| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate... |
ORPHA:324575 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperglycemia, Obesity |
ORPHA:329249 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Agitatio... |
ORPHA:276580 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Agitation, Hyperinsulinemic... |
ORPHA:276575 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Di... |
ORPHA:276556 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Obesity, Glucose intolerance |
ORPHA:369873 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Hepatic fibrosis, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Agitation, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:276608 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism |
OMIM:614962 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
| Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyphagia, Polydipsia |
OMIM:222100 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Anterior pituitary hyp... |
ORPHA:67045 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... |
OMIM:604367 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
| Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... |
OMIM:612526 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Failure to thrive, Hyperinsulin... |
OMIM:606762 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Type II diabetes mellitus, Obesity, Insulin resistance |
OMIM:615703 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly |
ORPHA:2398 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Hepatic steatosis, Diabetes mellitus, Loss of subcutan... |
OMIM:608709 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Fa... |
OMIM:232700 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Abnormal abdomen morphology, Increased circulating free T3, Decreased... |
OMIM:275000 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Increased musc... |
OMIM:610717 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect... |
ORPHA:79085 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Reduced subcut... |
ORPHA:363400 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Ectopic posterior pituitary, Delayed puberty, Cryptorchidism,... |
ORPHA:95496 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Attention deficit hyperactivity disorder, Fasting hyperinsulinemia, Hyperi... |
ORPHA:35878 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Abdominal obesity |
OMIM:615980 |
| Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... |
OMIM:615849 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:618157 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... |
OMIM:606069 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adipon... |
OMIM:615238 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Cirrhosis, Insulin resistance, Adipose tissue lo... |
ORPHA:528 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... |
ORPHA:435651 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... |
OMIM:619048 |
| Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
| Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Tall stature, Abnormal pancreas morphology, Femo... |
ORPHA:2849 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Type II d... |
OMIM:151660 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia |
ORPHA:411515 |
| Joubert Syndrome 38 |
|
Small pituitary gland, Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary,... |
OMIM:619476 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... |
OMIM:300942 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Hyperostosis Frontalis Interna |
|
Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Non-Acquired Panhypopituitarism |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:90695 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Ketotic hypoglycemia |
ORPHA:26792 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Obesity, Failure to th... |
OMIM:615547 |
| Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:2298 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid h... |
OMIM:145650 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity, Hypogonadism |
OMIM:615996 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Small for gestational age, Hepatosplenomegaly, Failure to thrive, Hypoglycemia,... |
ORPHA:79237 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Jaundice, Increased circulating T4 concentration, Elevated hepatic transaminase, T... |
ORPHA:525731 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased body weight |
ORPHA:890 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Hydrocephalus, Increased circulating gonadotro... |
ORPHA:759 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Failure to thrive, ... |
OMIM:606407 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... |
ORPHA:54595 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase |
OMIM:618400 |
| Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Increased circulating prolactin con... |
ORPHA:300385 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... |
ORPHA:181393 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired gluconeoge... |
OMIM:261680 |
| Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Precocious puberty, Adipose tissue loss, Postprandial hypergl... |
OMIM:246200 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
| Pick Disease Of Brain |
|
Disinhibition, Polyphagia |
OMIM:172700 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Very long chain fatty acid accumulation, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Huntington Disease |
|
Weight loss, Choking episodes, Agitation, Polyphagia, Decreased body mass index, Disinhibition, A... |
ORPHA:399 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:173100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Acute pancreatitis, Generaliz... |
ORPHA:79086 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Maternal diabetes, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, Re... |
ORPHA:94086 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
| Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle glycogen content... |
OMIM:261750 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... |
ORPHA:2348 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... |
ORPHA:189439 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Adrenal insufficiency, Elevated circ... |
OMIM:619386 |
| Frontotemporal Dementia |
|
Disinhibition, Polyphagia |
OMIM:600274 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Glucose intolerance, Insulin resistance, Incr... |
ORPHA:2457 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
| Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Increased circula... |
OMIM:102200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicul... |
OMIM:600649 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
| Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... |
ORPHA:95494 |
| Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Obesity |
