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
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Intrauterine growth retardation, Small for gestational age, Hyperglycemia, Dia... ORPHA:99886
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholesterolemia, Diab... OMIM:610947
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Abnormal... ORPHA:314811
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Obesity, Child... ORPHA:71529
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... OMIM:608600
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... OMIM:606721
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Growth delay, Polyphagia, Failure to thr... ORPHA:71526
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Growth delay, Decreased serum insulin-like growth factor 1, Short stature, Delayed ... ORPHA:314802
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... OMIM:616222
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, ... OMIM:604367
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Pituitary dwarfism, Severe short stature, Impaired growth-hormone response to insul... OMIM:262400
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... ORPHA:69663
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypoglycemia, Severe postnatal growth retardation, Short stature, Pituitar... OMIM:262700
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:324575
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic... ORPHA:79085
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed p... OMIM:616033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Cryptorchid... OMIM:307030
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... ORPHA:412
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly,... ORPHA:444490
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Cirrhosis, Hyperc... OMIM:605814
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia, Short stature ORPHA:329249
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Polycystic ov... ORPHA:528
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c... ORPHA:435660
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... OMIM:167800
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Short stature, Hypogonadism, Postnatal growth retardation OMIM:616113
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Elevated circulating C-react... ORPHA:676
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Hyper... OMIM:151660
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79083
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Polycystic ovaries, Pancreatitis, ... ORPHA:90970
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I... OMIM:300635
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concen... OMIM:616834
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Hyperinsuli... ORPHA:363400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatos... ORPHA:2348
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperbilirubinemia,... OMIM:609734
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... ORPHA:453533
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Hypoalbuminemia OMIM:618805
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Hypertrigly... OMIM:615381
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Maple Syrup Urine Disease
Elevated plasma branched chain amino acids, Elevated circulating L-alloisoleucine concentration, ... OMIM:248600
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Failure to thrive, Diabetes mellitus OMIM:609069
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentration, Skin rash, Hy... OMIM:603552
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Blue Diaper Syndrome
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... ORPHA:94086
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Diabetic ketoacidosis, Pancreatitis, Abnormal blood gas level ORPHA:70578
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypertriglyceridemia, Hypothyroidism, Hypoalbu... OMIM:617575
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Failure to thrive, Pancreatitis, Hyperammonemia, Splenomegaly ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601165
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Propionic Acidemia
Hepatomegaly, Eczema, Hypoglycemia, Failure to thrive, Pancreatitis, Hyperglycinemia, Hyperammonemia OMIM:606054
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Chylous Ascites
Pancreatitis ORPHA:1160
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Hurthle cell thyroid adenoma, Pancreatic adenocarcinoma, Re... OMIM:145001
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hepatomegaly, Hypocholesterolemia, Steatorrhea OMIM:266510
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... ORPHA:264580
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased hepatic e... OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic acidemia, Failure to thrive, Pancreatit... OMIM:251000
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Hyperlysinemia, Failure to thrive, Pancreatitis, Decreased plasma carnitine, Abnormal circulating... ORPHA:431361
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin re... ORPHA:91
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neonatal hyperbil... ORPHA:73272
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... ORPHA:90301
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... OMIM:608612
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Gout, Pancreatitis, Hyperur... OMIM:232200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceride... OMIM:613101
