Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
axin interactor, dorsalization associated
Synonyms:
2610208M17Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aida mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aida by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly... ORPHA:99886
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Failure to t... OMIM:614480
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphology OMIM:606528
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Proportio... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, ... ORPHA:75234
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level OMIM:618856
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, High palate, Hype... OMIM:616222
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hepatosplenomegaly, Hyperch... ORPHA:79237
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Adrenal calcification, Hepatosplenome... OMIM:278000
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hypoketo... ORPHA:263455
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... OMIM:615710
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to th... ORPHA:79319
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Protei... OMIM:602579
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hepatitis, Increased circulating ferritin concentration, Spl... OMIM:300635
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal herni... ORPHA:2849
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Reactive hypog... OMIM:600955
Adenocarcinoma Of The Esophagus
Barrett esophagus, Obesity, Gastroesophageal reflux, Esophageal carcinoma ORPHA:99976
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Esophag... ORPHA:264580
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Functional intestinal obstruction,... ORPHA:199276
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Re... ORPHA:79240
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity, Constipation OMIM:103200
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:269700
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia, High palate OMIM:300209
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Villous atrop... OMIM:615863
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Obesity, Increased LDL ... ORPHA:412
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hypertriglyceride... OMIM:613101
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... OMIM:203800
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Hypoglycemi... OMIM:615453
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Failure to thrive... OMIM:227810
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, High palate ORPHA:254531
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism, Cardiomegaly, Colitis ORPHA:88643
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentr... ORPHA:247598
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Necrotizing Enterocolitis
Diarrhea, Vomiting, Bloody diarrhea, Ascites, Hyperglycemia, Abnormal glucose homeostasis, Cyanos... ORPHA:391673
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Lipodys... OMIM:617591
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, Hypercholesterole... ORPHA:96184
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, C... OMIM:620603
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Intellectual Developmental Disorder, X-Linked 91
Obesity, High palate OMIM:300577
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Failure to th... ORPHA:508
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Intermittent diarrhea OMIM:620270
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepa... ORPHA:134
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Increased circulating androge... ORPHA:769
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Increased... ORPHA:158057
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98855
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anterior ... ORPHA:631
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Hypoglycemia, Polysplen... OMIM:619418
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Blue Diaper Syndrome
Diarrhea, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentra... ORPHA:94086
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Type II diabetes mellitus, Hepatic ste... ORPHA:91
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98863
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Abnormality of the thyroid gland, Increased body weight, Constipati... OMIM:182290
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98853
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hyperchol... ORPHA:90065
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Glucose into... OMIM:606721
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... ORPHA:890
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammon... ORPHA:3008
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical... ORPHA:681
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Xanthelasma, Hepatic steatosis, Hepatomegaly, Ente... ORPHA:79259
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver fail... ORPHA:275761
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia, High palate ORPHA:480907
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Werner Syndrome
Insulin resistance, Gastrointestinal carcinoma, Chondrocalcinosis, Hypogonadism, Slender build, T... ORPHA:902
48,Xxyy Syndrome
Gastroesophageal reflux, Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabet... ORPHA:10
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Gaisböck Syndrome
Peptic ulcer, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, ... ORPHA:90041
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Recurrent ... ORPHA:813
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Monosomy 13Q34
Insulin resistance, Hematochezia, Obesity, Hepatic steatosis, Hypercalcemia ORPHA:96168
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Smith-Magenis Syndrome
Precocious puberty, Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Constipation,... ORPHA:819
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Hyponatremia, Cachexia, ... ORPHA:3452