OMIM:234350 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Elevated circulating growth hormone concentration, Pituitary adenoma |
OMIM:300943 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Elevated hepatic transaminase, Decreased liver function |
OMIM:616829 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:398073 |
| Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| Spermatogenic Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... |
OMIM:615842 |
| Primary Lipodystrophy |
|
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormality of glycolipid metabolism |
ORPHA:2056 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, ... |
ORPHA:42 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
ORPHA:231720 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated hepatic transaminase, Hepatic... |
OMIM:613327 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... |
ORPHA:209902 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Increased body weight, Elevated hepatic transaminase, Portal fibrosi... |
ORPHA:264580 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener... |
OMIM:608612 |
| Luscan-Lumish Syndrome |
|
Overgrowth, Obesity, Polyphagia |
OMIM:616831 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... |
ORPHA:300536 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei... |
ORPHA:398069 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Peripor... |
OMIM:278000 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:201450 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism |
OMIM:610125 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Delayed puberty, Polyphagia, Obesity, Abnormal dental enamel morphology |
ORPHA:251004 |
| Mehmo Syndrome |
|
Diabetes mellitus, Obesity, Agitation |
ORPHA:85282 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failure to thrive, H... |
OMIM:602579 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Impaired glucose toleranc... |
OMIM:248370 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Hypogonadism |
OMIM:615981 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Cholestasis, Primary hypothyr... |
ORPHA:95427 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Elevated hepatic transaminase, Neonatal hypoglycemia,... |
ORPHA:71212 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Corneal scarring, Scarring, Hepatocellular carcinoma, Elevated hepatic trans... |
ORPHA:101330 |
| Hernández-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Hepatomegaly, Obesity |
ORPHA:412 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... |
OMIM:176270 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congen... |
OMIM:614450 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
| Spermatogenic Failure 77 |
|
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... |
OMIM:620103 |
| Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Impaired glucose tolerance, Glucose intolerance, Cholestasis, ... |
OMIM:615630 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia |
ORPHA:228402 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity, Congenital hepatic fibrosis |
ORPHA:2377 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Failure to thrive, Decreased liver function, Dysphagia |
ORPHA:70472 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellit... |
OMIM:615830 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:370 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614582 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Hepatic steatosis, Hepatom... |
OMIM:201475 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis |
ORPHA:139491 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, He... |
ORPHA:91 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Interhypothalamic Adhesion, Cryptorchidism |
OMIM:618929 |
| Wagro Syndrome |
|
Obesity, Polyphagia, Agitation |
OMIM:612469 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated hepatic transaminase, Hepatic steatosis, Hepa... |
ORPHA:228305 |
| Nephronophthisis 15 |
|
Obesity, Elevated hepatic transaminase |
OMIM:614845 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Absence of pubertal development |
OMIM:610628 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Adrenocortical Carcinoma |
|
Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Weight loss, Incr... |
ORPHA:1501 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Diabetes mellitus, Hypoglyc... |
OMIM:616026 |
| Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia |
OMIM:600955 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly |
OMIM:212138 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Small for gestational age, Type I diabetes mellitus |
OMIM:606176 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Jaundice |
ORPHA:3111 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, G... |
ORPHA:79303 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... |
OMIM:618641 |
| Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Polyphagia, Dysphagia, Obesity, Delayed menarche |
ORPHA:72 |
| Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Eunuchoid habitus, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
| Gangliocytoma |
|
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph... |
ORPHA:251937 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Impaired glucose toleranc... |
ORPHA:769 |
| Citrullinemia Type Ii |
|
Hyperactivity, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic... |
ORPHA:247585 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism |
OMIM:619908 |
| Non-Functioning Pituitary Adenoma |
|
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... |
ORPHA:91349 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Disproportionate tall stature, Hepatic steatosis, Inguinal hernia, Failure to thrive, Tall statur... |
OMIM:236200 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Chronic pancreatitis, Pineal cyst, Elevated hepatic tran... |
ORPHA:98908 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Decreased serum estradiol, Small for gestational age, Neoplasm of th... |
ORPHA:2959 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79444 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... |
ORPHA:567983 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Biliary tract abnormality, Type II diabetes mellitus |
ORPHA:3191 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Obesity, Overweight |
OMIM:614651 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive |
OMIM:210200 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, ... |
ORPHA:298 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism |
ORPHA:141333 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance |
ORPHA:96168 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... |
ORPHA:348 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Temple Syndrome |
|
Flexion contracture, Precocious puberty, Small for gestational age, Maturity-onset diabetes of th... |
