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:
N/A

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
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Failure to thrive in infancy, ... OMIM:232700
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Chil... ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy OMIM:613877
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Maturity-onset diabetes of the young, Hypothyroidism, Umbilical ... ORPHA:99886
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, Hepatomegaly, Hypertr... OMIM:615238
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting, Abnormal intestine morphology OMIM:606528
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type ... ORPHA:181393
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Macroglossia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Abnormality of the gastrointestinal tract, P... ORPHA:2089
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mandibuloacral Dysplasia
Hypercholesterolemia, Abnormal tongue morphology, Increased intraabdominal fat, Glucose intoleran... ORPHA:2457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Dysphagia, Hepatic steatosis... OMIM:613327
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Obesity OMIM:617885
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Diarrhea, Hypersplenism, Vomiting, Cirrhosis, Increased hepatic echogenicit... OMIM:278000
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Hype... ORPHA:2348
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Hypoalbumin... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Elevated circulating aspartate aminotransferase concentra... ORPHA:2088
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Intestinal malrotation... OMIM:615710
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... ORPHA:264580
Perlman Syndrome
Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas ... ORPHA:2849
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Increased circulating ferritin concentration, Colitis, Hepat... OMIM:300635
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Splenomegaly, Pancr... ORPHA:90970
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypoglycemia, Adrenal insufficiency, Hypertriglyceridemia, Small for g... OMIM:307030
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Zollinger-Ellison syndrome, Fasting hyperinsulin... ORPHA:97279
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Familial Multiple Lipomatosis
Functional intestinal obstruction, Insulin resistance, Lipodystrophy, Overgrowth, Increased adipo... ORPHA:199276
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Hyperbilirubinemia, Decreased response to growth hormo... OMIM:609734
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hyperlipidemia,... ORPHA:369
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Decreased HDL cholesterol concentration, Increased intraabdominal fat, ... ORPHA:280365
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hypothy... ORPHA:465508
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Diarrhea, Hypogonadotropic hypogonadism, M... OMIM:600955
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:608594
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Barrett esophagus, Obesity ORPHA:99976
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:618858
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Colon cancer, Obesity OMIM:300310
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hypertriglyceridemia, Splenomegaly, Hepato... OMIM:613101
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Small for gestational... OMIM:606176
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissue, Hype... OMIM:609069
Adiposis Dolorosa
Constipation, Painful subcutaneous lipomas, Obesity OMIM:103200
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Acute pancreatitis, Recurrent pancreatitis, Jaundice, P... ORPHA:444490
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Hypothyroidism, Acute pancreatitis, Hepatom... ORPHA:412
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hypergonadotropic hypo... OMIM:203800
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Isolated Sedoheptulokinase Deficiency
Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Flexion contracture, Steatorrhea,... ORPHA:440713
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Hyperglyc... OMIM:175700
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:1414
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Diarrhea, Hypoalbuminemia, Fai... OMIM:615863
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Hyperlipoproteinemia, Type Id
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia OMIM:615947
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Flexion contracture, Panniculitis, Lipodystrophy, Hepatomegaly, Hy... OMIM:617591
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Necrotizing Enterocolitis
Peritonitis, Hyponatremia, Small for gestational age, Ascites, Diarrhea, Vomiting, Hyperglycemia,... ORPHA:391673
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating... OMIM:232400
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, High palate, Precocious puberty, Obesity ORPHA:254531
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Cardiomegaly, Hypoalbuminemia, Obesity ORPHA:88643
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Mental Retardation, X-Linked 91
High palate, Obesity OMIM:300577
Narcolepsy Type 1
Obesity ORPHA:2073
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Hypopituitarism, Hypertriglycer... OMIM:619013
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Biliary tract abnormality, Inguinal hernia, Type II dia... ORPHA:3191
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Enlarged ovaries, Postprandial hyperglyce... ORPHA:769
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestati... ORPHA:73272
