Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Rap guanine nucleotide exchange factor (GEF) 3
Synonyms:
9330170P05Rik,  Epac1,  2310016P22Rik

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 Rapgef3 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 Rapgef3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Intraut... ORPHA:99886
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... OMIM:615703
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... ORPHA:314802
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries, ... ORPHA:280356
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
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Increased circulating ferritin concentration, Hypog... ORPHA:79230
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... ORPHA:69663
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Adrenal insufficiency, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevate... OMIM:619386
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... OMIM:262400
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat... OMIM:614480
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Decreased testi... OMIM:616222
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL ... ORPHA:412
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Hyperur... ORPHA:79083
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... OMIM:167800
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-p... OMIM:615238
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Hypophosphatem... ORPHA:263455
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:151660
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive protein concent... ORPHA:676
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... OMIM:616834
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... OMIM:618620
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hypertrigl... ORPHA:2348
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly OMIM:610539
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Maple Syrup Urine Disease, Type Ia
Elevated circulating L-alloisoleucine concentration, Pancreatitis, Hypoglycemia, Elevated circula... OMIM:248600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc... ORPHA:2088
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Tub... OMIM:251000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Propionic Acidemia
Failure to thrive, Hypoglycemia, Eczematoid dermatitis, Hyperglycinemia, Hyperammonemia, Pancreat... OMIM:606054
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism OMIM:619737
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Hepatic steatosis, Cryptorchidism, Hypertriglyceridemia, H... OMIM:615381
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertrigl... OMIM:603552
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hyperammonemia, Splenomegaly, Pancreatitis, Hepatomegaly ORPHA:79312
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hyperlipidemia, Increased hep... ORPHA:369
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Decreased HDL cholesterol concentra... ORPHA:247585
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Hypocholesterolemia, Splenomeg... OMIM:607765
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem... OMIM:620211
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ... ORPHA:65682
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis, Abnormal blood gas level, Hypoxemia, Diabetic ketoacidosis ORPHA:70578
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Chylous Ascites
Pancreatitis ORPHA:1160
Glycogen Storage Disease Ia
Hypoglycemia, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Pancreatitis, Delayed puberty, Fa... OMIM:232200
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Glycogen Storage Disease Ib
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Hyperlipidemia, Splenomegaly, Hyp... OMIM:232220
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Recurrent p... OMIM:145001
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Cholestasis, Hepatic steatosi... ORPHA:264580
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Failure to thrive, Abnormal circulating carnitine ... ORPHA:431361
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, T... ORPHA:73272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Glycogen Storage Disease Iii
Hepatic fibrosis, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h... ORPHA:94086
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Cyanosis, Hyponatremia, Peritonitis, Small for gesta... ORPHA:391673
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Hepatic steatosis, Eunuchoi... ORPHA:91
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism, Small for gestational age, Failure to thrive OMIM:610883
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidis... OMIM:617575
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... OMIM:266510
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ... ORPHA:90301
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypothyroidism, Hypertri... OMIM:619013
Immunodeficiency 109 With Lymphoproliferation
Bronchiectasis, Splenomegaly, Recurrent sinusitis, Hypertriglyceridemia OMIM:620282
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical... ORPHA:681
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus, Pancrea... OMIM:609069
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Recurrent sinusit... OMIM:613101
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesit... OMIM:609734
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, F... ORPHA:35878
Tropical Calcific Pancreatitis
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... OMIM:608189
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Failure to thrive, Hypoglycemia OMIM:615453
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Decreased HDL cholesterol concentration, Hepatic... ORPHA:280365
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia OMIM:177000
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Neutral Lipid Storage Disease With Myopathy
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... OMIM:610717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Tall stature, Hepatic steatosis, Pancreatitis, Hyperhomocy... OMIM:236200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... ORPHA:79259
