Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Mahvash Disease |
|
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... |
OMIM:619290 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... |
OMIM:615897 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hypogonadism, Congenital hepatic... |
ORPHA:79230 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fasting hypogly... |
ORPHA:263455 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... |
OMIM:618858 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism |
ORPHA:2849 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... |
OMIM:606176 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Pancreatic islet-cell hyperplasi... |
OMIM:246200 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Lymp... |
OMIM:300853 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Huntington Disease |
|
Gliosis |
OMIM:143100 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis |
OMIM:300857 |
Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus |
OMIM:612782 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis |
OMIM:236792 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Agenesis of corpus callosum, Gliosis |
ORPHA:168486 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Gliosis |
OMIM:615095 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... |
OMIM:208900 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating leptin concentration, Enlarged polycystic ovaries, Insulin... |
ORPHA:2298 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism |
ORPHA:79319 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, C... |
OMIM:612541 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... |
ORPHA:277 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Cerebellar gliosis, Lateral ventricle dilatation, Gliosi... |
ORPHA:79243 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Lymphoma, Neoplasm, Decreased circulating IgG level, Partial absence of... |
OMIM:240500 |
Hemimegalencephaly |
|
Gliosis |
ORPHA:99802 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gliosis |
OMIM:213200 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis |
OMIM:221820 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Patent duc... |
ORPHA:84064 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... |
ORPHA:79086 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Gliosis |
OMIM:221770 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis |
OMIM:604484 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Lissencephaly, X-Linked, 2 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:300215 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia |
OMIM:615935 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis |
OMIM:618369 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Type I diabetes... |
ORPHA:436252 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis |
OMIM:105550 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Astrocytosis |
ORPHA:204 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Gliosis |
OMIM:603896 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion |
OMIM:183350 |
Spinocerebellar Ataxia 17 |
|
Gliosis |
OMIM:607136 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Alstrom Syndrome |
|
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... |
OMIM:203800 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:214150 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, ... |
ORPHA:391673 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... |
ORPHA:93111 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Gliosis |
ORPHA:275872 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia,... |
OMIM:609069 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis |
OMIM:612936 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... |
ORPHA:769 |
Leigh Syndrome |
|
Gliosis |
OMIM:256000 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Gliosis |
OMIM:616239 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis |
OMIM:300957 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Huntington Disease-Like 1 |
|
Gliosis |
ORPHA:157941 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gliosis |
ORPHA:457240 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Abnormally l... |
OMIM:619374 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Increased circulating IgA level, Increased proportion of HLA DR+ T cells, Neutropen... |
OMIM:601859 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Gliosis |
OMIM:604377 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation, Gliosis |
OMIM:607485 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis |
OMIM:256600 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th... |
ORPHA:861 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Gliosis |
OMIM:619847 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Hepatic steatosis |
OMIM:613327 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis |
OMIM:169500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Thrombocytop... |
OMIM:188400 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia |
ORPHA:134 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia |
OMIM:175700 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis |
OMIM:277470 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Roifman Syndrome |
|
Decreased T cell activation, Hypogonadotropic hypogonadism, Eosinophilia, Decreased circulating a... |
ORPHA:353298 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hypoplasia of th... |
ORPHA:1896 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis |
OMIM:614946 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Cryptorchidism, Splenomegaly, Pa... |
ORPHA:567 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Familial Acute Necrotizing Encephalopathy |
|
Gliosis |
ORPHA:88619 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... |
ORPHA:508 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess |
OMIM:241600 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Machado-Joseph Disease |
|
Gliosis |
OMIM:109150 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Glycosuria, Abnor... |
ORPHA:2088 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Increased circulating IgA level, Increased proportion of HLA DR+ T cells, Neutropen... |