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperuricemia, Hypoglycemia, Weight loss, Hepatomegaly, Diarrhea, Vomiting, Hyper... ORPHA:134
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Smith-Magenis Syndrome
Hypercholesterolemia, Constipation, Hypertriglyceridemia, Abnormality of the thyroid gland, Incre... OMIM:182290
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Splenomegaly OMIM:618398
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Truncal obesity, Inguinal hernia, Hip contracture, Cleft palate, High pa... OMIM:618363
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Rafiq Syndrome
Obesity OMIM:614202
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypothyroidism, Nausea, Hypopituitarism, Left ventricular hypertrophy, Vomi... ORPHA:90065
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
H Syndrome
Enlarged kidney, Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Delayed puberty, Hernia, Dia... ORPHA:168569
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypoglycemia, Hypertriglyceridemia, Adrenal insufficiency, Hypoalbuminemia, Hypog... OMIM:617575
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, Imp... OMIM:212140
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Diarrhe... OMIM:255120
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Whipple Disease
Gastrointestinal hemorrhage, Insulin resistance, Hypothyroidism, Hyponatremia, Hepatomegaly, Diar... ORPHA:3452
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemi... ORPHA:26793
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity, Delayed puberty, Abnormality of the endocrin... ORPHA:633
Placental Insufficiency
Hypoxemia, Small for gestational age, Insulin resistance ORPHA:439167
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Adrenocortical adenoma, Episodic hyp... ORPHA:681
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Diarrhea, Hyperli... ORPHA:79259
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin resistance, Insulin-r... ORPHA:90301
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Weight loss, Jaundice, Decre... ORPHA:275761
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
High palate, Oral-pharyngeal dysphagia, Lipoma, Obesity ORPHA:480907
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Elevated hepatic transaminase, Colitis, Hepatomegal... ORPHA:540
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
48,Xxyy Syndrome
Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Constipation, Gastroesophageal... ORPHA:10
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Constipation, Gastroesophageal reflux, Failure to thriv... ORPHA:813
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
Monosomy 13Q34
Hematochezia, Insulin resistance, Hepatic steatosis, Infantile hypercalcemia, Obesity ORPHA:96168
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Elevated hepatic transaminase, Abnormality of the hypothalamus-pituitary... ORPHA:293987
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Summitt Syndrome
Obesity OMIM:272350
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Nausea, Increased circulating chylomicron concentration, ... OMIM:238600
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased T3/T4 ratio, Constipation, Omphalocele, Impaired sensitivity to thyroid h... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Aplasia of the left hemidiaphragm, Biliary atresia, Intestinal malrotation, U... OMIM:600001
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Obesity OMIM:248100
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Microtriplication 11Q24.1
Cleft palate, Hyperlipidemia, Obesity ORPHA:289522
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Conjugated hyperbil... ORPHA:567983
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Gastrointestina... ORPHA:902
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Constipation, Gastroesophageal reflux, Failure to thrive in... ORPHA:819
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate... OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 1
Impaired glucose tolerance, Elevated circulating thyroid-stimulating hormone concentration, Eleva... OMIM:256040
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Inguinal hernia, Cleft palate, Obesity OMIM:300209
Ppoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97278
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Abnormal circulating lipid concentration, Inguinal hernia, Tr... OMIM:616541
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Camptodactyly, Gastroesophageal reflux, Flexion contracture, ... OMIM:615547
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Umbilical hernia, Obesity ORPHA:1035
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Obesity ORPHA:141333
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulating creatin... ORPHA:230
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Diarrhea, ... ORPHA:470
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, High palate, Lipodystrophy, Decreased body weight, ... OMIM:270450
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Constipation, Pelvic mass, Neoplasm of t... ORPHA:2126
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Obesity OMIM:618124
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Niemann-Pick Disease Type B
Cirrhosis, Decreased serum insulin-like growth factor 1, Abnormal circulating lipid concentration... ORPHA:77293
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Glucagonoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97280
Bardet-Biedl Syndrome 21
Overweight, Elevated hepatic transaminase, Obesity OMIM:617406
Grfoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97261
Wolman Disease
Steatorrhea, Esophageal varix, Hepatomegaly, Adrenal insufficiency, Cachexia, Hepatic failure, Sp... ORPHA:75233
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hepatic steatosis, Hypothyroidism, Cleft palate, Precocious p... ORPHA:254346
Bloom Syndrome