Morgagni-Stewart-Morel Syndrome
Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterole... ORPHA:77296
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hyperc... ORPHA:254531
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... ORPHA:412057
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increa... OMIM:615830
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Weight loss, Hepatomegaly ORPHA:134
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh... OMIM:262600
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar... OMIM:269880
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, ... OMIM:613327
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Decreased serum leptin, Hyperinsulinemia, Tall stature, Hepatic steatosis, Sp... OMIM:608594
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Increased total bilirubin ORPHA:890
Whipple Disease
Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Myositis, Cache... ORPHA:3452
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Recurrent pneumonia, Failure to thrive, Cryptorchidism, Small for gestational... OMIM:214150
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridem... OMIM:620603
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis, Nonketotic hyperglycinemia ORPHA:135
Acute Lung Injury
Pneumonia, Elevated circulating C-reactive protein concentration, Increased circulating surfactan... ORPHA:178320
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Failure to thrive... OMIM:227810
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:608776
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... OMIM:600803
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine... ORPHA:565612
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hepatic steatosis, Steatorrhea, Increased hepatocellular ... ORPHA:71
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Tall stature, Type II diabetes mellitus, Hepatic steato... OMIM:269700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchid... OMIM:307030
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype... ORPHA:3008
Cholestasis-Lymphedema Syndrome
Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatome... OMIM:214900
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Squalene Synthase Deficiency
Bilateral cryptorchidism, Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL choles... OMIM:618156
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Decreased body weight, Eleva... ORPHA:96180
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancreas physiology, Hepati... ORPHA:93111
Gaisböck Syndrome
Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperpro... ORPHA:90041
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Obesity, Pancreatitis, Hypercholesterolemia OMIM:619471
Smith-Magenis Syndrome
Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Crypto... ORPHA:96184
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Hyperlipidemia ORPHA:199276
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Mehmo Syndrome
Obesity, Diabetes mellitus, Cryptorchidism ORPHA:85282
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Congenital hypothyroidism, Obesity ORPHA:88643
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Cryptorchidism, Hypothyroidism, Tru... OMIM:616541
Mccune-Albright Syndrome
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... ORPHA:562
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia OMIM:145980
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Elevated carcinoma antigen 125 level, Weight loss, Pancreatitis, Jaundice, Ov... ORPHA:370348
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... ORPHA:98908
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Obesity, Weight... ORPHA:79102
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Decreased HDL cholesterol concentration, Decreased respons... OMIM:176270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipide... OMIM:232240
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Biliary tract abnor... ORPHA:3191
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Systemic Capillary Leak Syndrome
Myocarditis, Weight loss, Pancreatitis, Pericarditis ORPHA:188
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi... ORPHA:549
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty, Hyper... ORPHA:819
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Hepat... ORPHA:171
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Pancreatitis, Primary hyperparathyroidism OMIM:145981
2P21 Microdeletion Syndrome
Hypogonadism, Growth delay, Failure to thrive, Hypoglycemia ORPHA:163693
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Failure to thrive, Abnormality of thyroid physiology, Hyperlip... ORPHA:1830
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Weight loss, Pancre... ORPHA:31205
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr... OMIM:610628
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... ORPHA:158057
Bangstad Syndrome
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go... OMIM:210740
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Splenomegaly, Skin rash, Myositis, Sinusitis, Arthritis, Hypertriglyceridemia,... OMIM:617591
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Hyperammonemia, Hyperuricemia, Lipid accumulation in hepatocytes, Weight ... ORPHA:20
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Congenital hepatic fibrosis ORPHA:2377
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... OMIM:603233
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypocholesterolemia, Hydrocele testis OMIM:618810
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:603553
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Increased circulating ferritin concentration, Splenom... ORPHA:540
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Hepatomegaly... OMIM:616026
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Increased... ORPHA:158061
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Obesity, Abnormali... OMIM:209900
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland, Eunuchoid hab... ORPHA:2234
Congenital Syphilis
Pneumonia, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Pancreatitis, Myocarditis, Pro... ORPHA:499009