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, High, narrow palate, Hypogonadism, Obesity, Biliary tract a... OMIM:209900
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
H Syndrome
Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Hypertriglyceridemia, C... ORPHA:168569
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Failure to th... OMIM:600001
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate... OMIM:255120
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi... ORPHA:293987
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Constipation, Omphalocel... OMIM:614450
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive... OMIM:176270
Microtriplication 11Q24.1
Obesity, Hyperlipidemia, Cleft palate ORPHA:289522
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Obesity ORPHA:444002
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... ORPHA:2234
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Proteasome-Associated Autoinflammatory Syndrome 1
Chronic constipation, Flexion contracture of finger, Elevated circulating C-reactive protein conc... OMIM:256040
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:277700
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... OMIM:616541
Immunodeficiency 97 With Autoinflammation
Diarrhea, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Enteroc... OMIM:619802
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, In... ORPHA:97283
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Elevated circulating creatinine concentrati... ORPHA:230
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia, High palate ORPHA:90153
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Lysinuric Protein Intolerance
Diarrhea, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis... ORPHA:470
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Necrotizing enterocolitis, Cholestasis, ... OMIM:619573
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyroidism, Arthrogryposis mu... ORPHA:254346
Schaaf-Yang Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Constipation, Campt... OMIM:615547
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Bloom Syndrome
Insulin resistance, Gastroesophageal reflux, Neoplasm of the colon, Stomach cancer, Recurrent gas... ORPHA:125
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Glycerol Kinase Deficiency
Vomiting, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, E... OMIM:307030
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Bardet-Biedl Syndrome 21
Obesity, Elevated circulating hepatic transaminase concentration, Overweight OMIM:617406
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Cyanosis, Hypernatremia OMIM:620423
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Congenital dia... ORPHA:94065
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Elevated circulati... OMIM:618183
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c, Vomiting ORPHA:79134
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Morm Syndrome
Truncal obesity ORPHA:75858
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic h... ORPHA:2183
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, High palate, Umbilical hernia ORPHA:1035
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceri... OMIM:619313
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Rafiq Syndrome
Flexion contracture, Obesity, Truncal obesity OMIM:614202
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Obesity, Weight... ORPHA:79102
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
Trisomy 5P
Obesity ORPHA:1742
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, High palate ORPHA:2233
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Ppoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, In... ORPHA:97278
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, High ... OMIM:270450
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, High, narrow palate, Premature adrenarche, Gastroesophageal reflux, Vomiting,... ORPHA:96182
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... OMIM:603233
Chung-Jansen Syndrome
Obesity, High palate OMIM:617991
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism OMIM:616629
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating h... ORPHA:110
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Diarrhea, Failu... ORPHA:358
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Septo-Optic Dysplasia Spectrum
Obesity, Constipation, Tracheoesophageal fistula, Maternal diabetes, Esophageal atresia, Anterior... ORPHA:3157
Immunodeficiency 61
Obesity OMIM:300310
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Diabetes mellitus OMIM:614613
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
48,Xxxy Syndrome
Gastroesophageal reflux, Abnormal dental enamel morphology, Tall stature, Obesity, Hypogonadism, ... ORPHA:96263
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Truncal obesity, Camptodactyly of finger ORPHA:2928
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Methanol Poisoning
Type I diabetes mellitus, Vomiting, Diarrhea, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Narrow palate, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Long uvula, ... ORPHA:536532
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
High palate, Truncal obesity ORPHA:85280
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly, High palate OMIM:605309
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Clark-Baraitser Syndrome
Obesity, High palate OMIM:617752
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... ORPHA:363618
Baralle-Macken Syndrome
High, narrow palate, Obesity OMIM:619255
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, In... ORPHA:97280
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Hypera... OMIM:615418
Joubert Syndrome 37
Hepatomegaly, Obesity, High palate OMIM:619185
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Obesity OMIM:618124
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:650
13Q12.3 Microdeletion Syndrome
Vomiting, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Constipation, Camptodactyly ORPHA:412035
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A... OMIM:219090
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Obesity, Hyperuricemia, Chronic constipation ORPHA:261222