Recurrent gastroenteritis, Insulin resistance, Adipose tissue loss, Gastroesophageal reflux, Esop... ORPHA:125
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Cholestasis, Obesity OMIM:616629
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Obesity OMIM:605309
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphos... OMIM:603233
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Maternal diabetes, Hypermagnesemia, Glucose intolerance, Graves dis... ORPHA:358
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Mildly... ORPHA:79102
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger, Truncal obesity ORPHA:2928
Clark-Baraitser Syndrome
High palate, Obesity OMIM:617752
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Abnormality of the hypothalamus-pituitary ax... ORPHA:2183
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Constipation, Gastro... ORPHA:96182
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Elevated hemoglobin A1c, Macrovesicular hepat... OMIM:619127
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Macronodular adrenal hyperplasia, Failure to thrive ORPHA:189427
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormality o... ORPHA:363618
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Gastrointesti... ORPHA:131
Trisomy 5P
Obesity ORPHA:1742
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Hypogonadism, Obesity ORPHA:2233
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Cellulitis, Ventral hernia, Long uvula, Umbilical hernia, Hypertriglyceridemia, In... ORPHA:536532
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Abnormal circulating ... ORPHA:1501
Multiple Endocrine Neoplasia, Type I
Esophagitis, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:131100
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimuation test, Anal atresia, Small for gestational age, He... ORPHA:94065
Chung-Jansen Syndrome
High palate, Obesity OMIM:617991
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:612462
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hypothyroidism, Hyponatremia, Protein-losing enteropathy, Hypertrigly... OMIM:618183
48,Xxxy Syndrome
Abnormal dental enamel morphology, Constipation, Gastroesophageal reflux, Tall stature, Inguinal ... ORPHA:96263
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Dend Syndrome
Vomiting, Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Aganglionic megacolon, Biliary tract abnormality, Hepatic fibrosi... OMIM:209900
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
High palate, Truncal obesity ORPHA:85280
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Abnormality of the hypothalamus-pituitary axis, Constipation, Esophageal atres... ORPHA:3157
Cushing Disease
Lipodystrophy, Truncal obesity, Hypokalemia, Failure to thrive, Adrenal hyperplasia, Diabetes mel... ORPHA:96253
Down Syndrome
Macroglossia, Narrow palate, Hypothyroidism, Aganglionic megacolon, Umbilical hernia, Protruding ... ORPHA:870
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
13Q12.3 Microdeletion Syndrome
Camptodactyly, Constipation, Failure to thrive, Congenital diaphragmatic hernia, Vomiting, Obesity ORPHA:412035
Baralle-Macken Syndrome
High, narrow palate, Obesity OMIM:619255
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Thyroiditis, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Thyroiditis, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Thyroiditis, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Thyroiditis, Gastrointestinal angiodysplasia, Failure to thrive ... ORPHA:99226
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Elevated circul... OMIM:103580
Methanol Poisoning
Diarrhea, Type I diabetes mellitus, Type II diabetes mellitus, Vomiting, Hyperlipidemia ORPHA:31825
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice... OMIM:232200
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridemia, Dia... OMIM:619313
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Obesity OMIM:604360
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit, High palate, ... ORPHA:3041
Prader-Willi Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure to thrive in infa... OMIM:176270
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Gastroesophageal reflux, Small for gestational age, Hypoalbumine... OMIM:256300
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Hypothyroidism, Perip... ORPHA:30391
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon, Hyperuricemia, Obesity ORPHA:261222
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Carpenter Syndrome
Polysplenia, Umbilical hernia, Obesity ORPHA:65759
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Cornelia De Lange Syndrome 5
Gastroesophageal reflux, Truncal obesity, Cleft palate, High palate, Hypogonadism OMIM:300882
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Diarr... OMIM:602347
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Abnormal dental enamel morphology, Obesity ORPHA:2180
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Morphological abnormality of the gastrointestinal tract, Gastroesophageal reflux, Hypertriglyceri... ORPHA:369837
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tall stature, Obesity OMIM:300602
Alagille Syndrome 1
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Reduced number of intrahepatic bi... OMIM:118450
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Flexion contracture of toe, Obesity ORPHA:3409
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Idiopathic Intracranial Hypertension
Vomiting, Nausea, Obesity ORPHA:238624
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Elevated hepatic transaminase, Insulin... ORPHA:273
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Protruding tongue, Failure to thrive, Cleft palate, Bifid uvula, ... OMIM:612938
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Kennerknecht Syndrome
High palate, Malrotation of colon, Omphalocele, Abdominal obesity OMIM:600908