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... ORPHA:2552
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Hypocholesterolemia, Hepatic steatosis, Hyp... OMIM:212065
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Recurrent p... OMIM:606721
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Panniculitis, Splenomegaly, Increased circulating ferritin concentration OMIM:618398
Tenorio Syndrome
Recurrent pneumonia, Hypoglycemia, Recurrent aphthous stomatitis, Keratoconjunctivitis sicca, Hyp... OMIM:616260
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension, He... OMIM:619487
Glycosylphosphatidylinositol Biosynthesis Defect 17
Osteomyelitis, Chronic otitis media, Hypertriglyceridemia OMIM:618010
Microscopic Polyangiitis
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... ORPHA:727
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Failure to thrive, Recurrent hypoglycemia, Hypocholesterole... ORPHA:79324
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, A... ORPHA:14
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Graves disease, Failure to thrive,... ORPHA:358
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Mirizzi Syndrome
Cholelithiasis, Hyperbilirubinemia, Pancreatitis, Abnormal ductus choledochus morphology, Gallbla... ORPHA:521219
Werner Syndrome
Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia OMIM:277700
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Transient hyperlipidemia, Hypoglycemia ORPHA:156
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypoplastic spleen, Increased circulating ferritin concentration, Hyper... OMIM:619313
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... OMIM:219700
Werner Syndrome
Insulin resistance, Hypogonadism, Slender build, Thyroid carcinoma, Type II diabetes mellitus, Ap... ORPHA:902
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp... OMIM:616113
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism OMIM:600740
Immunodeficiency 97 With Autoinflammation
Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis media, Hepa... OMIM:619802
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Failure to thrive, Decreased respon... ORPHA:96182
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Cyanosis, Hypernatremia OMIM:620423
H Syndrome
Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Chronic rhi... ORPHA:168569
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Breast aplasia ORPHA:90153
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... OMIM:618935
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... ORPHA:143
Short Syndrome
Insulin resistance, Weight loss, Diabetes mellitus ORPHA:3163
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Hyperbilirubinemia, Portal hypertension, Congenital hepa... ORPHA:480520
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Lysinuric Protein Intolerance
Failure to thrive, Increased circulating ferritin concentration, Splenomegaly, Hyperammonemia, Pa... OMIM:222700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepatomegaly, Impaired... OMIM:615630
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l... ORPHA:79474
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... OMIM:615363
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... ORPHA:449395
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Primary adrenal i... ORPHA:275761
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98855
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Inguinal hernia, Att... ORPHA:397590
Xp21 Deletion Syndrome
Recurrent otitis media, Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulatin... ORPHA:261476
Scorpion Envenomation
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... ORPHA:466677
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Cryptorchidism, Obesity OMIM:614613
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:31825
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:600001
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus, Hypercholesterolemia ORPHA:401923
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity, Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentrat... ORPHA:98853
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... OMIM:276700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Hyp... ORPHA:26793
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Hypogonadism, Decrease... ORPHA:110
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... ORPHA:99880
Melas
Type I diabetes mellitus, Failure to thrive, Type II diabetes mellitus, Hypogonadotropic hypogona... ORPHA:550
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic beta cells, Insulin-resistant diabetes... OMIM:226980
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Hepatic steatosis, Hyperammonemia, Elevated circulating creatine kinase... OMIM:255120
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Exocrine pancreatic insufficiency, Recurrent otitis media, Splenomegaly, Decrease... OMIM:618268
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Inflammatory abnormality of the eye, Pr... ORPHA:900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Palmoplantar hyperhidrosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypocalcemia, Hyponatremia, Pancreatitis, Myocarditis, Septic arthritis, Hyperkalemia,... ORPHA:544482
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Hypoamylasemia, Absent gallbladder, Reduced C-pepti... ORPHA:556955
Perlman Syndrome
Large for gestational age, Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Peritonitis, Pancreatit... ORPHA:90038
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Bloom Syndrome
Insulin resistance, Pneumonia, Otitis media, Skin rash, Abdominal obesity, Rhinitis, Cheilitis, D... ORPHA:125
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Hypokalemia, A... OMIM:219090
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... ORPHA:449427
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... ORPHA:77293
Marburg Hemorrhagic Fever
Hypoalbuminemia, Uveitis, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamyla... ORPHA:99826
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia, Small for gestational age OMIM:256300
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Hy... ORPHA:98907