OMIM:603909 |
Progressive Supranuclear Palsy |
|
Gliosis |
ORPHA:683 |
Short Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Insulin resistance, Ovarian cyst,... |
OMIM:269880 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Gliosis |
ORPHA:280210 |
Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Gliosis |
ORPHA:3240 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, He... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Purine Nucleoside Phosphorylase Deficiency |
|
Impaired T cell function, Lymphoma, Neutropenia in presence of anti-neutropil antibodies, Decreas... |
OMIM:613179 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia in presence of anti-neutropil antibodies, Lack of T cell func... |
ORPHA:572 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
ORPHA:26791 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Gliosis |
OMIM:617193 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis |
OMIM:168601 |
Leigh Syndrome |
|
Agenesis of corpus callosum, Gliosis |
ORPHA:506 |
Monosomy 22 |
|
Hyperhidrosis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Impaired T cell function, Abnormal lymphocyte... |
ORPHA:1830 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia |
OMIM:615812 |
Mannosidosis, Alpha B, Lysosomal |
|
Gliosis |
OMIM:248500 |
Perlman Syndrome |
|
Cryptorchidism, Hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gliosis |
OMIM:618321 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Impaired T cell function |
OMIM:201100 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistan... |
ORPHA:79474 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Decreased specific anti-polysaccharide antibody level, Impaired T cell ... |
OMIM:614576 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Truncus Arteriosus |
|
Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Absent circulating ... |
OMIM:307200 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone... |
OMIM:264090 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... |
OMIM:301000 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis |
OMIM:618222 |
Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Cryptorchidism, Patent ductus arteriosus, Recurrent... |
ORPHA:79324 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Tay-Sachs Disease |
|
Gliosis |
ORPHA:845 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis |
OMIM:252160 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis |
ORPHA:411602 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis |
OMIM:252150 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... |
OMIM:618131 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... |
ORPHA:83617 |
D-Bifunctional Protein Deficiency |
|
Gliosis |
OMIM:261515 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Gliosis |
OMIM:300868 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Impaired T cell function |
ORPHA:30 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Patent ductus arteriosus, Biliary atres... |
OMIM:600001 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Gliosis |
OMIM:301072 |
Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Gliosis |
OMIM:615873 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Biliary hyperplasia, Abnormal circulating thyroid hormone concentration, Jaundice, ... |
OMIM:619991 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Septate vagina, Uterus didelphys, Parathyro... |
ORPHA:2237 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgG2 level, Decreased T cell ... |
OMIM:242840 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Gliosis, Astrocytosis |
OMIM:203700 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis |
ORPHA:404454 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglyce... |
OMIM:227810 |
Supranuclear Palsy, Progressive, 1 |
|
Gliosis, Astrocytosis |
OMIM:601104 |
Congenital Disorder Of Deglycosylation 1 |
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Gliosis |
OMIM:615273 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Hypoglycemia, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-... |
ORPHA:373 |
Thyrotoxic Periodic Paralysis |
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Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
Cerebrotendinous Xanthomatosis |
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Gliosis |
ORPHA:909 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Cryptorchidism, Impaired T cell function |
OMIM:192430 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
Supranuclear Palsy, Progressive, 2 |
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Gliosis |
OMIM:609454 |
Greenberg Dysplasia |
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Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly |
OMIM:215140 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Gliosis |
ORPHA:268261 |
Gabriele-De Vries Syndrome |
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Agenesis of corpus callosum, Gliosis |
ORPHA:506358 |
Pyruvate Carboxylase Deficiency |
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Hepatomegaly, Hyperglycemia, Failure to thrive, Hypoglycemia |
ORPHA:3008 |
Cockayne Syndrome |
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Gliosis |
ORPHA:191 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Gliosis |
OMIM:617403 |
Diets-Jongmans Syndrome |
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Gliosis |
OMIM:618846 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Obesity, Hypergl... |
ORPHA:444077 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Partial agenesis of the corpus callosum, Gliosis |
OMIM:220111 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Progeroid Short Stature With Pigmented Nevi |
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Chordee, Hypospadias, Impaired T cell function, Premature ovarian insufficiency |
OMIM:176690 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Scorpion Envenomation |
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Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... |
ORPHA:2968 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level, Enlarged lacrimal glands,... |
OMIM:181000 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-cell hyperplas... |
OMIM:312870 |