-Bickel Syndrome |
|
Rickets, Fasting hypoglycemia, Hypophosphatemia, Glycosuria, Hypouricemia, Postprandial hyperglyc... |
OMIM:227810 |
Methylmalonic Acidemia With Homocystinuria |
|
Retinopathy, Gait disturbance, Hydrocephalus, Failure to thrive |
ORPHA:26 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Ataxia, Folate-responsive megaloblastic anemia, Failure to thrive, Athetosis, Thrombo... |
OMIM:229050 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Perlman Syndrome |
|
Femoral hernia, Inguinal hernia, Hyperinsulinemia |
ORPHA:2849 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
Riboflavin Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:615026 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Osteopenia, Splenomegaly |
OMIM:211600 |
Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Hyperinsuli... |
ORPHA:528 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Hydrocephalus, Hepatomegaly, Ventriculomegaly, CSF lymphocytic pleiocytosis, ... |
OMIM:610333 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618838 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... |
OMIM:300835 |
Glucocorticoid Deficiency 1 |
|
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, R... |
OMIM:202200 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Atrial septal defect, Hydrocephalus, Elevated circulating long... |
OMIM:614886 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Diabetes mellitus, Sideroblastic anemia, Thrombocytopenia, Optic atrophy, N... |
OMIM:598500 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Ataxia, Hydrocephalus |
OMIM:618709 |
Lipoyltransferase 1 Deficiency |
|
Ventriculomegaly, Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
Preeclampsia |
|
Small for gestational age, Thrombocytopenia, Type I diabetes mellitus, Elevated circulating creat... |
ORPHA:275555 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Small for gestational age, Anemia, Steatorrhea, Hepatomegaly, Re... |
OMIM:557000 |
Overlap Myositis |
|
Abnormal circulating lipid concentration, Leukopenia, Difficulty walking, Diabetes mellitus, Abno... |
ORPHA:206572 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreas... |
ORPHA:231214 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Alg8-Cdg |
|
Small for gestational age, Camptodactyly, Ataxia, Anemia, Abnormality of subcutaneous fat tissue,... |
ORPHA:79325 |
Donohue Syndrome |
|
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Pancreatic islet-cell hype... |
OMIM:246200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Ventricular septal defect, Atrial septal defect, Conjugated hyperbilir... |
OMIM:208085 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Cardiomyopathy, Ventriculomegaly, Athetosis, Thrombocytopenia, Optic atrophy, Rod-cone dy... |
OMIM:617710 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... |
ORPHA:1227 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, C... |
OMIM:614736 |
Developmental And Epileptic Encephalopathy 36 |
|
Flexion contracture, Optic atrophy, Hepatomegaly, Hydrocephalus |
OMIM:300884 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Insulin resistance, ... |
ORPHA:73272 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Atrial septal defect, Failure to thrive, Patent foramen ovale, Hypocho... |
OMIM:610883 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... |
OMIM:613986 |
Estrogen Resistance |
|
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Increased s... |
OMIM:615363 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Elbow flexion contracture, Hydrocephalus |
OMIM:619470 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... |
ORPHA:453533 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Failure to thrive, Thrombocytopenia... |
OMIM:226990 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Pancytopenia,... |
ORPHA:507 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis, Osteolysis involving bones of the lower limbs, Abnormal heart morphology, Hyperbiliru... |
ORPHA:464321 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Inability to walk, Hemolytic anemia, Ataxia, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperka... |
OMIM:608885 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Camptodactyly, Inguinal hernia, Total anomalous pulmonary venous return, Abnormal heart morpholog... |
ORPHA:487796 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Normocytic anemia, Anemia, Hepatomegaly, Elevated circulating creatine... |
OMIM:611881 |
Mody |
|
Abnormal circulating insulin concentration, Neonatal hypoglycemia, Glycosuria, Abnormal oral gluc... |
ORPHA:552 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypoglycemia |
OMIM:610006 |
Galactokinase Deficiency |
|
Hypoglycemia, Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Juvenile rheumatoid arthritis, Hepatomegaly, Hypertriglyceridemia, Abno... |
ORPHA:158061 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism |
OMIM:617119 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Cardiomyopathy, Hepatomegaly, Failure to thri... |
OMIM:251000 |
Orotic Aciduria |
|
Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi... |
OMIM:258900 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Methylmalonic acidemia, Atrial septal defect, Failure to thrive, Thrombocytopeni... |
OMIM:614857 |
Temple Syndrome |
|
Small for gestational age, Overweight, Hydrocephalus, Truncal obesity, Hypertriglyceridemia, Join... |
OMIM:616222 |
Bile Acid Conjugation Defect 1 |
|
Rickets, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia, Gait disturbance |
