Gene Summary

Name:
glucagon
Synonyms:
PPG,  GLP-1,  glucagon-like peptide I,  Glu

IMPC Data Collections

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.

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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 Gcg 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 Gcg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Delayed puberty, Decreased serum insulin-like growth factor 1,... OMIM:615961
Mody
Exocrine pancreatic insufficiency, Glycosuria, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Growth delay, Truncal obesity, Decreased serum insulin-like growth factor 1, ... ORPHA:140941
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Intrauterine growth retardation, Diabetes mellitus, Maturity-onset diabete... OMIM:613370
Type 1 Diabetes Mellitus
Polyuria, Hyperglycemia, Diabetes mellitus OMIM:222100
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Short stature, Abdominal obesity, Postnatal growth retardation, Decreased respon... OMIM:618160
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Delayed puberty, Hyperinsulinemia, O... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Delayed puberty, Hyperinsulinemia, O... ORPHA:71526
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic hypoplasia, Failur... OMIM:260370
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias, Diabetes mellitus OMIM:605231
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Increased hepatic glycogen content, Hepatomegaly, Pos... OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria, Hepatomegaly, Failure to thrive, Diabetes mellitus, Type I diabet... OMIM:560000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia, Failure to ... OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Obesity, Hypoplasia of penis, Short stature, Hypogonadism ORPHA:85274
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocalcinosis, Renal ... OMIM:616963
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Diabet... ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity ORPHA:71529
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Failure to thrive, Hyperechoge... OMIM:613845
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity, Hyperinsulinemia ORPHA:329249
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Neonatal hypoglycemia, Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, A... OMIM:130650
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypoplasia of penis, Truncal obesity, Failu... ORPHA:181393
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Abnormality of the kidney, Renal insufficiency, Hypogonadism OMIM:615987
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615988
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Blue Diaper Syndrome
Nephrocalcinosis, Recurrent hypoglycemia, Blue urine, Decreased circulating T4 level, Elevated ci... ORPHA:94086
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Polyuria, Renal insufficiency, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Severe postnatal growt... ORPHA:411590
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism, Abnormality of the kidney OMIM:615989
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Failure to thrive, Weight loss OMIM:143880
Mehmo Syndrome
Cryptorchidism, Micropenis, Obesity, Growth delay, Hypoplasia of penis, Diabetes mellitus ORPHA:85282
Leptin Receptor Deficiency
Obesity, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, S... OMIM:614963
Temple Syndrome
Small for gestational age, Cryptorchidism, Recurrent hypoglycemia, Obesity, Short stature, Precoc... ORPHA:254516
Laurence-Moon Syndrome
Cryptorchidism, Obesity, Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Displac... ORPHA:2377
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Cholestasis, Obesity, Adre... OMIM:609734
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity, Insulin resistance, Type II diabetes mellitus OMIM:615703
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hydronephrosis, Polyuria OMIM:304900
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Obesity, Diabetes mellitus, Decreased ... OMIM:610628
Nephronophthisis 3
Polyuria, Enuresis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Renal Fanconi... ORPHA:263455
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Obesity, Abnormality of the kidney, Renal dysplasia, Renal insufficie... OMIM:615993
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tol... ORPHA:2298
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Urinary retention, Recurrent hypoglycemia, Neoplasm of the liver, Abno... ORPHA:2126
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Pituitary prolactin cell adenoma, Recurrent hypoglycem... ORPHA:97279
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Small for gestational age, Delayed puberty, ... OMIM:300148
Nephronophthisis 11
Nephronophthisis, Polyuria, Growth delay, Tubular basement membrane disintegration, Renal tubular... OMIM:613550
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Small for gestational age, Diabetes mellitus, Hyperglycemia, Typ... OMIM:606176
