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Gene: Gys2 MGI:2385254

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Gene Summary

Name:
glycogen synthase 2
Synonyms:
glycogen synthase, liver,  LGS

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
increased circulating chloride level Gys2tm1a(KOMP)Wtsi HOM Early adult 2.35×10-06
increased circulating sodium level Gys2tm1a(KOMP)Wtsi HOM Early adult 1.20×10-11
decreased body weight Gys2tm1a(KOMP)Wtsi HOM   Early adult 6.16×10-07
decreased circulating glucose level Gys2tm1a(KOMP)Wtsi HOM Early adult 2.55×10-26
increased circulating total protein level Gys2tm1a(KOMP)Wtsi HOM Early adult 2.72×10-06
increased lean body mass Gys2tm1a(KOMP)Wtsi HOM Early adult 1.48×10-05
abnormal coat/ hair morphology Gys2tm1a(KOMP)Wtsi HOM   Early adult 8.08×10-07
decreased circulating glycerol level Gys2tm1a(KOMP)Wtsi HOM Early adult 3.36×10-06
increased circulating calcium level Gys2tm1a(KOMP)Wtsi HOM Early adult 1.07×10-06
abnormal vibrissa morphology Gys2tm1a(KOMP)Wtsi HOM Early adult 4.19×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 5)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 5)
Bone N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 5)
Cartilage tissue N/A heterozygote 0.0% (0 of 5)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 5)
Gall bladder N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 5)
Large intestine N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower urinary tract N/A heterozygote 0.0% (0 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Lymph node N/A heterozygote 0.0% (0 of 5)
Mammary gland N/A heterozygote 0.0% (0 of 5)
Esophagus N/A heterozygote 0.0% (0 of 5)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 5)
Oviduct N/A heterozygote 0.0% (0 of 5)
Pancreas N/A heterozygote 20% (1 of 5)
Parathyroid gland N/A heterozygote 0.0% (0 of 5)
Peripheral nervous system N/A heterozygote 0.0% (0 of 5)
Peyer's patch N/A heterozygote 0.0% (0 of 5)
Pituitary gland N/A heterozygote 0.0% (0 of 5)
Prostate gland N/A heterozygote 0.0% (0 of 5)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Small intestine N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 5)
Spleen N/A heterozygote 0.0% (0 of 5)
Stomach N/A heterozygote 0.0% (0 of 5)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 40% (2 of 5)
Thymus N/A heterozygote 0.0% (0 of 5)
Thyroid gland N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 0.0% (0 of 5)
Uterus N/A heterozygote 20% (1 of 5)
White adipose tissue N/A heterozygote 0.0% (0 of 5)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

28 Images

View images
Legacy Phenotype Associated Images
Gys2tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
head, HOM, Female, WTSI

View all 131 images

Gys2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Gys2tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Gys2 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.

The table below shows human diseases associated to Gys2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089

