Gene Summary

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

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 circulating sodium level Gys2tm1a(KOMP)Wtsi HOM   Early adult 9.45×10-06
decreased body weight Gys2tm1a(KOMP)Wtsi HOM   Early adult 6.16×10-07
increased circulating total protein level Gys2tm1a(KOMP)Wtsi HOM Early adult 1.16×10-06
decreased circulating glucose level Gys2tm1a(KOMP)Wtsi HOM Early adult 6.46×10-14
increased circulating serum albumin level Gys2tm1a(KOMP)Wtsi HOM Early adult 3.78×10-06
increased circulating calcium level Gys2tm1a(KOMP)Wtsi HOM Early adult 1.24×10-07
increased lean body mass Gys2tm1a(KOMP)Wtsi HOM Early adult 1.27×10-05
increased total body fat amount Gys2tm1a(KOMP)Wtsi HOM Early adult 4.36×10-06
abnormal vibrissa morphology Gys2tm1a(KOMP)Wtsi HOM Early adult 4.19×10-05
increased bone mineral density Gys2tm1a(KOMP)Wtsi HOM Early adult 3.67×10-05
abnormal coat/ hair morphology Gys2tm1a(KOMP)Wtsi HOM   Early adult 8.08×10-07

Download data as:  TSV  XLS

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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 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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