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Obesity, Short stature, Type II diabetes me... ORPHA:3085
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Hypoplasia of penis, Eunuchoid habitus, Short stature,... ORPHA:2234
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... OMIM:256100
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Obesity, Stage 5 chronic kidney disease, Hypogonadism OMIM:615994
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Primary hyperparathyroidism, Hepatomegaly, Splenomegaly, Hyperphosphatu... OMIM:239200
Donohue Syndrome
Fasting hypoglycemia, Intrauterine growth retardation, Cholestasis, Hyperinsulinemia, Pancreatic ... OMIM:246200
Central Precocious Puberty
Proportionate short stature, Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarc... ORPHA:759
Perlman Syndrome
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis... ORPHA:2849
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hypoplasia of penis, Short stature ORPHA:3055
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Failure to thrive in infancy, Proteinuria, Polyuri... OMIM:219800
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypoplasia of penis, Type II diabetes mellitus, Abnormal testis morpho... ORPHA:791
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Nephronophthisis 4
Nephronophthisis, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Fasting hypoglycemia, Nephrocalcin... ORPHA:2088
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Intrauterine growth retardation, Polycystic ovarie... ORPHA:1227
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hyp... ORPHA:35878
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant di... OMIM:604367
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Temple Syndrome
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Overweight, Truncal o... OMIM:616222
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Polyuria, Megacystis, Short stature, Failure to thrive OMIM:304800
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Decrease... ORPHA:179494
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Large for gestational age, Hypoglycemia, Nephrocalcinosis, Proteinuria, Hepatomegaly,... OMIM:616026
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Failure to thrive, Short stature, Nephrogenic diabetes insipidus OMIM:125800
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Small for gestational age, Ketonuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Short stature, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Abnormal circulating hormone concentration, Hyperinsulinemia, Polycystic ovari... ORPHA:280356
Familial Renal Glucosuria
Glycosuria, Renal tubular dysfunction, Moderate postnatal growth retardation, Recurrent urinary t... ORPHA:69076
Hepatic Veno-Occlusive Disease
Renal insufficiency, Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Chronic kidney disease, Short... OMIM:615630
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Mitchell-Riley Syndrome
Absent gallbladder, Intrauterine growth retardation, Cholestasis, Pancreatic hypoplasia, Biliary ... OMIM:615710
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Weight loss, Adrenocortical carcinoma, Incre... ORPHA:1501
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Ketonuria, Failure to thrive, Short stature, Postprandial hyper... ORPHA:2089
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Enlarged polycystic ovaries, Increa... ORPHA:785
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Decreased glomerular filtration rate, Polyuria, Renal salt wasting, Failure to thrive, Hypernatri... OMIM:613090
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Polyuria, Enuresis, Overgrowth, Renal insufficiency, Impaired renal concentrati... OMIM:204690
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Acute kidney injury, Peritonitis, Abnormal glomerular v... ORPHA:567548
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Hyperglycemia, Truncal obesity OMIM:615986
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia, Bile duct proliferation, Increased hepatic glycogen content, ... OMIM:613027
17Q12 Microdeletion Syndrome
Cryptorchidism, Ureterocele, Multicystic kidney dysplasia, Short stature, Pancreatic aplasia, Dia... ORPHA:261265
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Obesity, Abnormality of the kidney, Hypogonadism OMIM:615982
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Small for gestational age, Hepatomegaly, Fail... ORPHA:79237
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Increased circulating renin level, Renal potassium wasting, Po... OMIM:607364
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Small for gestational age, Increased circulating renin level, Hypercalciuria, H... OMIM:601678
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Obesity, Precocious puberty, Postnatal growth retardation, Matur... ORPHA:254531
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Intrauterine growth retardation, Renal tubular dysfunction, Moderate albuminuria, Pan... ORPHA:99885