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Tall stature, Obesity OMIM:300431
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Obesity ORPHA:444002
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Beckwith-Wiedemann Syndrome
Pseudohypoparathyroidism, Omphalocele, Large intestinal polyposis, Cardiomegaly, Adrenocortical c... ORPHA:116
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98793
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Obesity ORPHA:166024
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Polysplenia, Failure to thrive, Obesity OMIM:610543
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177904
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hypertyro... OMIM:276700
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis, Small for gestational age, Obesity ORPHA:777
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hyperurice... OMIM:232220
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177901
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypertriglyceridemia, Adrenal insufficiency, Elevated circulating ... ORPHA:261476
Xp22.13P22.2 Duplication Syndrome
High palate, Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperammonemia, Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, De... ORPHA:228308
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Acute pancreatitis, Glycosuria, Increased circu... ORPHA:466677
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Decreased plasma free carnitine, Hepa... ORPHA:157
Wagr Syndrome
Obesity ORPHA:893
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Premature pubarche, Premature adrenarche, Decreased circulat... ORPHA:398073
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Biliary atresia, Esophageal atresia, Failure to thrive in i... ORPHA:96149
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, High palate, Obesity OMIM:617157
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Abnormality of the endocrine system, Obesity ORPHA:464288
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Hypothyroidism, Constipation, Gastroesophageal reflux, Decreased response to growth... ORPHA:444077
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Gastroesophageal reflux, Flexion contracture, Central hypothyroidism, Hypotha... ORPHA:398069
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Cleft palate, Decreased ... OMIM:615300
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Radio-Tartaglia Syndrome
Dysphagia, Constipation, Gastroesophageal reflux, High palate, High, narrow palate, Precocious pu... OMIM:619312
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Congenital diaphragmatic hernia, Failure to thrive, Cleft palate, Pylori... ORPHA:261197
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Increased blood urea nitrogen, Enlarged kidney, Delayed pubert... ORPHA:251004
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Bardet-Biedl Syndrome
Hepatic fibrosis, Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Delayed puberty, Macroglossia, Abdominal obesity OMIM:300354
Adiposis Dolorosa
Hypothyroidism, Constipation, Xerostomia, Diarrhea, Obesity ORPHA:36397
Shox-Related Short Stature
High palate, Obesity ORPHA:314795
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Elevated hepatic transaminase, Hyp... ORPHA:167
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Carpenter Syndrome 1
Polysplenia, Camptodactyly, Omphalocele, Umbilical hernia, Joint contracture of the hand, High pa... OMIM:201000
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased circulating ferritin concentration, Elevated hepat... ORPHA:2442
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Flexion contracture, Lipoatrophy, Absence of subcutaneous fat, Hypertriglyceridemia, F... OMIM:264090
Glycogen Storage Disease Ic
Xanthelasma, Chronic pancreatitis, Hepatocellular carcinoma, Hyperuricemia, Hypoglycemia, Hepatom... OMIM:232240
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Overweight, Dysphagia, Constipation, Gastroesophageal... OMIM:619229
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Cachexia, High palate, Hypogonadism, Obesity ORPHA:85293
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Constipation, Tall stature, Obesity OMIM:618430
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... ORPHA:457059
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Umbilical hernia, Obesity ORPHA:1001
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Left ventricular hypertrophy, Hypocholesterolemia ORPHA:31150
Prader-Willi Syndrome
Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gland, Decrease... ORPHA:739
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ectopic anus, Delayed puberty, Anal atresia, Pyloric stenosis, Hernia of... ORPHA:3138
Kleefstra Syndrome
Macroglossia, Constipation, Gastroesophageal reflux, Bowel incontinence, Hernia, Pyloric stenosis... ORPHA:261494
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity ORPHA:404443
Megalencephaly
Truncal obesity ORPHA:2477
Wiedemann-Rautenstrauch Syndrome
Slender build, Camptodactyly of finger, Congenital generalized lipodystrophy, Hepatic steatosis, ... ORPHA:3455
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Protruding tongue, Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Increased serum testosterone level, Obesity ORPHA:247768
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Left ventricular hypertrophy, Obesity ORPHA:563
Momo Syndrome
Tall stature, Overgrowth, High palate, Large for gestational age, Obesity ORPHA:2563
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ectopic anus, Cleft palate, High palate, Obesity ORPHA:251038
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic ... OMIM:229600
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Hypoca... ORPHA:79444
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hypopituitaris... ORPHA:54595
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Abdominal Obesity-Metabolic Syndrome 3