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight loss, Glycosuria, Neonatal insuli... ORPHA:99885
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypothyroidism, Hyp... OMIM:619013
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Gout, Pancreatitis, Hyperur... OMIM:232220
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... ORPHA:681
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity, Hyper... ORPHA:3085
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Protoporphyria, Erythropoietic, 1
Eczema, Cholelithiasis, Hypertriglyceridemia OMIM:177000
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Insulin resistance, Polycystic ovaries, Pa... ORPHA:280365
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Cryptorchidism OMIM:175700
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concent... OMIM:613327
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Acne, Diabet... OMIM:615830
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... OMIM:248370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age, Hypothyroidism OMIM:610883
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type II diabetes mellitus, Pancreatitis, Hypogonadism, Iridocyclitis, Type I diabetes mellitus, H... ORPHA:412057
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Short Syndrome
Insulin-resistant diabetes mellitus, Glucose intolerance, Small for gestational age, Hyperglycemia OMIM:269880
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Growth delay OMIM:616111
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Obesity, Prec... ORPHA:254531
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Short stature, Small for gestational age, Neonatal hypoglycemia, Postnatal growth r... ORPHA:231140
Whipple Disease
Myocarditis, Hepatomegaly, Cachexia, Hyponatremia, Pericarditis, Infectious encephalitis, Insulin... ORPHA:3452
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Adrenocorticotropic hormone deficienc... ORPHA:1501
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus... ORPHA:77296
Acute Lung Injury
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Acute pancreatitis, Elevate... ORPHA:178320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Hyperhomocystinemia, Tall stature, Failure to thrive, Pancreatitis... OMIM:236200
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Increased circulating farnesol concentration, ... OMIM:618156
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammonemia, Hyperuricemia ORPHA:134
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Central Precocious Puberty
Overgrowth, Acne, Increased circulating gonadotropin level, Isosexual precocious puberty, Prematu... ORPHA:759
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hypoglycemia, Primary adrenal insufficiency, Failure to thrive OMIM:617872
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, S... OMIM:608594
Placental Insufficiency
Hypoxemia, Small for gestational age, Insulin resistance ORPHA:439167
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abet... ORPHA:96180
Perlman Syndrome
Hepatomegaly, Tall stature, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine... ORPHA:565612
Smith-Magenis Syndrome
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Abnormality of the thyroid gland OMIM:182290
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, S... OMIM:269700
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Male hypogonadism, Obesity, Decreased response to growth... OMIM:300148
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Premature adrenarche, Recurrent hypog... ORPHA:813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia, Small for gestational age ORPHA:231147
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Increased body weight, Jaundice ORPHA:890
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Infectious encephalitis, Hyp... OMIM:267700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... OMIM:260480
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Leptin Receptor Deficiency
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... OMIM:614963
Cach Syndrome
Nonketotic hyperglycinemia, Pancreatitis, Optic neuritis, Hepatosplenomegaly, Premature ovarian i... ORPHA:135
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism, Obesity OMIM:619471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... ORPHA:96184
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Familial Multiple Lipomatosis
Overgrowth, Hyperlipidemia, Insulin resistance ORPHA:199276
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Increased circulating ACTH level, Failure to thrive, Decreased circulatin... OMIM:202200
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Rhinitis, Elevated circulating creatinine concentration, Increa... ORPHA:230
Gaisböck Syndrome
Hyperproteinemia, Cholecystitis, Obesity, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mel... ORPHA:90041
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Failure to... ORPHA:3008
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Pancreatitis, Hyperparathyroidism, Hypermagnesemia, Parathyroid adenoma OMIM:145980
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Cryptorchidism, Obe... ORPHA:254516
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Hypohid... ORPHA:633
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hypertension, Postprandial... ORPHA:440713
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Infectious encephalitis, Hyperlipidemia, Hyperglycemia, Pre... ORPHA:293987
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Failure to thrive, Cryptorch... OMIM:614736