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Increased circulating renin level, Renal potassium wasting, Polyuria, Enuresis, Renal salt wastin... OMIM:612780
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Obesity, Truncal obes... ORPHA:96184
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hyperglycemia OMIM:609069
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism, Renal insufficiency OMIM:615996
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Leptin Deficiency Or Dysfunction
Micropenis, Obesity, Decreased serum leptin, Hypogonadism, Decreased testicular size OMIM:614962
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Cryptorchidism, Obesity, Mild short stature, Congenital hypothyr... OMIM:614613
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Renal agenesis, Hepatic steatosis, Hypothyroidism, H... ORPHA:93111
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal magnesium wasting, Renal potassium wasting, Polyuria OMIM:618314
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism, Low urinary cy... OMIM:603233
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Short stature, Obesity OMIM:264010
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Obesity, Short stature, Delayed puberty, Hypospadias, Hypogonadism ORPHA:141333
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abnormal response to corticotropin releasing hormone stimulation test, Macrono... ORPHA:189427
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increase... OMIM:615830
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Splenomegaly, Hyperinsulinemia ORPHA:66518
Short Stature, Dauber-Argente Type
Short stature, Fasting hyperinsulinemia, Postnatal growth retardation OMIM:619489
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Decreased serum testo... OMIM:300869
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Matthew-Wood Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Renal hypoplasia, Abnormal spl... ORPHA:2470
Helix Syndrome
Nephrolithiasis, Polyuria, Renal insufficiency, Hyperparathyroidism, Hypocalciuria OMIM:617671
Gitelman Syndrome
Increased circulating renin level, Polyuria, Enuresis, Growth delay, Nocturia, Failure to thrive,... OMIM:263800
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Nephrolithiasis, Abdominal obesity, Testicular neoplasm, Increased urinary cor... ORPHA:189439
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Renal tubular acidosis, Fasting hypoglycemia, Polycystic ovaries, Recurrent... ORPHA:79240
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Unilateral renal agenesis, Stage 5 chronic kidney ... OMIM:137920
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly OMIM:601165
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Intrauterine growth retardation, Sev... ORPHA:73272
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Growth delay, Congenital hypothyr... OMIM:614450
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Tall stature, Hypopituitarism, ... ORPHA:300373
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hypothyroidism, Hyperechogenic pancreas, Mild postnatal growth... ORPHA:456312
Trisomy 5P
Short stature, Obesity, Hypoplasia of penis, Renal hypoplasia/aplasia ORPHA:1742
Tropical Pancreatitis
Weight loss, Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic ... ORPHA:103918
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Short stature, Obesity OMIM:618124
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Obesity, Tubulointerstitial nephritis, Stage 5 chronic kidney dise... OMIM:616629
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Renal tubular acidosis, Cholestasis, Polyc... ORPHA:264580
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Increased circulating renin level OMIM:300971
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Tubulointerstitial nephr... OMIM:203800
Congenital Generalized Lipodystrophy
Hepatic steatosis, Precocious puberty in females, Insulin resistance, Polycystic ovaries, Hyperin... ORPHA:528
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Short stature, Obesity, Hypogonadism ORPHA:2233
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Adrenocortical adenoma OMIM:248100
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Subaortic Stenosis-Short Stature Syndrome
Short stature, Obesity, Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Small for gestational age, Increased circulating renin level, Hypercalciuria, H... OMIM:241200
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis, Insulin resistance, Small for gestational age, Polyuria, Failure to thriv... OMIM:606721
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegaly, Cholangiocarcin... ORPHA:465508
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia OMIM:600955
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Growth delay, Increased circulating prolactin concentration, D... ORPHA:99832
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Portal hypertension, Severe postnatal growth retardation, Chole... ORPHA:440713
