Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Gys2tm1a(KOMP)Wtsi HOM Early adult 1.48×10-05
decreased circulating glycerol level Gys2tm1a(KOMP)Wtsi HOM Early adult 3.36×10-06
abnormal coat/ hair morphology Gys2tm1a(KOMP)Wtsi HOM   Early adult 8.08×10-07
increased total body fat amount Gys2tm1a(KOMP)Wtsi HOM Early adult 9.98×10-06
abnormal vibrissa morphology Gys2tm1a(KOMP)Wtsi HOM Early adult 4.19×10-05
increased circulating sodium level Gys2tm1a(KOMP)Wtsi HOM Early adult 1.20×10-11
increased circulating chloride level Gys2tm1a(KOMP)Wtsi HOM Early adult 2.35×10-06
decreased body weight Gys2tm1a(KOMP)Wtsi HOM   Early adult 6.16×10-07
increased circulating calcium level Gys2tm1a(KOMP)Wtsi HOM Early adult 2.23×10-06
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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

14 Images

Legacy Phenotype Associated Images

View all 131 images

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
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... 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 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
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 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Hepati... OMIM:615703
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Hypogonadism, ... ORPHA:181393
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance OMIM:617885
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin ... OMIM:612526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... ORPHA:171706
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314811
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:79085
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, ... OMIM:604367
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism OMIM:144600
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Diabetes mellitus OMIM:615980
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia ORPHA:35710
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hypogonadism, Diabetes mellitu... OMIM:615381
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism, Central hypothyroidism OMIM:616113
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Neonatal Hemochromatosis
Hypoglycemia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic... OMIM:617872
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... ORPHA:435660
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia, Inc... ORPHA:94086
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hy... OMIM:306000
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... OMIM:618549
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Seckel Syndrome 10
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circula... OMIM:617253
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Propionic Acidemia
Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hepatomegaly ORPHA:35
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Hypernatremia OMIM:304800
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Increased circulating 18-hydroxycortisone level, Increased circulating renin l... OMIM:610600
Adamantinoma
Hypercalcemia ORPHA:55881
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Multiple Myeloma
Hyperproteinemia, Weight loss, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... ORPHA:3008
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, D... ORPHA:528
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis,... OMIM:231100
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Acth Deficiency, Isolated
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... OMIM:201400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia OMIM:214700
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, Ins... ORPHA:79083
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Hyperlipidemia, Splenomegaly, Cirrhosis, Insulin resista... ORPHA:90970
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypocalcemia, Long eyelashes ORPHA:163693
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556037
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Nephrogenic Diabetes Insipidus
Failure to thrive, Hypernatremia ORPHA:223
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:617950
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Placental Insufficiency
Insulin resistance ORPHA:439167
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Hypertriglyceridemia, Insulin-resi... ORPHA:79086
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Elevated serum 11-deoxycortisol, Increased circulating renin level, Hyponatrem... ORPHA:556030
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... OMIM:261680
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,... ORPHA:2457
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic fibrosis OMIM:232400
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Increased serum testosterone level, Type II diab... ORPHA:2298
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resist... ORPHA:2348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, Elevat... OMIM:619048
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Hypernatremia OMIM:615508
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperaldosteronism, Hyperkalemia OMIM:177735
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, Hypoglycemia, Recurrent hy... ORPHA:2126
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus OMIM:616033
Wolfram-Like Syndrome
Glucose intolerance, Hypothyroidism, Male hypogonadism, Primary gonadal insufficiency, Central di... ORPHA:411590
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... ORPHA:2089
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Central Diabetes Insipidus
Failure to thrive, Weight loss, Hyponatremia ORPHA:178029
Infantile Liver Failure Syndrome 2
Hypoglycemia, Elevated hepatic transaminase, Jaundice, Acute hepatic failure OMIM:616483
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Anomalous splenoportal venous system OMIM:271500
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Infantile hypercalcemia OMIM:143880
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:203400
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased carnitine level in liver, Im... OMIM:212140
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Oculocerebrodental Syndrome
Enamel hypoplasia, Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia ORPHA:557003
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Hypercalcemia ORPHA:99879
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:613090
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Prolo... ORPHA:199296
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Small for gestational age, Elbow flexion contracture, Hyperc... OMIM:618440
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Elevated circulating alkaline phos... ORPHA:263455
Acute Adrenal Insufficiency
Failure to thrive, Sparse axillary hair, Decreased circulating cortisol level, Increased circulat... ORPHA:95409
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Endocardial Fibroelastosis
Hypoglycemia, Anterior hypopituitarism ORPHA:2022
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:364
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Small for gestational age, Hyperammonemia, Hypoketotic hypoglycemi... ORPHA:26793
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Infantile Myofibromatosis
Chondrocalcinosis, Abnormal hair morphology, Hypercalcemia ORPHA:2591
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergonadotropic hypogonadism... ORPHA:79237
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... ORPHA:79230
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... OMIM:619386
Late-Onset Isolated Acth Deficiency
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Type I diabetes mellitus, ... ORPHA:199299
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Hypertriglyceridemia, Insulin... ORPHA:435651
Mpi-Cdg
Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal enzyme/coenzyme a... ORPHA:79319
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Hyponatremia, Hyperuricemia, Diabetes mellitus OMIM:613845
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... OMIM:600649
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Hypogonadism, Insulin resistance ORPHA:73272
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Hypophosphatasia, Infantile
Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hereditary Coproporphyria
Extension of hair growth on temples to lateral eyebrow, Facial hirsutism, Abnormal circulating po... ORPHA:79273
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Increased circulating ACTH level, Abnormal response to ACTH... OMIM:202200
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly OMIM:266150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldosteronism, Hypochloremia, Hyperchloriduria OMIM:602522
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoketotic hypoglyce... OMIM:231530
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia... OMIM:613327
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Alopecia OMIM:603554
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration... ORPHA:2088
Addison Disease
Failure to thrive, Sparse axillary hair, Decreased circulating cortisol level, Increased circulat... ORPHA:85138
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated he... OMIM:616860
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Cirrhosis, Macrovesicular ... OMIM:256810
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Hypogl... OMIM:617049
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ... ORPHA:785
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly OMIM:618958
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Hypocalciuric Hypercalcemia, Familial, Type Ii
Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:145981
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:601678
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Hereditary Chronic Pancreatitis
Abnormal enzyme/coenzyme activity, Recurrent pancreatitis, Diabetes mellitus, Pancreatic calcific... ORPHA:676
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Elevated hepatic transaminase ORPHA:289504
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency OMIM:210740
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Familial Glucocorticoid Deficiency
Failure to thrive, Decreased circulating cortisol level, Ketotic hypoglycemia, Hypoglycemic seizu... ORPHA:361
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia, Alopecia, Abnormal hair pattern, Diabetes mellitus ORPHA:2315
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Alg8-Cdg
Failure to thrive, Small for gestational age, Camptodactyly, Abnormality of subcutaneous fat tiss... ORPHA:79325
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Pseudohypoparathyroidism, Type Ib
Obesity, Hypocalcemia, Hyperphosphatemia OMIM:603233
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Splenomegaly,... OMIM:613812
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hirsutism, Decreased circulating cortisol level, Increased circulating renin l... ORPHA:90791
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Alopecia, Decreased circulating cortisol level, Alopecia totalis, Hyponatremia... ORPHA:293978
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Ménétrier Disease
Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Failure to thrive, Hypocalcemia, Long eyelashes OMIM:606407
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus OMIM:233805
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Elevated circulating creatine kinase concentration, Hyponatremi... ORPHA:682
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Monosomy 13Q34
Insulin resistance, Obesity, Horizontal eyebrow, Infantile hypercalcemia ORPHA:96168
Hyperparathyroidism, Neonatal Severe
Calcinosis, Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:239200
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased serum leptin, Hypertriglyceridemia, Diabetes ... ORPHA:280365
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Chondrocalcinosis, Multiple lipomas, Hypercalcemia, Hypermagnesemia OMIM:600740
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... OMIM:251880
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Small for gestational age ORPHA:391673
Hemochromatosis, Type 1
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic ... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure ORPHA:2394
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia, ... OMIM:255120
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
Wolcott-Rallison Syndrome
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Neonatal insulin-dependent diabetes me... ORPHA:1667
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Failure to thrive, Hyponatremia OMIM:300200
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Aromatase Deficiency
Hyperlipidemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Insulin resistance, He... ORPHA:91
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Hyperkalemia ORPHA:90790
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Insulin-resistant diabetes mellitus OMIM:268020
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Knee flexion contracture, Hypophosphatemia, Hypercalcemia OMIM:156400
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Hypercalcemia, Increased circulating cortisol level OMIM:131100
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly ORPHA:2849
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Synophrys, Hypercalcemia ORPHA:476126
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... ORPHA:100924
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Alopecia, Abnormal blood ion concent... ORPHA:31824
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... ORPHA:95619
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Inguinal hernia OMIM:235255
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic fai... ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Delayed puberty ORPHA:90154
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... ORPHA:88673
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Diabetes mellitus, Subcutaneous... ORPHA:97282
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Familial Hypocalciuric Hypercalcemia
Lipoma, Renal hypophosphatemia, Chondrocalcinosis, Hypercalcemia, Hypermagnesemia, Infantile hype... ORPHA:405
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Nail dystrophy OMIM:175500
Cholera
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia ORPHA:173
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Adrenocortical hypoplasia, Adrenal insufficiency OMIM:307030
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Hepatic fibrosis, ... OMIM:246200
Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:427
Whipple Disease
Insulin resistance, Hepatomegaly, Hypothyroidism, Splenomegaly ORPHA:3452
Zollinger-Ellison Syndrome
Lipoma, Increased circulating cortisol level, Multiple lipomas, Hypercalcemia, Increased glucagon... ORPHA:913
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Precocious puberty, Premature adrenarche ORPHA:813
Somatostatinoma
Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Diabetes mellitus, Subcutaneous... ORPHA:97283
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Hepatic fib... OMIM:602579
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:241200
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Elevated hepatic transaminase, Abnormality of the liver, Impaired glucose to... OMIM:610131
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Cellulitis, Alopecia, Weight loss ORPHA:47
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Decreased circulating cortisol level OMIM:618839
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease, Hepatomegaly ORPHA:5
Classic Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Abnormal erythrocyte enzyme lev... ORPHA:79239
Mirage Syndrome
Hypoglycemia, Decreased body weight, Hyperkalemia, Hyponatremia OMIM:617053
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Timothy Syndrome
Hypoglycemia, Hypocalcemia OMIM:601005
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Splenomegaly,... OMIM:235555
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Nail dystrophy, Elevated circulating creatine kinase concentration, Hypoprotei... OMIM:615895
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Diabetes mellitus, Subcutaneous... ORPHA:97280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hirsutism, Decreased circulating cortisol level, Frontal balding, Hyperkalemia... ORPHA:90794
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia ORPHA:633
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pituitary Stalk Interruption Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic stea... ORPHA:42
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Microvesicular hepatic steatosis, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Cog8-Cdg
Hypoglycemia, Elevated hepatic transaminase ORPHA:95428
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Inguinal hernia ORPHA:1655
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, ... ORPHA:411634
Parathyroid Carcinoma
Hypophosphatemia, Lipoma, Chondrocalcinosis, Hypercalcemia, Infantile hypercalcemia, Weight loss ORPHA:143
Sheehan Syndrome
Sparse axillary hair, Decreased circulating cortisol level, Sparse pubic hair, Hypoglycemia, Brea... ORPHA:91355
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Hartsfield Syndrome
Hypernatremia OMIM:615465
Ppoma
Subcutaneous lipoma, Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Snakebite Envenomation
Hyponatremia ORPHA:449285
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridem... OMIM:151660
Leptospirosis
Hyperproteinemia ORPHA:509
Porphyria Variegata
Abnormal circulating porphyrin concentration, Scarring, Hypertrichosis, Hyponatremia ORPHA:79473
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... OMIM:203800
Werner Syndrome
Insulin resistance, Type II diabetes mellitus, Thyroid carcinoma, Hypogonadism ORPHA:902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Abnormal erythrocyte en... ORPHA:264580
Dengue Fever
Hypoproteinemia ORPHA:99828
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis OMIM:212138
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Diabetes mellitus OMIM:616541
Fibrous Dysplasia Of Bone
Hypophosphatemia, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia ORPHA:29072
Leprechaunism
Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Increased circula... ORPHA:508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Insuli... OMIM:209900
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyperinsulinemia, Hy... ORPHA:276152
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia ORPHA:93160
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Grfoma
Subcutaneous lipoma, Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Neonatal hypoglycemia, Hypoglycemia, Elevated he... ORPHA:348
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyper... OMIM:608612
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Decreased circulating cortisol level, Increased circulating renin level, Abnor...