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Short stature, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hy... OMIM:262600
Mehmo Syndrome
Obesity, Cryptorchidism, Diabetes mellitus ORPHA:85282
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Obesity, Insulin resistance ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age OMIM:614702
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... OMIM:616541
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Cryptorchidism, Decreased testicular size OMIM:610628
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... ORPHA:567548
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Ne... OMIM:209900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Neoplasm of the pancreas, Pancreatitis, Elevated carcinoma antigen... ORPHA:370348
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Acne, Obesity, Biliary tract... ORPHA:3191
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hypo... OMIM:602579
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, E... ORPHA:26791
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Acne, Absence of ... ORPHA:785
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism, Pancreatitis OMIM:145981
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... ORPHA:79319
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... ORPHA:79102
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancre... ORPHA:549
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Gout, Hepatoblastoma, Hyper... OMIM:232240
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Hypocholesterolemia, Hepatic ... OMIM:212065
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Weight loss, Art... ORPHA:31205
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... OMIM:603233
2P21 Microdeletion Syndrome
Hypogonadism, Hypoglycemia, Growth delay, Failure to thrive ORPHA:163693
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Increased inflammatory response, Increased circulating fer... ORPHA:158061
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Arthritis, Splenomegaly, Skin... OMIM:617591
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... ORPHA:98908
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Small for gestational age, Hyperlipidemia, Failure to thrive, ... ORPHA:1830
Systemic Capillary Leak Syndrome
Myocarditis, Weight loss, Pericarditis, Pancreatitis ORPHA:188
Leprechaunism
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Fail... ORPHA:508
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Cryptorchidism, Type II diabetes mellitus ORPHA:2377
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Eczema, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Smith-Magenis Syndrome
Failure to thrive in infancy, Chronic otitis media, Hypercholesterolemia, Hypertriglyceridemia, H... ORPHA:819
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Intrauterine growth retardation, Hypoglycemia, Dysphagia OMIM:618958
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... ORPHA:99832
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Hypoglycemia OMIM:617156
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypoalbuminemia, Infectious encephalitis, Erythroderma, Splenomegaly, Cholestatic l... ORPHA:540
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity... OMIM:614450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Infectious encephalitis, Failure to thrive, Increase... OMIM:603553
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Weight loss, Hyperammonemia, Recurrent hypoglyce... ORPHA:20
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Infectious encephalitis, Lymphadenitis, Osteomyel... ORPHA:2552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abn... ORPHA:71212
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperglycinemia, Hyperammonemia, Increased circulating ferritin con... ORPHA:470
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, ... OMIM:619487
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia, Splenomegaly OMIM:618398
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly, Hydrocele testis OMIM:618810
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Diabetes insipidus, Short stature, Failure to thrive, Abnormality of the hypothalam... ORPHA:95496
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Tubulointerstitial nephritis, Primary hyperaldoster... ORPHA:358
Tyrosinemia, Type I
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Spleno... OMIM:276700
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level OMIM:607398
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... ORPHA:14
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increased inflammato... ORPHA:727
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia OMIM:600740
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Short stature ORPHA:66518
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Parathyroid car... ORPHA:143
X-Linked Acrogigantism
Adrenocorticotropic hormone deficiency, Enlarged pituitary gland, Diabetes insipidus, Increased s... ORPHA:300373
Tenorio Syndrome
Keratoconjunctivitis sicca, Hypoglycemia, Pneumonia, Stomatitis, Hypoinsulinemia OMIM:616260
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Failure to thrive, Chronic rhinitis, ... ORPHA:79324
Short Syndrome
Weight loss, Diabetes mellitus, Insulin resistance ORPHA:3163
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Delayed puberty, Hyperlipidemia, Insulin resistance ORPHA:90154
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
H Syndrome
Psoriasiform dermatitis, Bronchiectasis, Chronic rhinitis, Hypogonadism, Hepatosplenomegaly, Diab... ORPHA:168569
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Hypoglycemia, Dysphagia OMIM:618253
Halothane Hepatitis
Viral hepatitis, Hepatitis, Obesity, Jaundice OMIM:234350
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Hyperlipidemia, Insulin resistance ORPHA:90153
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypoglycemia, Growth delay, Hypogonadotropic hypogonadism, Pituitary hy... ORPHA:95619
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Transient hyperlipidemia ORPHA:156
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Premature... ORPHA:96182
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Perianal abscess, Recur... OMIM:618935
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Recurrent otitis media, Decreased serum iron, Recurrent skin infections, Diabe... ORPHA:391372
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Congeni... ORPHA:480520
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Elevated circulating C-reactive protein concentration, Inflammatory... ORPHA:449395
Scorpion Envenomation
Myocarditis, Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentratio... ORPHA:466677
Atypical Werner Syndrome
Ovarian neoplasm, Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-res... ORPHA:79474
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Cryptorchidism, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridemia, Hyp... OMIM:619313
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... ORPHA:98855
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Cachexia, Hyponatremia, Hepatic fibrosis, Failure... ORPHA:275761
Xp21 Deletion Syndrome
Adrenal insufficiency, Elevated circulating creatine kinase concentration, Hypogonadotropic hypog... ORPHA:261476
Cystic Fibrosis
Hepatomegaly, Bronchiectasis, Failure to thrive, Chronic sinusitis, Pancreatitis, Cirrhosis, Hepa... OMIM:219700
Hyperparathyroidism-Jaw Tumor Syndrome
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Pancreatic aden... ORPHA:99880
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Werner Syndrome
Ovarian neoplasm, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Slender build... ORPHA:902
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Failure to thrive OMIM:212140
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Elevated circulating crea... ORPHA:98853
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Glycosuria, Absent gallbladder, Biliary ... OMIM:600001
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Pancreatitis, Truncal obesity, Splenomegaly, Hyperammonemia, Inc... OMIM:222700
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Melas
Hypoparathyroidism, Type II diabetes mellitus, Failure to thrive, Hypogonadotropic hypogonadism, ... ORPHA:550
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia... OMIM:618183
Bloom Syndrome
Pneumonia, Insulin resistance, Cheilitis, Rhinitis, Small for gestational age, Uveitis, Otitis me... ORPHA:125
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:612462
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Insulin-resistant diabetes mellitus, Hepatomegaly, Type I diabetes mellitus, Reduced pancreatic b... OMIM:226980
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism OMIM:615982
Multiple Endocrine Neoplasia, Type I
Adrenocortical adenoma, Hypercalcemia, Hypoglycemia, Adenoma sebaceum, Increased circulating cort... OMIM:131100
Zygomycosis
Sinusitis, Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Splenic abs... ORPHA:73263
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Hypoglycemia, Small for gestational age, Postnatal growth retard... ORPHA:397590
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis, Elevated circulating C-reactive pro... ORPHA:449427
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly, Cirrhosis,... ORPHA:1414
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Granulomatosis With Polyangiitis
Sinusitis, Pericarditis, Diabetes insipidus, Prostatitis, Chronic otitis media, Weight loss, Abno... ORPHA:900
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyponatremia, Hyperkalemia, Pneumonia, Acute colitis, Pancreatitis, Septic arthritis... ORPHA:544482
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Palmoplantar hyperhidrosis, Hypertriglyceridemia OMIM:610644
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Pn... ORPHA:26793
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesit... OMIM:219090
Cortisone Reductase Deficiency 1
Obesity, Acne, Precocious puberty OMIM:604931
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... ORPHA:77293
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Episcleritis, Failure to thrive, Impaired ... OMIM:256040
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... OMIM:103580
Marburg Hemorrhagic Fever
Hyperamylasemia, Pericarditis, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase co... ORPHA:99826
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia, Small for gestational age, Hypoamylasemia, Absent gallbladder, Pancreatic aplasia, Red... ORPHA:556955
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Acute colitis, Elevated ... ORPHA:90038
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... ORPHA:91355
Classical-Like Ehlers-Danlos Syndrome Type 2
Keratoconjunctivitis sicca, Periodontitis, Diabetes mellitus, Hypertriglyceridemia, Cryptorchidism ORPHA:536532
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia OMIM:256300
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Alagille Syndrome 1
Hepatocellular carcinoma, Failure to thrive, Papillary thyroid carcinoma, Cirrhosis, Hypercholest... OMIM:118450
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Hypertriglyceridemia, Obesity, Precocious puberty ORPHA:369837