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia OMIM:602579
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Intrauterine growth retardation, Cryptorchidism... ORPHA:813
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Obesity, Nephroblastoma, Nephropathy, Renal insufficiency, Streak ovary, Hypospadias OMIM:194072
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Nephrocalcinosis, Insulin resistance... ORPHA:769
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Intrauterine growth retardation, Cholestasis, Pancreatic cysts, ... OMIM:610199
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Cirrhosis ORPHA:363400
Teratoma, Pineal
Polyuria OMIM:273120
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Obesity, Precocious puberty, Intrauterine growth retardation ORPHA:254525
Wagr Syndrome
Cryptorchidism, Short stature, Obesity, Displacement of the urethral meatus ORPHA:893
Yellow Fever
Acute pancreatitis, Acute kidney injury, Anuria, Pancreatic hyperplasia, Jaundice, Renal insuffic... ORPHA:99829
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemic seizures, Intrauterine growth retardation,... ORPHA:71212
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Obesity, Pituitary adenoma, Abdominal obesity, Glucose intolerance, Impaired glu... OMIM:219090
Short Syndrome
Birth length less than 3rd percentile, Intrauterine growth retardation, Small for gestational age... OMIM:269880
Mpi-Cdg
Hypothyroidism, Portal hypertension, Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hyperinsu... ORPHA:79319
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Pseudopseudohypoparathyroidism
Short stature, Obesity, Pseudohypoparathyroidism OMIM:612463
Bardet-Biedl Syndrome 8
Renal dysplasia, Obesity, Hypospadias, Hypogonadism OMIM:615985
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Fasting hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Hypoketotic hypoglycemia ORPHA:159
9Q31.1Q31.3 Microdeletion Syndrome
Short stature, Overweight, Renovascular hypertension, Type II diabetes mellitus ORPHA:401923
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Sotos Syndrome
Neonatal hypoglycemia, Cryptorchidism, Abnormality of the kidney, Prolonged neonatal jaundice, Ne... OMIM:117550
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypothyroidism, Polyuria, Renal dysplasia OMIM:618183
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Short stature, Elevated circulating parathyroi... OMIM:612462
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Insulin resistance, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:79086
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Nephrolithiasis, Hematuria, Renal insufficiency OMIM:614723
Systemic Capillary Leak Syndrome
Oliguria, Abnormal renal tubule morphology, Pancreatitis, Renal insufficiency, Weight loss ORPHA:188
Aromatase Deficiency
Hepatic steatosis, Insulin resistance, Tall stature, Cryptorchidism, Obesity, Growth delay, Eunuc... ORPHA:91
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Bardet-Biedl Syndrome
Nephrotic syndrome, Cryptorchidism, Obesity, Hypoplasia of penis, Multicystic kidney dysplasia, S... ORPHA:110
Atkin-Flaitz Syndrome
Short stature, Obesity, Macroorchidism ORPHA:1193
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Delayed pu... ORPHA:2235
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Zttk Syndrome
Unilateral renal agenesis, Absent gallbladder, Horseshoe kidney, Intrauterine growth retardation,... OMIM:617140
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Obesity, Hepatomegaly, Diabetes mellitus, ... ORPHA:412
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Central hypothy... ORPHA:508
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Proportionate short stature, Delayed p... ORPHA:54595
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the thyroid gland, Obesity, Diabetes mellitus, Abnormality of the ... ORPHA:77296
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Cryptorchidism, Short stature, Obesity OMIM:618822
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Short stature, Elevated circulating parathyroi... OMIM:103580
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly, Insuli... OMIM:151660
Septo-Optic Dysplasia Spectrum
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pituitary hypoplasia... ORPHA:3157
Martinez-Frias Syndrome
Intrauterine growth retardation, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annula... OMIM:601346
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Insulin resistance, Abnormality of the ovary, Micropenis, Obesity, ... OMIM:209900
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Intrauterine growth retardation, Small for gestational age, Pancreatic aplasi... ORPHA:556955
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Failure to thriv... ORPHA:905
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Perineal hypospadias, Cryptorchidism, Obesity, Short stature, Male hyp... ORPHA:261529
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperglycemi... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Nephrolithiasis, Polycystic ovaries, Hyperinsulinemia, Spl... OMIM:608594
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:98754
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Proteinuria, Obesity, Chronic kidney disease, Abnormality of the kidney, Vesicour... ORPHA:261222
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Congenital hypothyroidism, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... ORPHA:556037
Beta-Ketothiolase Deficiency
Hypoglycemia, Hepatomegaly, Ketonuria, Hyperglycemia, Weight loss ORPHA:134
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:98793
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Hepatic steatosis, Insulin resistance, Severe short stature, Elev... OMIM:617253
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Monosomy 13Q34
Fetal pyelectasis, Hepatic steatosis, Insulin resistance, Obesity, Growth delay ORPHA:96168
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Obesity, Hypogonadism OMIM:601794
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:177904
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Short stature, Abnormality of the urinary system, Increased bod... OMIM:182290
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:177901
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Obesity, Hypogonadism ORPHA:363741
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Hypoglycem... ORPHA:91355
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Postnatal growth retar... ORPHA:2457
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hepatic steatosis, Nephrolithiasis, Polycystic ovaries, Hyperinsulinemia, Spl... OMIM:269700
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormality of the ovary, Increased serum testosterone level, Obesity, Short stature ORPHA:247768
Cholera
Hypoglycemia, Abnormality of renal excretion, Decreased urine output, Acute kidney injury ORPHA:173
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Cryptorchidism, Micropenis, Fa... ORPHA:398069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Perrault Syndrome 4
Obesity, Decreased serum estradiol, Premature ovarian insufficiency, Increased circulating gonado... OMIM:615300
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria OMIM:612926
Macrocephaly/Autism Syndrome
Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:398073
Microscopic Polyangiitis
Oliguria, Hematuria, Peritonitis, Pancreatitis, Glomerulopathy, Renal insufficiency ORPHA:727
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Obesity, Growth delay OMIM:600122
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Decreased urine output, Acute kidney injury, Anuria, Diabetes mellitus, Pancreatitis, N... ORPHA:544482
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Intrauterine growth retardation, Ureteral duplication, Pancreatic... OMIM:600001
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia, Left ventricular hypertrophy ORPHA:90065
Distal Monosomy 12Q
Unilateral cryptorchidism, Ectopic kidney, Congenital hypertrophy of left ventricle, Failure to t... ORPHA:96149
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal penis m... ORPHA:457059
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Obesity, Growth delay, Precocious puberty, Proportionate sh... OMIM:619269
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Failure to t... OMIM:613327
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Intrauterine growth retardation, Cryptorchidism, Obesity, Mild short st... ORPHA:280651
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Hypothyroidism, Hypoglycemia, Adrenocortical c... ORPHA:116
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Postnatal growth retardation, Small for gestational age, Overgrowth ORPHA:254534
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Small for gestational age, Ur... ORPHA:2255
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Recurrent myoglobinuria, Dark urine, Renal insufficiency, Exercise... ORPHA:99845
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Obesity, Macroscopic hematuria, Short stature, Membranoproliferativ... ORPHA:251004
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss, Central hypothyroidism ORPHA:514
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Decreased serum testosterone conce... ORPHA:3464
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Horseshoe kidney, Increased body weight OMIM:300860
Sepsis In Premature Infants
Oliguria, Decreased body weight, Small for gestational age, Splenomegaly, Hepatomegaly, Jaundice,... ORPHA:90051
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Micropenis, Pancreatic hypoplasia, Splenomegaly, Hepatomegaly, Hypergonadotro... OMIM:602782
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... ORPHA:293987
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine, Hyperinsulinemia, Nocturia ORPHA:230
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Obesity, Hepatomegaly, Jaundice, Overweight, Hypoketotic hypoglycemia ORPHA:26793
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Truncal obesity, Paradoxi... ORPHA:96253
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Decreased body weight, Hematuria, Acute kidney inju... ORPHA:340
Microcephalic Primordial Dwarfism, Dauber Type
Severe postnatal growth retardation, Obesity, Severe intrauterine growth retardation, Short statu... ORPHA:319675
Pyruvate Carboxylase Deficiency
Hypoglycemia, Lacticaciduria, Growth delay, Hepatomegaly, Failure to thrive, Hyperglycemia ORPHA:3008
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Urinary retent... ORPHA:79102
Duplication Of Urethra
Bladder duplication, Penile hypospadias, Chordee, Unilateral renal hypoplasia, Dysuria, Micropeni... ORPHA:237
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Renal neoplasm, Hyperinsulinemia, Delayed p... ORPHA:79474
Perlman Syndrome
Large for gestational age, Nephrogenic rest, Renal hamartoma, Cryptorchidism, Pancreatic islet-ce... OMIM:267000
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Acute kidney injury ORPHA:542323
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Obesity, Acute hepatic steatosis, Hepatit... ORPHA:209902
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Renal Tubular Dysgenesis
Anuria, Renotubular dysgenesis, Abnormality of the urinary system OMIM:267430
Gaisböck Syndrome
Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Obesity, Overweight, Hypernat... ORPHA:90041
Lassa Fever
Oliguria, Jaundice ORPHA:99824
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Pancreatic hypoplasia, Hepatomegaly, Growth d... ORPHA:811
Dextrocardia
Abnormality of the ureter, Pancreatic hypoplasia, Abnormality of the spleen, Abnormality of abdom... ORPHA:1666
Ethylene Glycol Poisoning
Renal tubular dysfunction, Decreased urine output, Hematuria, Renal insufficiency, Renal tubular ... ORPHA:31826
Bardet-Biedl Syndrome 20
Proteinuria, Micropenis, Obesity, Male hypogonadism, Bilateral cryptorchidism, Pancreatitis OMIM:619471
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Horseshoe kidney, Obesity, Hyperglycemia, Short stature, Decreased response to gr... ORPHA:444077
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Peritonitis, Hemoglobinuria, Pancreatitis ORPHA:90038
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Peritonitis, Megacystis, Fetal megacystis OMIM:619351
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuffi... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuffi... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuffi... ORPHA:99228
Monosomy X
Biliary cirrhosis, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuffi... ORPHA:99226
Xq21 Microdeletion Syndrome
Obesity, Anterior hypopituitarism, Growth delay, Pituitary hypothyroidism, Postnatal growth retar... ORPHA:1435
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Dend Syndrome
Hyperglycemia ORPHA:79134
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Decreased renal tubular phospha... OMIM:211900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Acute kidney injury OMIM:235400
Lujo Hemorrhagic Fever
Oliguria, Renal insufficiency, Microscopic hematuria, Fulminant hepatitis ORPHA:319213
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Acute kidney injury, Ketonuria, Hyperglycemia ORPHA:466677
45,X/46,Xy Mixed Gonadal Dysgenesis
Unilateral cryptorchidism, Hypothyroidism, Horseshoe kidney, Chordee, Cryptorchidism, Micropenis,... ORPHA:1772
Carney Complex
Testicular adrenal rest tumor, Leydig cell neoplasia, Increased circulating prolactin concentrati... ORPHA:1359
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Alström Syndrome
Hyoplasia of the Leydig cells, Recurrent cystitis, Functional abnormality of the bladder, Dysuria... ORPHA:64
Autosomal Recessive Hypophosphatemic Rickets
Growth delay, Hyperphosphaturia, Short stature, Abnormality of renal excretion, Renal phosphate w... ORPHA:289176
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Pancreatic hypop... ORPHA:83617
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Increased body weight, Proteinuria ORPHA:244242
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Decrease... ORPHA:273
Cardiogenic Shock
Oliguria ORPHA:97292
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury ORPHA:466650
Pmm2-Cdg
Abnormal renal tubule morphology, Hypogonadotropic hypogonadism, Multiple renal cysts, Nephrotic ... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gcg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gcg.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Glucagon Couples Hepatic Amino Acid Catabolism to mTOR-Dependent Regulation of α-Cell Mass. Cell reports (July 2015) Gcgrtm1(KOMP)Vlcg 26166562

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MGI Allele Allele Type Produced
Gcgem2(IMPC)H Exon Deletion Mice
Gcgtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gcgtm285008(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gcgem1(IMPC)H Indel Mice
Gcgtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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