| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Ab... |
ORPHA:552 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... |
OMIM:618157 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity, Increas... |
ORPHA:71529 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Small for gestational age, Diabetes mellitus |
OMIM:619278 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia, Tall stature |
OMIM:618406 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... |
OMIM:221750 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Growth Hormone Deficiency, Isolated Partial |
|
Decreased response to growth hormone stimulation test, Small pituitary gland |
OMIM:615925 |
| Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity |
OMIM:617885 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, G... |
ORPHA:2089 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... |
OMIM:606528 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Familial Renal Glucosuria |
|
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria |
ORPHA:69076 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Hypergon... |
OMIM:614963 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... |
ORPHA:35878 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
| Cataract 47 |
|
Glycosuria |
OMIM:612018 |
| Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Diabetes in... |
OMIM:182230 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria... |
OMIM:616026 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria |
OMIM:606824 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Small pituitary gland |
OMIM:614880 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... |
OMIM:300067 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary |
OMIM:613986 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Culler-Jones Syndrome |
|
Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism |
OMIM:615989 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance |
ORPHA:2398 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Glycosur... |
ORPHA:2088 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... |
ORPHA:157954 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
| Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
| Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Neonatal death, Polymicrog... |
OMIM:619602 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism, Obesity |
OMIM:615987 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Insulin resistance, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland |
OMIM:612702 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:616192 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| Amenorrhea-Galactorrhea Syndrome |
|
Pituitary adenoma |
OMIM:104600 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... |
ORPHA:101029 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... |
OMIM:611603 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemic rickets, Hypophosphatemia, Bica... |
ORPHA:3337 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Band Heterotopia |
|
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Nephrop... |
OMIM:613404 |
| Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
| Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Generali... |
OMIM:227810 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Pituitary Stalk Interruption Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Ectopic poste... |
ORPHA:95496 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
| Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Failure to thrive, Elevated hemoglobin A1c, Glyco... |
OMIM:616539 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Hypogonadism |
OMIM:615983 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Hypogonadism |
ORPHA:85274 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Hyperglycemia |
OMIM:520000 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Diabetes mellitus |
OMIM:277700 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Gray matter heterotopia, Pol... |
OMIM:604213 |
| Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity |
ORPHA:791 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
| Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Small for gestationa... |
ORPHA:79237 |
| Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Hypo... |
OMIM:615993 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia |
ORPHA:411515 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... |
ORPHA:436271 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin ... |
OMIM:612526 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
| Juvenile Nephropathic Cystinosis |
|
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Sta... |
ORPHA:411634 |
| Isolated Exencephaly |
|
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia |
ORPHA:563612 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemia,... |
OMIM:231680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hyperinsulinemia, Type II diabetes mellitus, Tall stature, Splenomegaly, Elevate... |
OMIM:269700 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty |
ORPHA:217377 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant diabetes mellitus... |
ORPHA:79085 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
| Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... |
ORPHA:759 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
| Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria |
OMIM:222730 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... |
OMIM:220110 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Septo-Optic Dysplasia Spectrum |
|
Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Cryptorchidism, Anterior pitui... |
ORPHA:3157 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, Hypogonadism |
OMIM:615996 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... |
ORPHA:226307 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis |
OMIM:261650 |
| Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism,... |
OMIM:615547 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
| Bardet-Biedl Syndrome 2 |
|
Obesity, Hypogonadism, Diabetes mellitus |
OMIM:615981 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Glucose intolerance, Unilateral renal agenesis, Maturity-onset diabetes of the y... |
OMIM:137920 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Abnormal motor neuron morphology |
OMIM:613724 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Hernia of the abdominal wall |
ORPHA:3055 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... |
ORPHA:6 |
| Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
| Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia |
ORPHA:1827 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... |
OMIM:300942 |
| Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glyco... |
ORPHA:411629 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... |
ORPHA:54595 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia |
OMIM:619737 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
| Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria... |
OMIM:229600 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... |
ORPHA:98754 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus, Ob... |
OMIM:610628 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism |
OMIM:603373 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... |
ORPHA:98793 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Mehmo Syndrome |
|
Obesity, Hypoplasia of penis, Micropenis, Diabetes mellitus |
ORPHA:85282 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... |
ORPHA:177904 |
| Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased circulating T4 concentration, Precocious puberty, Central adrenal insufficiency, Decrea... |
ORPHA:177901 |
| Myasthenia Gravis |
|
Hyperthyroidism, Glycosuria, Hemolytic anemia, Primary adrenal insufficiency, Abnormality of the ... |
ORPHA:589 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Small for gestational age, Hyp... |
OMIM:300148 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Obesity, Delayed puberty, Hypogonadism |
ORPHA:141333 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Long ... |
OMIM:246200 |
| Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Glob... |
ORPHA:47159 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Increased blood urea nitrogen, Anemia, Hemoglobinuria, Leukopenia, Glycos... |
ORPHA:447 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
| Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Tall stature, Inguinal hernia |
ORPHA:2849 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism |
ORPHA:261483 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Type II diabetes mellitus, Leukemia, Small for gestational age |
OMIM:210900 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Panhypopituitarism, Anterior hypopituitarism, Increased circulating pro... |
ORPHA:91351 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Glycosuria, Stage 5 chronic kidney disease |
OMIM:268315 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
| Prader-Willi-Like Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Decreased circulating T4 concentration, ... |
ORPHA:398073 |
| Joubert Syndrome 38 |
|
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Decreased ser... |
OMIM:619476 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Diabetes mellitus, Anemia, Hyperglycemia |
OMIM:609069 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Insulin resistance, Small for gestational age, Truncal obesity, Hypoglycemia, ... |
ORPHA:73272 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Cystinosis, Nephropathic |
|
Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage 5 chronic ki... |
OMIM:219800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Failure to thrive, Hyperglycemia |
OMIM:220111 |
| Cortisone Reductase Deficiency 1 |
|
Obesity, Precocious puberty |
OMIM:604931 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Tal... |
OMIM:608594 |
| Bardet-Biedl Syndrome 7 |
|
Obesity, Hypogonadism |
OMIM:615984 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Proportionate tall stature, L... |
ORPHA:528 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased serum leptin, Hyper... |
ORPHA:435660 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... |
OMIM:151660 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst, Obesity, Diabetes mellitus |
OMIM:605231 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypoplasia of pen... |
ORPHA:2234 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
| Huntington Disease |
|
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia |
ORPHA:399 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Hypogonadism |
OMIM:615982 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Death in childhood, Decreased circulating ... |
OMIM:619004 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Abnormal glucose homeostasis,... |
ORPHA:391673 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... |
ORPHA:2377 |
| Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Hypoparathyroidism, Increased circulating copper conc... |
OMIM:277900 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
| Bardet-Biedl Syndrome 8 |
|
Obesity, Hypogonadism |
OMIM:615985 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
| Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
| Luscan-Lumish Syndrome |
|
Obesity, Polyphagia, Overgrowth |
OMIM:616831 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Glucose intolerance, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Hypertriglyceri... |
OMIM:619127 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi... |
ORPHA:230 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Decreased serum testosterone co... |
ORPHA:465508 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
| Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
| Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Failure to thrive in infancy |
OMIM:613670 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Loss of truncal subcutaneous adipose ... |
OMIM:608612 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum |
OMIM:618929 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Decreased serum testosterone concentration, Small for gestational age, Hypogon... |
OMIM:300869 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty |
ORPHA:251004 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Graves disease, Increased circulating free T3, Increased circulati... |
ORPHA:525731 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Aminoaciduria, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Hyperglycemia |
OMIM:175700 |
| Pearson Syndrome |
|
Glycosuria, Proteinuria, Hypoplastic spleen, Pancytopenia, Reticulocytosis, Hypoparathyroidism, A... |
ORPHA:699 |
| Short Syndrome |
|
Glucose intolerance, Insulin-resistant diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:269880 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| 14Q22Q23 Microdeletion Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Cryptorchidism, Anterior pitu... |
ORPHA:264200 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Weight loss... |
ORPHA:134 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
| Bangstad Syndrome |
|
Small for gestational age, Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
OMIM:210740 |
| Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Panhypopituitarism, Anteri... |
OMIM:610829 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Truncal obesity, Obesity, Amelogenesis imperfecta |
OMIM:618363 |
| Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398069 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
| Fryns Macrocephaly |
|
Knee flexion contracture, Truncal obesity |
OMIM:600302 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
| Halothane Hepatitis |
|
Obesity |
OMIM:234350 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism |
ORPHA:2233 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Death in infancy, Hypothalamic hamartoma |
OMIM:241800 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Hypoplasia of penis, Truncal obesity, Hypoglycemia, Delayed ... |
ORPHA:633 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased circulating androgen concentration, Increased serum testost... |
ORPHA:769 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity, Hypogonadism |
OMIM:268050 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
| Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Ectopic posterior pituitary |
OMIM:610125 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Nephritis, Decreased response to growth hormone stimulation test, Hypergonadotr... |
OMIM:203800 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Hypertriglyceridemia, Hypogonadism, Diabetes mellitus |
OMIM:615381 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism, Hypothalamic hamartoma |
OMIM:619908 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Short Stature-Obesity Syndrome |
|
Obesity |
OMIM:269870 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Primary hypothyroidism, Weight loss, Central hypothyroidism |
ORPHA:95427 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, Precocious... |
OMIM:176270 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
| Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Lipoma, Oral-pharyngeal dysphagia |
ORPHA:480907 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
| Summitt Syndrome |
|
Obesity, Camptodactyly of finger, Tall stature |
ORPHA:3210 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... |
ORPHA:79102 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Proteinuria, In... |
ORPHA:79086 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Agyria, Lissencephaly, Death in infancy, Agenesis of corpus callosum |
OMIM:616342 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis... |
ORPHA:435651 |
| Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Renal cyst, Hypoalbuminemia, Proximal tubulopathy |
OMIM:602579 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity, Precocious puberty |
ORPHA:254525 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ob... |
ORPHA:261222 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Breast hypoplasia, Anterior pituitary hypoplasia |
ORPHA:464306 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Silver-Russell Syndrome |
|
Precocious puberty, Hypospadias, Abnormality of the urinary system, Cachexia, Insulin resistance,... |
ORPHA:813 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Maternal diabetes, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyper... |
ORPHA:79083 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... |
ORPHA:96184 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism |
OMIM:601794 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Chronic kidney disease, Nephronophthisis, Splenomegaly, Impaired glucose tol... |
OMIM:615630 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Failure to thrive, Small for gestational age |
OMIM:214150 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Obesity, Polyphagia |
OMIM:612469 |
| Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism |
ORPHA:363741 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Overgrowth |
ORPHA:199276 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Type I di... |
ORPHA:227982 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Micropenis, Unilateral renal agenesis, Abnormal circulating lipid concentration, Tru... |
OMIM:616541 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypothyroidism, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
| Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:2512 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,... |
OMIM:616212 |
| Atypical Werner Syndrome |
|
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Renal neop... |