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Retroperitoneal fibro... ORPHA:449563
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Abnormal testis morphology ORPHA:2233
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Pancreatitis, Cresce... ORPHA:93126
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... ORPHA:226313
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Ebola Hemorrhagic Fever
Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Abno... ORPHA:228123
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Pancreatitis, Infantile hypercalcemia, Renal hypophosphatem... ORPHA:405
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Skin rash, Orchitis, Osteoarthr... ORPHA:342
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia, Large for gestational age OMIM:619075
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... ORPHA:3464
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tubulointerstitial nephriti... ORPHA:157
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnormal circulating f... ORPHA:567983
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Hypogonadism, Cholestasis, Obesity OMIM:616629
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, As... ORPHA:444077
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Failure... ORPHA:3260
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Hyperproteinemia, Hepatomegaly, Splenomegaly, Increased circulati... ORPHA:158048
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Pulmonary carcinoid tumor, Hyper... ORPHA:363618
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Intrauterine growth retardation, Short stature, Failure to thrive, Hypothyroidism, ... OMIM:618005
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism OMIM:612463
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Biliary t... ORPHA:733
Hypoadrenocorticism, Familial
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Premature adrenarche, Hypogonadotr... ORPHA:398079
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98793
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Stevens-Johnson Syndrome
Weight loss, Pancreatitis, Conjunctivitis ORPHA:36426
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177901
Toxic Epidermal Necrolysis
Weight loss, Pancreatitis, Conjunctivitis ORPHA:537
Nestor-Guillermo Progeria Syndrome
Growth delay, Short stature, Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion cont... OMIM:614008
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis, Hypothyroidism, Obesity, Cryptorchidism, Precocious puberty ORPHA:254346
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia OMIM:210200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tubulointerstitial nephriti... ORPHA:228308
Smith-Lemli-Opitz Syndrome
Eczema, Elevated 7-dehydrocholesterol, Failure to thrive, Hypocholesterolemia, Recurrent otitis m... OMIM:270400
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... ORPHA:3157
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Glucose intolerance, Macrovesicular hepatic steatosis, Elevated hemoglobin A1c, Hyp... OMIM:619127
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly ORPHA:79477
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic ... ORPHA:226307
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Splenomegaly, Periodontitis, Increased circulating ferritin concen... ORPHA:167
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Failure to thrive, Abnor... ORPHA:90790
Alström Syndrome
Hyperlipidemia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concent... ORPHA:64
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Type II diabetes mellitus, Xerostomia, Failure to thrive, Absence of pube... ORPHA:398069
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:398073
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Small for gestational age, H... OMIM:619573
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hyperlipidemia, Hypogonadotropic hypogonadism, Elev... OMIM:241080
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Short stature, Po... OMIM:176270
Cushing Disease
Adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortisol level, Impa... ORPHA:96253
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... OMIM:137920
Perrault Syndrome 4
Disproportionate tall stature, Hypoplasia of the ovary, Decreased serum estradiol, Increased circ... OMIM:615300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hypoglycemia, Failure to thrive, Weight loss, Decreased circulating ACTH leve... ORPHA:199299
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Cryptorchidism, Large for gestational age OMIM:267000
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Pseudohy... ORPHA:280651
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Hypoglycemia, Failure to thrive,... ORPHA:95409
Crimean-Congo Hemorrhagic Fever
Myocarditis, Conjunctivitis, Adrenal insufficiency, Hepatomegaly, Inappropriate antidiuretic horm... ORPHA:99827
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hypoglycemia... ORPHA:85138
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Splenomegaly OMIM:605309
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Visceral Myopathy 1
Pancreatitis OMIM:155310
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Obesity, ... ORPHA:251004
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Type II diabetes mellitus, Synovitis, Failure to thrive, Hypo... ORPHA:3455
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Nephritis, Hepatic necrosis, Fulminant hepatiti... ORPHA:2442
Müllerian Aplasia And Hyperandrogenism