OMIM:301094 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Leukopenia, Pure red cell aplasia, Ventricular septal defect, Atrial s... |
ORPHA:124 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Anemia, Atrial septal defect, Hepatomegaly, Abnormality of retinal pig... |
ORPHA:290 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss |
ORPHA:517 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
Cog4-Cdg |
|
Hepatosplenomegaly, Ataxia, Failure to thrive in infancy, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia |
ORPHA:295 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Hypoglycemia, Decreased plasma free carnitine, Enlarged kidney, Knee flexion cont... |
OMIM:608836 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Mehmo Syndrome |
|
Delayed puberty, Male hypogonadism, Decreased response to growth hormone stimulation test, Hypogl... |
OMIM:300148 |
Wilson Disease |
|
Chondrocalcinosis, Hemolytic anemia, Anemia, Hypouricemia, Glycosuria, Osteoporosis, Hepatomegaly... |
OMIM:277900 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... |
OMIM:618858 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Ataxia, Hyperproteinemia, Hepatomegaly, Hypertriglyceridemia, Abnormal ... |
ORPHA:158048 |
Fumarase Deficiency |
|
Polycythemia, Perimembranous ventricular septal defect, Ventriculomegaly, Hyperbilirubinemia, Fai... |
OMIM:606812 |
Nasu-Hakola Disease |
|
Reduced bone mineral density, Abnormal adipose tissue morphology, Hydrocephalus, Ventriculomegaly... |
ORPHA:2770 |
Tangier Disease |
|
Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyce... |
ORPHA:31150 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F, Reticulocytopenia, ... |
OMIM:105650 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Camptodactyly, Lipodystrophy, Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hy... |
OMIM:248370 |
Fried Syndrome |
|
Abnormal optic nerve morphology, Gait disturbance, Hydrocephalus |
ORPHA:85335 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lipodystrophy, Anemia, Hepatomegaly, Lymphopenia, Arthritis, Failure to thrive, Hypertriglyceride... |
OMIM:617591 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Enamel hypoplasia, ... |
OMIM:614576 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Lipodystrophy, Hemophagocytosis, Stiff interphalangeal joints, Limited should... |
ORPHA:39812 |
Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Decreased circulating ACT... |
ORPHA:95619 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Gait disturbance, Hydrocephalus, Ventriculomegaly, Dilated cardiomyopath... |
ORPHA:272 |
Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Weight loss, Thrombocytopeni... |
ORPHA:88673 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia |
ORPHA:2123 |
X-Linked Acrogigantism |
|
Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ... |
ORPHA:300373 |
Aceruloplasminemia |
|
Ataxia, Anemia, Diabetes mellitus, Retinal degeneration, Increased circulating ferritin concentra... |
OMIM:604290 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia, Lipodystrophy, Diabetes mellitus, Umbilical hernia, Hyperinsulinemia, Reduced intraab... |
OMIM:608594 |
1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Tetralogy of Fallot, Hydrocephalus, Failure to thrive |
ORPHA:250994 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Osteoarthritis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increa... |
ORPHA:2298 |
Mevalonic Aciduria |
|
Hepatosplenomegaly, Leukocytosis, Progressive cerebellar ataxia, Ataxia, Anemia, Normocytic hypop... |
OMIM:610377 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Griscelli Syndrome |
|
Encephalocele, Abnormal circulating lipid concentration, Leukopenia, Ataxia, Hydrocephalus, Abnor... |
ORPHA:381 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis, Dandy-Walker malformation, Hydrocephalus |
OMIM:123155 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocytopenia, Elevated... |
ORPHA:160 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... |
OMIM:606176 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Restlessness, Agitation |
OMIM:300438 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteoporosis, Hepatomegaly, Osteopenia, Failure to thrive, Hyperlipidemia, Hypertrophic cardiomyo... |
ORPHA:369 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Ventricular septal defect, Hepatomegaly, Conjugated hyperbilirubinemia, Right ventric... |
OMIM:613404 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Retinal detachment, Elevated circulating creatine ki... |
OMIM:613153 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Ataxia, Diabetes mellitus, Pigmentary retinopathy, Cardiomyopathy, Siderobl... |
OMIM:222300 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Diabetes mellitus, Increased blood urea nitrogen, Failure to t... |
OMIM:613845 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hyperammonemia, Elevated circulating fumarate concentration, Atrial se... |
OMIM:615160 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Anemia, Amelogenesis imperfecta, Osteopenia, Failure to thri... |
OMIM:617475 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Pancytopenia,... |
OMIM:308240 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Hyperammonemia, Elevated circulating acylcarnitine concentration, Nonketotic hypoglycemia, Failur... |
ORPHA:99901 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Hypercholesterolemia, Bo... |
OMIM:278000 |
Wt Limb-Blood Syndrome |
|
Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia, Radioulnar s... |