OMIM:616222 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hyperactivity, Precocious puberty, Hepatic steatosis, Obesity, Arthrogryposis mul... |
ORPHA:254346 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic periportal necrosis |
OMIM:231680 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Decreased body weight, Enlarged ova... |
ORPHA:508 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D... |
ORPHA:444490 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
| Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Elevated hepatic transaminase, Camptodactyly, Hepatos... |
ORPHA:79322 |
| Weaver Syndrome |
|
Joint contracture of the hand, Camptodactyly, Inguinal hernia, Overgrowth, Polyphagia, Umbilical ... |
OMIM:277590 |
| Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Increased intramyocellular lipid droplets, Hepatic steatosis, Micr... |
ORPHA:98907 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... |
ORPHA:79443 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:611126 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Acu... |
ORPHA:99901 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Hydrocephalus |
ORPHA:363717 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Hepatic steatosis, Diabetes mellit... |
OMIM:616263 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transaminase, Hepatocellular ... |
ORPHA:79240 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity |
OMIM:615812 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Increased body weight |
ORPHA:589905 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... |
OMIM:613070 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma, Hydrocephalus |
OMIM:241800 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Agitation |
OMIM:607485 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Elevated circulating alanine aminotransferase concentration, Enlarged k... |
OMIM:608836 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism, Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ci... |
OMIM:615486 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Portal fibrosis, Hepatic steatosis, ... |
OMIM:614300 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hyperactivity, Obesity, Congenital hypothyroidism |
OMIM:614613 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Polyphagia, Obesity |
ORPHA:96121 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilical hernia |
OMIM:618272 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... |
ORPHA:91350 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ventriculomegaly |
ORPHA:467166 |
| Adnp Syndrome |
|
Inguinal hernia, Attention deficit hyperactivity disorder, Polyphagia, Truncal obesity, Umbilical... |
ORPHA:404448 |
| 3-Methylglutaconic Aciduria, Type V |
|
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Microvesicular he... |
OMIM:610198 |
| Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hep... |
ORPHA:465508 |
| Bardet-Biedl Syndrome 21 |
|
Obesity, Elevated hepatic transaminase, Overweight |
OMIM:617406 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Fusion of the left and right thalami |
OMIM:617542 |
| Autoimmune Hepatitis |
|
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Elevated hepat... |
ORPHA:2137 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transami... |
OMIM:617156 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia |
ORPHA:251028 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary |
ORPHA:98889 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis, Hypogonadism |
OMIM:616629 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Left ventricular hy... |
OMIM:619487 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia |
OMIM:156200 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Pineal cyst, Enlarged kidne... |
OMIM:615873 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology |
ORPHA:68 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function |
ORPHA:436271 |
| Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Elevate... |
OMIM:300972 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Abnormality of the endocrine system, Diabetes mellitus, Abnormality of the thyroi... |
ORPHA:77296 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct proliferation, Decrease... |
OMIM:618329 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Pelvic mass, Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Rec... |
ORPHA:2126 |
| Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Glycosur... |
OMIM:277900 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:369840 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology,... |
ORPHA:93111 |
| Ulnar-Mammary Syndrome |
|
Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, Ectopic posterior pituitary, D... |
OMIM:181450 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia |
ORPHA:445038 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Left ventricular hypertrophy, Chronic hepati... |
ORPHA:746 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion |
ORPHA:69665 |
| Chylomicron Retention Disease |
|
Hepatic steatosis, Failure to thrive, Increased hepatocellular lipid droplets, Elevated hepatic t... |
ORPHA:71 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Stankiewicz-Isidor Syndrome |
|
Pineal cyst, Cryptorchidism |
OMIM:617516 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Abnormality of the liver, Hypogonadism, Hepatic steatosi... |
ORPHA:1606 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... |
ORPHA:79474 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Hyperglycemia, Abnormal oral glucose tolerance, Abnormal circulat... |
ORPHA:69076 |
| 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 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Hypogonadism, Lipodystrophy, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Small for gestational age, Elevated hepatic transaminase, Hepatic steat... |
OMIM:613658 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased... |
OMIM:220110 |
| Pearson Syndrome |
|
Hypothyroidism, Hepatic failure, Abnormality of the liver, Decreased response to growth hormone s... |
ORPHA:699 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia |
ORPHA:230 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Flexion contracture, Abnormal subcutaneous fat tissue distribut... |
OMIM:212065 |
| Fructose Intolerance, Hereditary |
|
Cirrhosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... |
OMIM:229600 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ci... |
OMIM:605814 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Decreased liver function, Periportal fibrosis, Elevated hepatic... |
OMIM:124000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis |
ORPHA:52430 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Flexion contracture, Neonatal hypoglycemia |
OMIM:616271 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Hepatic failure, Hepatic steatosis, Hepatic calcification, Hepatomegaly... |