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small ... OMIM:256300
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Vomiting, Failure to thrive, Hypoglycemia, Anteriorly placed anus, Hyperglycemia, Inguinal hernia... OMIM:220111
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypogonadism, Hypocalcemic tet... OMIM:103580
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... OMIM:619991
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Cornelia De Lange Syndrome 5
Gastroesophageal reflux, Hypogonadism, Truncal obesity, High palate, Cleft palate OMIM:300882
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Obesity, Tall stature, Cleft palate OMIM:618089
Narcolepsy Type 1
Precocious puberty, Obesity, Constipation ORPHA:2073
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Wrist flexion contracture, High palate, Flexion contracture OMIM:300055
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity,... ORPHA:3041
14Q11.2 Microduplication Syndrome
Obesity, Hypothyroidism ORPHA:261229
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive, Polysplenia, High palate OMIM:610543
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, ... OMIM:301066
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Idiopathic Intracranial Hypertension
Nausea, Obesity, Vomiting ORPHA:238624
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... ORPHA:99226
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketot... ORPHA:228308
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Clark-Baraitser syndrome
Tall stature, Obesity, Exaggerated median tongue furrow OMIM:300602
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Xerostomia, Failure to thrive, C... ORPHA:398079
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity, High palate ORPHA:2180
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Steinert Myotonic Dystrophy
Insulin resistance, Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepati... ORPHA:273
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Precocious puberty, Gastroesophageal reflux, Obesity, Abnormal gastrointesti... ORPHA:369837
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Decreased body weight, Constipation, Dysp... ORPHA:589821
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Umbilical hernia, Obesity, Type II diabetes... ORPHA:870
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
White-Sutton Syndrome
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Obesity, Congenital diaphragmatic hernia... OMIM:616364
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Beckwith-Wiedemann Syndrome
Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemi... ORPHA:116
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Gastroesophageal reflux, Obesity, Encopresis, Hepatomegaly, High palate OMIM:618443
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:118450
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreati... OMIM:232240
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Focal Segmental Glomerulosclerosis 1
Ascites, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Xp21 Deletion Syndrome
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... ORPHA:261476
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration, High palate OMIM:620191
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Hyperglycemia, Ob... ORPHA:444077
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cleft palat... ORPHA:261197
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Scorpion Envenomation
Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Elevated circulating aspartate aminotransferase co... ORPHA:466677
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Wagr Syndrome
Obesity ORPHA:893
Radio-Tartaglia Syndrome
High, narrow palate, Precocious puberty, Gastroesophageal reflux, Obesity, Constipation, High pal... OMIM:619312
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Hypocalcemia, ... ORPHA:247353
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Polysplenia, Umbilical hernia, Obesity, Omphal... OMIM:201000
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Distal Deletion 12Q
High, narrow palate, Congenital hypertrophy of left ventricle, Annular pancreas, Maturity-onset d... ORPHA:96149
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Constipation OMIM:618430
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Chronic constipation OMIM:619056
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Diarrhea, Increased circulating cortisol level, Increase... ORPHA:99889
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Delayed puberty, Increased blood urea nitrogen, Hyper... ORPHA:251004
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Gastroesophageal reflux, Xerostomia, Failure to thrive... ORPHA:398069
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Obesity, Gastroesophageal reflux, Overgrowth OMIM:620250
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Neuroendocrine neoplasm, Umbilical hernia ORPHA:404443
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Macroglossia, Delayed puberty, Abdominal obesity OMIM:300354
Chromosome 2Q37 Deletion Syndrome
Obesity, Hypothyroidism OMIM:600430
Shox-Related Short Stature
Obesity, High palate ORPHA:314795
Retinitis Pigmentosa 51
Obesity OMIM:613464
Alström Syndrome
Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me... ORPHA:64
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Hypothyroidism, Constipation ORPHA:36397
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy ORPHA:93952
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone level ORPHA:439822
Atelis Syndrome 2
Hyperinsulinemia, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone conce... OMIM:620185
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
2Q37 Microdeletion Syndrome
Pyloric stenosis, Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity OMIM:601794
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Laurence-Moon Syndrome
Obesity OMIM:245800
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity, Precocious puberty ORPHA:163681
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... ORPHA:2235
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
X-Linked Intellectual Disability, Cabezas Type