OMIM:194350 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
Zika Virus Disease |
|
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... |
ORPHA:448237 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Absence of secondary sex characteristics, Increased circul... |
ORPHA:785 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypergo... |
OMIM:606407 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration, Hyperglycemia, Type ... |
OMIM:520000 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Muscle-Eye-Brain Disease |
|
Gait disturbance, Hydrocephalus, Meningocele, Holoprosencephaly, Elevated circulating creatine ki... |
ORPHA:588 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hyperammonemia, Megaloblastic anemia, Methylmalonic acidemia, Hydrocephalus, Elevated circulating... |
ORPHA:79282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Ventricular septal defect, Papilledema, Elevated circulating creatine ... |
OMIM:618775 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hyperalaninemia, Hepatomegaly, Ventri... |
ORPHA:348 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Primary adrenal ins... |
OMIM:617872 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Lipodystrophy, Increased CD4:CD8 ratio, Failure to thrive... |
OMIM:618048 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Decreased body weight, Splenomegaly |
OMIM:231000 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Ataxia, Spontaneous hemolytic crises, Communicating hydrocephalus, Conjugated... |
ORPHA:168577 |
Glycogen Storage Disease Iii |
|
Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular hyp... |
OMIM:232400 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia |
ORPHA:48431 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia, Gait disturbance |
OMIM:604484 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Ventriculomegaly, Thrombocytopenia |
OMIM:618624 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age, Hypoglycemia |
OMIM:619075 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition |
OMIM:172700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Anemia, Hepatomegaly, Perimembranous ventricular septal defect, Failure to thrive,... |
OMIM:608104 |
Systemic Lupus Erythematosus 17 |
|
Optic neuritis, Leukopenia, Autoimmune thrombocytopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Cystic Echinococcosis |
|
Hepatomegaly, Abnormal heart morphology, Eosinophilia, Hyperbilirubinemia, Bone cyst, Splenic cys... |
ORPHA:400 |
Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotrop... |
OMIM:201400 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
Gaucher Disease |
|
Hepatomegaly, Osteoarthritis, Ventriculomegaly, Cherry red spot of the macula, Abnormal myocardiu... |
ORPHA:355 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia, Lipodystrophy, Umbilical hernia, Hyperinsulinemia, Reduced intraabdominal adipose tis... |
OMIM:269700 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Impaired glucose tolerance, Hydrocephalus, Ventricular septal defect, Hepatomegaly, Ventriculomeg... |
OMIM:615630 |
Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Leukocytosis, Leukopenia, Hyperammonemia, Anemia, Ca... |
ORPHA:292 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus |
OMIM:618856 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Dk Phocomelia Syndrome |
|
Encephalocele, Thrombocytopenia |
OMIM:223340 |
Acquired Generalized Lipodystrophy |
|
Generalized lipodystrophy, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Insulin-re... |
ORPHA:79086 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymph... |
OMIM:617718 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hydrocephalus, Left ventricular hypertrophy, Hyperglycorrhachia, Hyperglycemia, Inc... |
ORPHA:90065 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Isolated Agammaglobulinemia |
|
Anemia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Arthritis, Failure to thrive,... |
ORPHA:229717 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Hyperglycemia |
OMIM:615986 |
Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, CSF lymphocytic pleiocytosis, Thrombocytopenia |
OMIM:612952 |
Rhabdoid Tumor |
|
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Congenital Hydrocephalus |
|
Colpocephaly, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Optic atrophy, Macular ... |
ORPHA:2185 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia, Restlessness |
ORPHA:3006 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hiatus hernia, Hernia |
ORPHA:101009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, H... |
OMIM:615181 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Colpocephaly, Elevated circulating phytanic acid concentration, Small for ges... |
OMIM:614866 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinem... |
OMIM:617049 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Babesiosis |
|
Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Limitation of joint mobility, Splen... |
ORPHA:108 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Increased circula... |
OMIM:300942 |
Mirage Syndrome |
|
Radial club hand, Hypoplastic spleen, Leukopenia, Anemia, Hydrocephalus, Lymphopenia, Hyperkalemi... |
OMIM:617053 |
Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus, Autoimmune thrombocytopenia, Failure to thriv... |
OMIM:245200 |
Schaaf-Yang Syndrome |
|
Polyphagia, Camptodactyly, Arthrogryposis multiplex congenita, Hypogonadism, Flexion contracture,... |
OMIM:615547 |
Cernunnos-Xlf Deficiency |
|