ORPHA:79474 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Abnormal renal tubule morphology, Hypochromic microcytic anemia, Rena... |
ORPHA:440713 |
| Aromatase Deficiency |
|
Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... |
ORPHA:91 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Hypergonadotropic hypogonadism, Type I diabetes mellitus, Central diabetes insipidus, An... |
ORPHA:227990 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... |
ORPHA:3008 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity |
OMIM:614651 |
| Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weig... |
ORPHA:508 |
| Ulnar-Mammary Syndrome |
|
Axillary apocrine gland hypoplasia, Hypoplastic nipples, Ectopic posterior pituitary, Breast hypo... |
OMIM:181450 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum testosterone concentration, Cryptorchidism, Small pituitary gland, Streak ovary, ... |
ORPHA:2232 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
| Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone s... |
ORPHA:189427 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... |
OMIM:612462 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Disproportionate tall stature, Decreased serum estradiol, Obesity, Incre... |
OMIM:615300 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Truncal obesity |
ORPHA:2928 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Dysphagia, Obesity |
OMIM:604360 |
| Angelman Syndrome |
|
Precocious puberty in females, Delayed menarche, Polyphagia, Dysphagia, Obesity |
ORPHA:72 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Glucose intolerance, Pituitary adenoma, Hypokalemia, Abdominal obesity, Increase... |
OMIM:219090 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Scorpion Envenomation |
|
Ketonuria, Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Acute kidney i... |
ORPHA:466677 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Flexion contracture, Insulin resistance, Lipodystrophy, Dysp... |
OMIM:613327 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Glomerulopathy |
ORPHA:2348 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia, Hyperglycemia |
OMIM:615710 |
| Monosomy 13Q34 |
|
Fetal pyelectasis, Infantile hypercalcemia, Obesity, Insulin resistance |
ORPHA:96168 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia |
ORPHA:228402 |
| Primary Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Splenomegaly |
ORPHA:90970 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
| Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... |
ORPHA:358 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Polymicrogyria, Lissencephaly, Pachygyria, A... |
ORPHA:300573 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Renal insufficiency, Obesity |
OMIM:194072 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity, Umbilical hernia |
ORPHA:1035 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Hypogonadism, Obesity, Stage 5 chronic kidney dis... |
OMIM:616629 |
| 48,Xxyy Syndrome |
|
Type II diabetes mellitus, Tall stature, Inguinal hernia, Hypergonadotropic hypogonadism, Obesity... |
ORPHA:10 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus |
OMIM:300049 |
| Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Rafiq Syndrome |
|
Obesity, Flexion contracture, Truncal obesity |
OMIM:614202 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin, Renal insufficiency |
ORPHA:890 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
| Trisomy 18P |
|
Polyphagia |
ORPHA:1715 |
| Wagr Syndrome |
|
Obesity |
ORPHA:893 |
| Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... |
ORPHA:101030 |
| Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity, Puberty and gonadal disorders |
ORPHA:464282 |
| Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypothyroidism, Hypocalcemic tetany, Hyperphospha... |
OMIM:103580 |
| X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Maternal diabetes |
ORPHA:45452 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:601165 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulat... |
ORPHA:293987 |
| Lissencephaly 5 |
|
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615191 |
| Fg Syndrome Type 1 |
|
Cryptorchidism, Small pituitary gland |
ORPHA:93932 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hypercortisol... |
OMIM:219080 |
| Short Syndrome |
|
Insulin resistance, Weight loss, Diabetes mellitus |
ORPHA:3163 |
| Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Cryptorchidism, Delayed puberty, Bilateral cryptorchidism, Anterior pituita... |
ORPHA:466791 |
| Whipple Disease |
|
Splenomegaly, Cachexia, Hypothyroidism, Hyponatremia, Insulin resistance, Anemia |
ORPHA:3452 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Urban-Rogers-Meyer Syndrome |
|
Obesity, Camptodactyly of finger, Flexion contracture of toe, Hypogonadism |
ORPHA:3409 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Glycosuria, Ureteral duplication, Diabetes mellitus, Hyperglycemia |
OMIM:600001 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy |
ORPHA:2822 |
| Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
| Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity |
OMIM:618822 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Urinary retention, Reduced C-peptide lev... |
ORPHA:2126 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu... |
ORPHA:89844 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
| Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypothyroidism,... |
ORPHA:412 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:619841 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
| Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Micropenis, Abnormality of the kidney, Truncal... |
OMIM:209900 |
| Weaver Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Overgrowth, Camptodactyly, Polyphagia, Umbilical ... |
OMIM:277590 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