The table below shows human diseases predicted to be associated to Gys2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydroc... OMIM:614662
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance, Hyperchol... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly OMIM:609016
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Insulin resistance OMIM:617885
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hepatosplenomegaly, Splenomegaly, Insul... OMIM:612526
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin ... ORPHA:79085
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diab... OMIM:604367
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia OMIM:620357
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Diabetes mellitus, Hepatic steatosis OMIM:615980
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Hypercalcemia, Recurrent hypoglycemia,... ORPHA:94086
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibro... ORPHA:280356
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin ... ORPHA:435660
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Seckel Syndrome 10
Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevat... OMIM:617253
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic stea... ORPHA:363400
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Glucose intolerance, Hypothyroidi... ORPHA:411590
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency ORPHA:35
Adamantinoma
Hypercalcemia ORPHA:55881
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Failure to thrive OMIM:304800
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo... OMIM:610600
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Diabetes mellitu... ORPHA:90041
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Failure to thrive, Hypoalbuminemia, Sparse hair OMIM:615508
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Weight loss, Hyperproteinemia ORPHA:29073
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276575
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia, Reduced hepatic pho... OMIM:261750
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia OMIM:614736
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia, Long eyelashes ORPHA:163693
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, H... OMIM:214700
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, H... OMIM:231100
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Elevated alkaline pho... OMIM:615363
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Placental Insufficiency
Insulin resistance ORPHA:439167
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Splenomegaly, Ins... ORPHA:79083
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin... ORPHA:369
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive ORPHA:223
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resi... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:617950
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss ORPHA:178029
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:177735
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Diabetes mell... ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619048
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem... ORPHA:276556
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:246900
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:264350
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Diabetes mellitus OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level OMIM:203400
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:616483
Webb-Dattani Syndrome
Hypernatremia, Obesity OMIM:615926
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Neoplasm o... ORPHA:2126
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:613090
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia OMIM:620423
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoalbuminemia ORPHA:398063
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Failure to thrive, ... ORPHA:95409
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Abnormality of the frontal hairline ORPHA:557003
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hypoglycemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol leve... ORPHA:199299
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:364
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or activity, Hypergonad... ORPHA:79237
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Oculoskeletodental Syndrome
Hypocalcemia, Low posterior hairline, Low anterior hairline, Hypercalcemia, Small for gestational... OMIM:618440
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Hypoglycemia, Elevated circulating hepatic transaminase concentration OMIM:615160
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration,... ORPHA:263455
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Mpi-Cdg
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po... ORPHA:79319
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619386
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Decreased adiponectin l... ORPHA:435651
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97289
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypophosphatasia, Infantile
Failure to thrive, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thrive, Hypomagnesemia, Di... OMIM:613845
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Glucocorticoid Deficiency 1
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... OMIM:202200
Infantile Myofibromatosis
Hypercalcemia, Abnormal hair morphology ORPHA:2591
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism ORPHA:73272
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Failure to thrive... OMIM:603553
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Monosomy 13Q34
Horizontal eyebrow, Insulin resistance, Obesity, Hypercalcemia ORPHA:96168
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Hypoketotic hypoglycemia,... OMIM:231530
Addison Disease
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Failu... ORPHA:85138
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea... ORPHA:247585
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Elevated circul... OMIM:617049
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-chai... OMIM:201450
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Weight loss, Hypoalbuminemia ORPHA:90362
Intellectual Developmental Disorder, Autosomal Dominant 70
Highly arched eyebrow, Hyponatremia, Failure to thrive OMIM:620157
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive, Abnormal hair pattern, Diabetes mellitus, Alopecia ORPHA:2315
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Elevated tissue non-specific alkaline phosphatase, Hype... ORPHA:785
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Familial Glucocorticoid Deficiency
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Failure to thrive, Decre... ORPHA:361
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Bartter Syndrome Type 4
Severe failure to thrive, Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatr... ORPHA:89938
Hereditary Chronic Pancreatitis
Jaundice, Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurr... ORPHA:676
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Elevated circulating hepatic transaminase concentration ORPHA:289504
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive, Neonatal hypoglycemia, Long eyelashes OMIM:606407
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hirsutism, Increased circulating renin level, Hyponatremia, ... ORPHA:90791
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:618958
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Weight loss ORPHA:2494
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Hereditary Coproporphyria
Extension of hair growth on temples to lateral eyebrow, Hyponatremia, Abnormal circulating porphy... ORPHA:79273
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Biliary cirrh... OMIM:620454
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic failure ORPHA:2394
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Hypercalcemia ORPHA:251004
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Glycogen Storage Disease Ixd
Hypoglycemia, Reduced muscle phosphorylase kinase activity OMIM:300559
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Splenomegaly, Decreased... ORPHA:280365
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:602522
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Decreased circulating cortisol level OMIM:300200
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa... ORPHA:247353
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... OMIM:235200
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated circulating hepatic transaminase concentration, Insulin-... OMIM:268020
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Decreased body weight, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonata... ORPHA:1667
Aromatase Deficiency
Hyperlipidemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Insulin resistance, He... ORPHA:91
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia ORPHA:682
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Synophrys ORPHA:476126
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemic seizures, Neonatal hypoglycemia, El... ORPHA:71212
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia ORPHA:90790
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dystrophy, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia, Alopecia OMIM:175500
Alg8-Cdg
Hyponatremia, Failure to thrive, Small for gestational age ORPHA:79325
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Failure to thrive, Glycosuria, Small for gestational age ORPHA:97362
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Recurrent ... ORPHA:293978
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level OMIM:618835
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Decreased circulating cortisol level OMIM:618839
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Alopecia OMIM:603554
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Premature adrenarche, Recurrent hypoglycemia ORPHA:813
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatic fa... OMIM:602579
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Hyperlipidemia ORPHA:90154
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Whipple Disease
Hypothyroidism, Insulin resistance, Hepatomegaly, Splenomegaly ORPHA:3452
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Failure to thrive, Increased circulating renin level ORPHA:427
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Hepatic f... OMIM:246200
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hypertrichosis OMIM:235255
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Weight loss, Elevated circulating C-reactive protein concentration OMIM:619381
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hepatomegaly, Hypoketotic hypoglycemia ORPHA:5
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased body weight OMIM:617053
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Red... OMIM:212138
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Nail dystrophy, Hypoproteinemia, Elevated circulating creatine kinase concentr... OMIM:615895
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Rabin-Pappas Syndrome
Highly arched eyebrow, Hyponatremia, Obesity, Failure to thrive in infancy OMIM:620155
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Frontal balding, Hirsutism, Hypochloremia, Hyponatremia, Fai... ORPHA:90794
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:615453
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Fructose-1,6-Bisphosphatase Deficiency
Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia, Hepatomegaly OMIM:229700
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Vipoma
Hypokalemia, Hypercalcemia, Weight loss, Diabetes mellitus, Increased circulating cortisol level ORPHA:97282
X-Linked Agammaglobulinemia
Hypocalcemia, Failure to thrive, Weight loss, Alopecia ORPHA:47
Cog8-Cdg
Hypoglycemia, Elevated circulating hepatic transaminase concentration ORPHA:95428
Snakebite Envenomation
Hyponatremia ORPHA:449285
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Failure to thrive, Glycosuria, Hypophospha... ORPHA:411634
Fibrous Dysplasia Of Bone
Diabetes mellitus, Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level ORPHA:249
Sheehan Syndrome
Breast hypoplasia, Hyponatremia, Obesity, Decreased circulating cortisol level, Sparse pubic hair... ORPHA:91355
Somatostatinoma
Steatorrhea, Hypercalcemia, Weight loss, Diabetes mellitus, Increased circulating cortisol level ORPHA:97283
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, H... OMIM:151660
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Werner Syndrome
Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus, Hypogonadism ORPHA:902
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Dengue Fever
Hypoproteinemia ORPHA:99828
Leptospirosis
Hyperproteinemia ORPHA:509
Pancreatic Agenesis 2
Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet... OMIM:615935
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Glucose intolerance, Elevated circulating hepatic transaminase concentr... OMIM:610131
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cult... OMIM:248600
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Diabetes mellitus OMIM:616541
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Hypogonadism, Insulin resistance, Hepa... OMIM:209900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, Acute hepatic steatosi... OMIM:210200
Alg12-Cdg
Low posterior hairline, Hyponatremia, Failure to thrive, Recurrent hypoglycemia, Hypoalbuminemia,... ORPHA:79324
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Obesity, Hypocalcemic tetany OMIM:612462
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Hartsfield Syndrome
Hypernatremia OMIM:615465
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... ORPHA:508
Glucagonoma
Steatorrhea, Hypercalcemia, Weight loss, Diabetes mellitus, Increased circulating cortisol level ORPHA:97280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Failure to thrive, Hypophosphatemia OMIM:600081
Zollinger-Ellison Syndrome
Increased glucagon level, Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:913
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Hypertrichosis ORPHA:79473
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Timothy Syndrome
Hypocalcemia, Hypoglycemia OMIM:601005
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia, Failure to thrive, Weight loss, Type I diabetes mellitus, Alopecia OMIM:212750
Ppoma
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97278
Shigellosis
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia, Failure to thrive in infancy ORPHA:810
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:620300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ... OMIM:608612
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:168558
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypopigmentation of hair, Hypoproteinemia, Large clumps of pigment irregula... ORPHA:167
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:289548
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Cachexia, Hyponatremia, Failure to ... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Failure to thrive, Hypoglycemia, Small for gestational age OMIM:607143
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Failure to thrive, Small for gestational age OMIM:618252
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Increased circulating cortisol level ORPHA:95613
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232200
Pheochromocytoma
Hypercalcemia OMIM:171300
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Grfoma
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Hypocalcemia, Cachexia, Decreased circulating prealbumin concentration, Failure t... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia, Weight loss ORPHA:143
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Generalized hirsutism ORPHA:1563
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Infant Botulism
Hyponatremia ORPHA:178478
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Legionnaires Disease
Hyponatremia ORPHA:549
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimoto thyroidit... ORPHA:358
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:269700
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Alopecia ORPHA:93160
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95512
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive OMIM:602361
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level ORPHA:95513
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia OMIM:617913
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232220
Holoprosencephaly
Highly arched eyebrow, Synophrys, Hyponatremia, Thick eyebrow, Failure to thrive in infancy, Hypo... ORPHA:2162
Liver Disease, Severe Congenital
Nail dystrophy, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia,... OMIM:619991
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Recurrent pancreatitis, Insulin resistance, Typ... OMIM:606721
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Failure to thrive OMIM:259700
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El... OMIM:203800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglycemia, Hyperc... OMIM:248370
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Failure to thrive, Hypokalemia OMIM:618426
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration OMIM:610505
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Weight loss, Increased circulating cortisol level ORPHA:652
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age OMIM:127000
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Sparse scalp hair, Hyponatremia, Failure to thrive, Hypophosphatemia, Hyperaldostero... ORPHA:534
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Pa... OMIM:137920
Bardet-Biedl Syndrome
Hypertriglyceridemia, Impaired fasting glucose, Elevated circulating hepatic transaminase concent... ORPHA:110
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Familial Dysautonomia
Hyponatremia ORPHA:1764
Japanese Encephalitis
Hyponatremia ORPHA:79139
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus ORPHA:544482
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Long eyelashes OMIM:618476
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia, Alopecia ORPHA:428
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Obesity, Hyperlipidemia, Hyperglycemia ORPHA:293987
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Williams Syndrome
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Obe... ORPHA:904
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Obesity, Hypocalcemic tetany OMIM:103580
Williams-Beuren Syndrome
Premature graying of hair, Medial flaring of the eyebrow, Glucose intolerance, Obesity, Hypercalc... OMIM:194050
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Failure to thrive, Slender build, Hypoalbuminemia,... OMIM:613658
Pearson Syndrome
Steatorrhea, Hypokalemia, Hypocalcemia, Hyperalaninemia, Glycosuria, Hypomagnesemia, Hypophosphat... ORPHA:699
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Sarcoidosis
Hypercalcemia, Weight loss, Alopecia ORPHA:797
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:276700
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Reduc... OMIM:229600
Cartilage-Hair Hypoplasia
Hypocalcemia, Failure to thrive, Sparse eyebrow, Sparse hair ORPHA:175
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hyperaldosteronism, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Obesity, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyper... OMIM:232240
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D... OMIM:201750
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Pierson Syndrome
Hypoproteinemia OMIM:609049
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Diabetes mellitus, Hypocalcemic seizures ORPHA:2237
Sotos Syndrome
Neonatal hypoglycemia, Sparse anterior scalp hair, Hypercalcemia ORPHA:821
Hutchinson-Gilford Progeria Syndrome
Pubertal developmental failure in females, Decreased serum leptin, Delayed menarche, Female hypog... ORPHA:740
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cranioectodermal Dysplasia 1
Hypocalcemia, Slow-growing hair, Short nail, Sparse hair, Fine hair OMIM:218330
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Glycosuri... ORPHA:79474
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Failure to thrive, Elevated circulating creatine kinase concentration ORPHA:2785
Hennekam Syndrome
Hypocalcemia, Sparse axillary hair ORPHA:2136
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Abnormality of hair texture, Hypophosphatemia ORPHA:667
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High anterior hairline, Medial flaring of the eyebrow, Hypocalcemia, Thoracic hypertrichosis, Hir... OMIM:619503
22Q11.2 Deletion Syndrome
Hypocalcemia, Failure to thrive, Obesity ORPHA:567
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Hypocalcemia, Hypoplastic nipples, Sparse scalp hair, Increased VLDL cholesterol concentration, F... OMIM:243800
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Digeorge Syndrome
Hypocalcemia, Obesity OMIM:188400
Charge Syndrome
Hypocalcemia OMIM:214800

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.

Phenotype Allele Zygosity Sex Life Stage
Liver - iron deposition Gys2tm1a(KOMP)Wtsi HOM Early adult
Spleen - MPATH diagnostic term extramedullary hemopoiesis Gys2tm1a(KOMP)Wtsi HOM Early adult
Spleen - hyperplasia Gys2tm1a(KOMP)Wtsi HOM Early adult
Liver - lipid deposition Gys2tm1a(KOMP)Wtsi HOM Early adult
Liver - process of degenerative change Gys2tm1a(KOMP)Wtsi HOM Early adult

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 Gys2.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gys2tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Gys2tm1a(KOMP)Wtsi PMC6459510
Glucose-6-phosphate-mediated activation of liver glycogen synthase plays a key role in hepatic glycogen synthesis. Diabetes (August 2013) Gys2tm1a(KOMP)Wtsi PMC3837029

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gys2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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