ORPHA:228308 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Nonketotic hypoglycemia, Jaundice, Elevated hepatic transaminase, Acute pancreatitis... |
ORPHA:20 |
| Prolactinoma |
|
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... |
ORPHA:2965 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Miscarriage |
ORPHA:1947 |
| D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Elevated hepatic transaminase, Primary adrenal insuffici... |
OMIM:261515 |
| 8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Ectopic posterior pituitary |
ORPHA:508488 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99413 |
| Turner Syndrome |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:881 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis... |
ORPHA:99226 |
| Early-Onset Schizophrenia |
|
Addictive behavior, Restlessness, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:96369 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst |
OMIM:618885 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Overgrowth, Hepatomegaly, Obesity, Splenomegaly |
OMIM:605309 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Increased circulating ACTH level, Pituitary adenoma, Obesity, Abdomin... |
OMIM:219090 |
| Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:616433 |
| Alström Syndrome |
|
Elevated hepatic transaminase, Dorsocervical fat pad, Hepatic steatosis, Hepatosplenomegaly, Decr... |
ORPHA:64 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Enlarged kidney, Thyroiditis, Hepatocellular carcinoma, Hepatic steatosis, Increa... |
ORPHA:79259 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Prolon... |
OMIM:117550 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypogly... |
ORPHA:66634 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Portal fibrosis, Failure to thri... |
OMIM:619377 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia |
ORPHA:254534 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Elevated hepatic transaminase, Ove... |
ORPHA:26793 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Obesity, Hepatomegaly |
OMIM:612291 |
| Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the... |
ORPHA:3157 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight |
ORPHA:401923 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism |
OMIM:601794 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Hypoglycemia |
OMIM:228100 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Elevated hepatic transaminase, Increased intramyocellular lipid droplets, He... |
ORPHA:17 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperglycemia, Acute hepatic failure |
OMIM:615453 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Increased body weight |
OMIM:182290 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Disproportionate tall stature, Increased circulating gonadotropin leve... |
OMIM:615300 |
| Beta-Ketothiolase Deficiency |
|
Oral aversion, Weight loss, Agitation, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619244 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Death in infancy |
OMIM:619046 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland |
ORPHA:369950 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... |
OMIM:609069 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, H... |
OMIM:619991 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel... |
ORPHA:2235 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Weight loss, Hypersplenism, ... |
ORPHA:275761 |
| Oculoskeletodental Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:557003 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Knee flexion contracture, Birth length greater than 97th percentile, Cirrhosis, Flexion contractu... |
OMIM:300868 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology |
ORPHA:88619 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Microvesicular hepatic steatosis, Small for gestationa... |
ORPHA:404454 |
| Bloom Syndrome |
|
Hepatic steatosis, Type II diabetes mellitus, Small for gestational age |
OMIM:210900 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Flexion contracture, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:617303 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Camptodactyly, Polyphagia, Dysphagia, Congenital hypothy... |
OMIM:607872 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Insulin resistance, Left ventricular hypertrophy, Biliary tract a... |
OMIM:209900 |
| 16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Ventriculomegaly, Hypogonadism, Hydrocephalus, Cryptorchidism |
ORPHA:500055 |
| Perlman Syndrome |
|
Large for gestational age, Congenital diaphragmatic hernia, Hypoglycemia, Visceromegaly, Pancreat... |
OMIM:267000 |
| Abetalipoproteinemia |
|
Hypothyroidism, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:14 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly |
ORPHA:59315 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu... |
OMIM:203700 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology |
ORPHA:404440 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Elevated hepatic transaminase, Left ventricular hypertrophy, Macrovesicular ... |
OMIM:619127 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Impaired glucose tole... |
ORPHA:96253 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Cholestasis, Hepa... |
ORPHA:247598 |
| Arima Syndrome |
|
Cirrhosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Polydipsia |
OMIM:243910 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hepatic steatosis, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity |
OMIM:619321 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Supernumerary nipple, Da... |
ORPHA:397715 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Bilateral cryptorchidism, Lateral ventricle dilatation |
ORPHA:544488 |
| Cach Syndrome |
|
T2 hypointense thalamus |
ORPHA:135 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Decreased body weight, Jaundice, Elevated hepatic transaminase, Agitation, Abnorma... |
OMIM:619475 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:435638 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Pallister-Hall Syndrome |
|
Neonatal death, Decreased response to growth hormone stimulation test, Precocious puberty, Decrea... |
OMIM:146510 |
| Digeorge Syndrome |
|
Hypothyroidism, Femoral hernia, Hypoplasia of the thymus, Hepatic steatosis, Inguinal hernia, Par... |
OMIM:188400 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss, Hepatitis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:615846 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... |
ORPHA:99889 |
| 17Q24.2 Microdeletion Syndrome |
|
Pineal cyst, Decreased response to growth hormone stimulation test |
ORPHA:529962 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly |
OMIM:615356 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, Ventriculomegaly |
OMIM:619775 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Failure to thrive,... |
OMIM:618278 |