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Parotitis, Dec... OMIM:256040
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Recurrent otitis media, Cryptorchidism ORPHA:589905
Classical-Like Ehlers-Danlos Syndrome Type 2
Periodontitis, Cryptorchidism, Keratoconjunctivitis sicca, Hypertriglyceridemia, Diabetes mellitus ORPHA:536532
Pauci-Immune Glomerulonephritis
Arteritis, Elevated circulating creatinine concentration, Scleritis, Pancreatitis, Glomerulonephr... ORPHA:93126
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Acne OMIM:604931
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia, Cryptorchidism, Hypoglycemia OMIM:619075
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypogonadism, Hypocalcemic tet... OMIM:103580
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia OMIM:618838
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:157
Behçet Disease
Recurrent aphthous stomatitis, Splenomegaly, Orchitis, Increased inflammatory response, Myositis,... ORPHA:117
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia ORPHA:369837
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... ORPHA:567983
Coccidioidomycosis
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... ORPHA:228123
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesi... ORPHA:444077
Alagille Syndrome 1
Failure to thrive, Cholestasis, Exocrine pancreatic insufficiency, Hypertriglyceridemia, Reduced ... OMIM:118450
Igg4-Related Ophthalmic Disease
Keratitis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatit... ORPHA:449563
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Male hypogonadism, Decreased response to growth hormone stimu... ORPHA:273
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Inflammatory abnormality of the skin, Failure to thrive, Eczematoid dermatitis, ... ORPHA:3260
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Hypothyroidism ORPHA:254346
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free... ORPHA:228308
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Stevens-Johnson Syndrome
Conjunctivitis, Weight loss, Pancreatitis ORPHA:36426
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Microvesicular hepatic steatosis,... OMIM:220111
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... ORPHA:733
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidi... ORPHA:398079
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Splenomegaly, Abnormal inflammatory response, Hyper... ORPHA:158048
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Toxic Epidermal Necrolysis
Conjunctivitis, Weight loss, Pancreatitis ORPHA:537
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Familial Mediterranean Fever
Erysipelas, Splenomegaly, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthrit... ORPHA:342
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes... ORPHA:3157
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insu... OMIM:137920
Sotos Syndrome
Tall stature, Glucose intolerance, Otitis media, Cryptorchidism, Increased body weight, Overgrowt... OMIM:117550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Pulmonary carcinoid tumor, Hype... ORPHA:363618
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Cholestasis, Obesity, Tubulointerstitial nephritis OMIM:616629
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 Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Decreased body weight, Pancreatitis,... OMIM:620371
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive OMIM:244450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Cholestasis, Hepatic steatosis, Hypokalemia, Eleva... OMIM:619573
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Dubowitz Syndrome
Hypocholesterolemia, Eczematoid dermatitis, Cryptorchidism, Otitis media OMIM:223370
Cushing Disease
Acne, Increased circulating cortisol level, Increased urinary cortisol level, Increased circulati... ORPHA:96253
Rett Syndrome
Growth delay, Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Mo... ORPHA:778
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hypertriglyceridemia, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular ... OMIM:619127
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidism, Failure to thrive,... ORPHA:398069
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... ORPHA:64
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Smith-Lemli-Opitz Syndrome
Precocious puberty, Cholestatic liver disease, Hypoalbuminemia, Failure to thrive, Eczematoid der... OMIM:270400
Chédiak-Higashi Syndrome
Periodontitis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Sk... ORPHA:167
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ... ORPHA:90790
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Generalized Pustular Psoriasis
Hypoalbuminemia, Cheilitis, Obesity, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustule... ORPHA:247353
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... ORPHA:99827
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis... ORPHA:251004
Visceral Myopathy 1
Pancreatitis OMIM:155310
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin, Short stature, Flexion contracture, Growth delay, Lipo... OMIM:614008
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin r... ORPHA:99829
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... ORPHA:3455
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hypoglycemia, Supernumerary nipple, Tall stature, Splenomegaly, Pancreatic islet-cel... ORPHA:373
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Hypopituitarism, Dec... ORPHA:90695
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Cyanosis, Severe failure to thrive, Weight loss, Pubertal d... ORPHA:740
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79444
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Tall stature, Adre... ORPHA:116
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Increased serum testoster... OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Periodontitis, Type I diabetes mellitus, Obesity OMIM:619269
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating thyroid-stimulating h... ORPHA:79318
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification OMIM:215140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance