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Gene: Gcg MGI:95674

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Gcgem1(IMPC)H HOM   Early adult 0.00
decreased locomotor activity Gcgem1(IMPC)H HOM Early adult 1.04×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Insulin resistance, Growth delay, Truncal obesity, ... ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal ... ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71526
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab... OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona... ORPHA:453533
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Short stature, Obesity ORPHA:329249
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy... OMIM:143880
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Postnatal growth retardation, Increased... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Moderate postnatal growth retardation, Ab... ORPHA:69076
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Hyperinsuli... ORPHA:276575
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Severe postnatal growth retardation, G... ORPHA:411590
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat... OMIM:274300
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... OMIM:616963
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity ORPHA:71529
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Neonatal hypoglycemia, Cardiomegaly, Cry... OMIM:130650
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bardet-Biedl Syndrome 11
Hypogonadism, Abnormality of the kidney, Obesity OMIM:615988
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant dia... OMIM:262190
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... OMIM:613845
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Obesity OMIM:615995
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar... OMIM:606176
Bardet-Biedl Syndrome 14
Renal insufficiency, Obesity OMIM:615991
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Congenital hepatic fibro... ORPHA:2377
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... OMIM:615993
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Obesity OMIM:615703
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Growth delay, Micropenis ORPHA:85282
Leptin Receptor Deficiency
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Hypergon... OMIM:614963
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Short stature, Obesity ORPHA:369873
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Re... ORPHA:263455
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia... ORPHA:2849
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycys... ORPHA:3085
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... ORPHA:35878
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis OMIM:615994
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Hepat... OMIM:219800
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Donohue Syndrome
Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovar... OMIM:246200
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Short stature, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Short stature, Hypoglycemia, Lar... OMIM:616026
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Failure to thrive, Diabetes insipidus OMIM:304800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Failure to thrive OMIM:125800
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased body weight, Jaundice ORPHA:890
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance... ORPHA:2088
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Short stature, Small for gestational age, Cryptorchidism, Chronic... ORPHA:97362
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Short stature, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Ob... OMIM:615630
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... OMIM:204690
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Diabetes mellitus, Renal hypopl... ORPHA:261265
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure t... ORPHA:2089
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty OMIM:616033
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... ORPHA:254531
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting OMIM:618314
Bardet-Biedl Syndrome 9
Truncal obesity, Renal insufficiency, Obesity, Hyperglycemia OMIM:615986
Glycogen Storage Disease Ixc
Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct p... OMIM:613027
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Short stature, Polyuria, Small for gestational age, Renal ... OMIM:601678
Galactokinase Deficiency
Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth ... ORPHA:96184
Temple Syndrome
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Overweight, Crypt... OMIM:616222
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Polyuria, Renal salt wasting, Enuresis, Hyperaldosteronism, Hypocalciuria, Increas... OMIM:612780
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... OMIM:603233
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren... OMIM:243910
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia, Short stature ORPHA:66518
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria OMIM:617671
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormal ... ORPHA:2470
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypocalciuria, Increased circulating r... OMIM:263800
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature OMIM:619489
Combined Oxidative Phosphorylation Deficiency 54
Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Polyendocrine-Polyneuropathy Syndrome
Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Postna... OMIM:616113
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
X-Linked Acrogigantism
Enlarged pituitary gland, Tall stature, Increased body mass index, Decreased thyroid-stimulating ... ORPHA:300373
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Ketotic hypoglycemia, Postnatal growth retardation, Splenomegaly, He... ORPHA:79240
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hy... ORPHA:456312
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, Obesity, Renal cyst OMIM:605231
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Mild short st... OMIM:614613
Trisomy 5P
Hypoplasia of penis, Short stature, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancreatic hypoplasia, H... OMIM:609069
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Alstrom Syndrome
Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Short stature, Decreased respon... OMIM:203800
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria OMIM:300971
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Hepatocellular adenoma, Cholestasis, Pol... ORPHA:264580
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... ORPHA:528
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hepatic steatosis, Hydronephrosis OMIM:615996
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Type II diabetes mellitus, Short stature, Obesity ORPHA:3191
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Short stature, Polyuria, Small for gestational age, Renal salt wasting, Increas... OMIM:241200
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Intrahepat... OMIM:227810
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal... ORPHA:440713
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Abnormal testis morphology, Short stature, Obesity ORPHA:2233
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Polyuria, Impaired glucose tolerance, Insulin resistance, Glucose into... OMIM:606721
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199
Silver-Russell Syndrome
Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,... ORPHA:813
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Obesity, Increased circulating AC... OMIM:219090
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... ORPHA:465508
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Cardiomegaly ORPHA:88643
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp... OMIM:602579
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity ORPHA:254525
Teratoma, Pineal
Polyuria OMIM:273120
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hypoglycemia, Growth delay, Hyperglycemia, Failure to thrive OMIM:615453
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ... ORPHA:769
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Jaundice, Pancreatic hyperplasia, Acute kidney i... ORPHA:99829
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Renal dysplasia, Obesity OMIM:615985
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothy... OMIM:618183
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Fasting hyperinsulinemia, Hepatic necrosis, H... ORPHA:71212
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Short stature, Type II diabetes mellitus, Renovascular hypertension ORPHA:401923
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Birth length ... OMIM:269880
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Pseudopseudohypoparathyroidism
Short stature, Pseudohypoparathyroidism, Obesity OMIM:612463
Wagr Syndrome
Displacement of the urethral meatus, Short stature, Obesity, Cryptorchidism ORPHA:893
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
Systemic Capillary Leak Syndrome
Renal insufficiency, Oliguria, Weight loss, Pancreatitis, Abnormal renal tubule morphology ORPHA:188
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin resistance, Insulin-resistant diabetes mel... ORPHA:79086
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Obesity, Nephro... ORPHA:110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney disease, Growth del... OMIM:608612
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Renal steatosis, Obesity, He... ORPHA:412
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Intr... ORPHA:556955
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Hypoglycemia, Postnatal growth retardati... OMIM:617093
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:615926
Zttk Syndrome
Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth ... OMIM:617140
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Long penis, Hyp... ORPHA:508
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Diabetes mellitus, Impaired glucose tolerance, Elevated... OMIM:617253
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... OMIM:601346
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... OMIM:151660
Pseudohypoparathyroidism, Type Ia
Short stature, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level,... OMIM:103580
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity OMIM:618822
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Ring Chromosome Y Syndrome
Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Cryptorchidism, Obesity, Per... ORPHA:261529
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephr... OMIM:267000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Cirrhosis, A... ORPHA:905
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete... OMIM:248370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Vesicour... ORPHA:261222
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Pseudopseudohypoparathyroidism
Short stature, Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hor... ORPHA:79445
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Mandibuloacral Dysplasia
Postnatal growth retardation, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsul... ORPHA:2457
Cholera
Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury ORPHA:173
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98754
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Nephrol... OMIM:269700
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Growth delay, T... OMIM:618500
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Weight loss, Hyperglycemia ORPHA:134
Smith-Magenis Syndrome
Short stature, Abnormality of the thyroid gland, Abnormal renal morphology, Increased body weight... OMIM:182290
Sotos Syndrome
Abnormality of the kidney, Neonatal hypoglycemia, Cryptorchidism, Increased body weight, Glucose ... OMIM:117550
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Short stature, Obesity, Increased serum testosterone level, Abnormality of the ovary ORPHA:247768
Monosomy 13Q34
Fetal pyelectasis, Insulin resistance, Obesity, Growth delay, Hepatic steatosis ORPHA:96168
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:98793
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Obesity, A... ORPHA:398079
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Precocious puberty, Cryptorchidism, Increased body weight, Abs... ORPHA:398069
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Cole Disease
Hyperglycemia OMIM:615522
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins... OMIM:209900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Pancreatitis ORPHA:727
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Prader-Willi Syndrome
Short stature, Decreased response to growth hormone stimulation test, Failure to thrive in infanc... OMIM:176270
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Failure to thrive, Diabetes mellitus, Biliary atresia, ... OMIM:600001
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Infection-Related Hemolytic Uremic Syndrome
Anuria, Diabetes mellitus, Pancreatitis, Oliguria, Acute kidney injury, Nephrotic range proteinur... ORPHA:544482
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Distal Deletion 12Q
Diabetes mellitus, Short stature, Unilateral cryptorchidism, Failure to thrive in infancy, Ectopi... ORPHA:96149
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Failure to thrive, Small for gestational age, Neonatal insulin-dependent di... ORPHA:2255
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus,... OMIM:619269
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Small for gestational age, Overgrowth, Large for gestational age ORPHA:254534
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Cardiomegaly, Hepatoblast... ORPHA:116
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria, Weight loss ORPHA:514
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Jaundice, Oliguria, Reversible renal failu... ORPHA:90051
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight, Horseshoe kidney OMIM:300860
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Insulin resistance, Hyperinsulinemia, Failure to thrive, Hepatic stea... OMIM:613327
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Obesity, Macroscopic hematu... ORPHA:251004
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia ORPHA:230
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity, Hypoketotic hypoglycemia ORPHA:26793
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Short stature, Chronic pancreatitis, Obesity, Pineal cyst, Chole... ORPHA:98908
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Hypergonadotr... OMIM:602782
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubuloi... OMIM:124000
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Obesity, Bilateral breast hypoplasia, Severe postnatal growth retardation, Severe ... ORPHA:319675
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hypernatriuria, Increased... ORPHA:90041
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Lacticaciduria, Growth delay, Hyperglycemia, Failure to thrive ORPHA:3008
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... ORPHA:293987
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Failure to thrive, Short stature, Diabetes mellitus, Abnor... ORPHA:79474
Lassa Fever
Jaundice, Oliguria ORPHA:99824
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... ORPHA:1435
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Dend Syndrome
Hyperglycemia ORPHA:79134
Dextrocardia
Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Abnormality of a... ORPHA:1666
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... ORPHA:31826
Shwachman-Diamond Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Short stature, Decreased response to growth h... ORPHA:811
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99413
Turner Syndrome
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:881
Mosaic Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99228
Monosomy X
Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... ORPHA:99226
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horse... ORPHA:444077
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria ORPHA:220393
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Peritonitis, Hemoglobinuria, Acute kidney injury, Pancreatitis ORPHA:90038
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism, Moderate albuminuria OMIM:614231
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Oliguria, Fulminant hepatitis ORPHA:319213
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury OMIM:235400
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Glycosuria, Hyperglycemia, Acute kidney injury ORPHA:466677
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Postnatal growth retardation, Biliary hyperplasia, Cryptorchidis... ORPHA:83617
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight ORPHA:244242
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Short stature, Renal phosphate wasting, Growth... ORPHA:289176
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis... OMIM:220111
Colchicine Poisoning
Renal insufficiency, Oliguria ORPHA:31824
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Cardiogenic Shock
Oliguria ORPHA:97292
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Pmm2-Cdg
Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, In... 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

Order Mouse and ES Cells

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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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