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
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hype... 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
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I 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
Type II diabetes mellitus, Insulin resistance 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
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity OMIM:615961
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insip... ORPHA:181393
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, ... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:79085
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia, Hepatic failure ORPHA:79319
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
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
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Multiple Myeloma
Elevated circulating creatinine concentration, Weight loss, Hyperproteinemia, Pathologic fracture... ORPHA:29073
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitu... ORPHA:435660
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatomegaly, Hepatic failure, Hy... OMIM:617872
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Abnormal circulating... ORPHA:280356
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
X-Linked Sideroblastic Anemia
Glucose intolerance, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hypoglycemia ORPHA:35
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Diabetes mellitus, Increased bone mineral density OMIM:602475
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Hypoglycemia OMIM:614736
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure OMIM:617049
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia, Failure to thrive OMIM:304800
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis, Hypercalcemia, Infantile hypercalc... ORPHA:99879
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:607398
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Trypsinogen Deficiency
Hypoproteinemia, Failure to thrive OMIM:614044
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy... OMIM:616000
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Hypercalcemia, Failure to thrive in infancy ORPHA:436
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatom... ORPHA:528
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:246900
Acth Deficiency, Isolated
Fasting hypoglycemia, Adrenal hypoplasia, Decreased circulating cortisol level, Cholestasis, Jaun... OMIM:201400
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Alopeci... OMIM:136300
Infantile Myofibromatosis
Osteolysis, Abnormal hair morphology, Chondrocalcinosis, Bone cyst, Hypercalcemia, Limitation of ... ORPHA:2591
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Melorheostosis
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Long eyelashes, Hypoglycemia ORPHA:163693
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypo... ORPHA:398063
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:79083
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia, Obesity ORPHA:88643
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hypoglycemia,... ORPHA:369
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Failure to thrive ORPHA:172
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Pancreatitis, Splenomegaly, Type II diabetes me... ORPHA:90970
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes me... ORPHA:79086
Nephrogenic Diabetes Insipidus
Hypernatremia, Failure to thrive ORPHA:223
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia, Failure to thrive OMIM:615863
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenome... ORPHA:2348
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic... OMIM:260370
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Hypercalcemia,... OMIM:241500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Mandibuloacral Dysplasia
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... ORPHA:2457
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Sparse hair OMIM:615508
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hyperlipidemia OMIM:232400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hype... ORPHA:2089
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep... OMIM:619048
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Central diabetes insipid... ORPHA:411590
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:203400
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Panhypopituitarism, Neonatal hypoglycemia, Hypothyroidism, Adrenal insuffi... OMIM:262600
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:610600
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hypoinsulinemia, Recurrent hy... ORPHA:2126
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly, Diabetes mellitus OMIM:271500
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hemochromatosis, Type 4
Impaired glucose tolerance, Glucose intolerance OMIM:606069
Placental Insufficiency
Insulin resistance ORPHA:439167
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Failure to thrive, Weight loss OMIM:143880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Failure to thrive OMIM:618426
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased carnitine l... OMIM:212140
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Infantile Liver Failure Syndrome 2
Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia OMIM:616483
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Neonatal hypoglycemia, Adrenocorticotropin deficient a... ORPHA:199296
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, He... OMIM:261680
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypocalcemia, Hypercalcemia, Abnormality of the frontal hairline ORPHA:557003
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79230
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Low posterior hairline, Hypercalcemia, Small for gestational... OMIM:618440
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Weight loss, Failure to thrive in infancy, Hyper... ORPHA:171876
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyponatremia, Hyperuricemia, Weight loss, Hypoglycemia, Type I... ORPHA:199299
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive OMIM:177735
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomeg... OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Chylomicron Retention Disease
Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi... OMIM:246700
Primary Intestinal Lymphangiectasia
Osteoporosis, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Failure to thrive ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:615160
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyp... ORPHA:435651
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:556037
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Adr... OMIM:619386
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Long eyelashes, Decreased body weight, Umbilical hernia, Incre... OMIM:614856
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Failure to thrive, Hypomagnesemia, Diabetes mellitus OMIM:613845
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:556030
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Addison Disease
Generalized bone demineralization, Hyponatremia, Hyperuricemia, Weight loss, Hypoglycemia, Increa... ORPHA:85138
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypercalcemia, Multiple lipomas OMIM:600740
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:264350
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Hypoketotic hypoglycemia, Small for gestational age, I... ORPHA:26793
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fractur... OMIM:259700
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Weight loss, Hypoglycemia, Increased circulating renin level, Sparse... ORPHA:95409
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Hereditary Coproporphyria
Atypical scarring of skin, Hyponatremia, Extension of hair growth on temples to lateral eyebrow, ... ORPHA:79273
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance ORPHA:199276
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level OMIM:202200
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Recurrent fra... ORPHA:251004
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Weight loss ORPHA:97289
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Type II diabetes mellitus, Sple... OMIM:616860
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Pathologic fracture, Hypercalcemia, Knee flexion contracture, Hip contracture, ... OMIM:156400
Omenn Syndrome
Hypoproteinemia, Alopecia, Failure to thrive OMIM:603554
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure OMIM:602579
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h... OMIM:231530
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Elevated circulating ... ORPHA:2088
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Weight loss, Abnormal circula... ORPHA:103910
Fibrous Dysplasia Of Bone
Hypophosphatemia, Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasi... ORPHA:249
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia OMIM:618958
Hyperkalemic Periodic Paralysis
Flexion contracture, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentratio... ORPHA:682
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia OMIM:201910
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Recurrent fractures, Calcinosis, Hypercalcemia, Failure to thrive OMIM:239200
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia OMIM:201450
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Long eyelashes, Neonatal hypoglycemia, Failure to thrive OMIM:606407
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Chondrocalcinosis, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Infantil... ORPHA:405
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Acute hyperammonemia, Hypertrig... ORPHA:247585
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Chondrocalcinosis OMIM:145981
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Abnormal enzyme/coenzyme activity, Di... ORPHA:676
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance OMIM:309620
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Arthritis ORPHA:90363
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased skull os... ORPHA:93324
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Inc... OMIM:239000
Johanson-Blizzard Syndrome
Hypoproteinemia, Alopecia, Failure to thrive, Abnormal hair pattern, Diabetes mellitus ORPHA:2315
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Craniofacial osteosclerosis, Odontodysplasia, Enthesitis, Fibrous dysp... ORPHA:437
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus OMIM:233805
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Decreased body weight, Neonatal insulin-dependent diabetes mell... ORPHA:1667
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated hepatic transaminase, Hypoglycemia OMIM:618329
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity OMIM:603233
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia... ORPHA:280365
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Alpha-Heavy Chain Disease
Hypocalcemia, Alopecia ORPHA:100025
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Hypoalbuminemia, Failure to thrive OMIM:608104
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoart... ORPHA:53
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Immunodeficiency 27A
Salmonella osteomyelitis, Hypoalbuminemia, Weight loss OMIM:209950
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hepatocellular carcinoma, Hepatome... OMIM:235200
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hepatic failure ORPHA:2394
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Failure to thrive, Hypochloremia OMIM:214700
Familial Parathyroid Adenoma
Hypophosphatemia, Recurrent fractures, Generalized osteoporosis, Hypercalcemia, Osteopenia, Polya... ORPHA:99877
Short Syndrome
Diabetes mellitus, Insulin resistance ORPHA:3163
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Ankle flexion contracture, Increased ... ORPHA:100924
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
X-Linked Agammaglobulinemia
Hypocalcemia, Cellulitis, Weight loss, Failure to thrive, Alopecia, Osteomyelitis, Arthritis ORPHA:47
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Type II diabetes mellitus,... ORPHA:91
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Transie... OMIM:255120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hirsutism, Hyponatremia, Increased circulating renin level, Failure to thr... ORPHA:90791
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Weight loss, Failure to thrive, Hyperk... ORPHA:361
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Insulin-resistant diabetes mellitus OMIM:268020
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Inguinal hernia, Hypertrichosis, Hypoproteinemia OMIM:235255
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Hypoglycemia, Del... ORPHA:95619
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Hypocalcemia, Hypophosphatemia, Delayed epiphyseal ossification, Rickets, Oste... ORPHA:289157
Monosomy 13Q34
Obesity, Horizontal eyebrow, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Increased circulating renin level, Increased serum prostaglandin E2, Hypokalem... OMIM:601678
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia totalis, Alopecia, Failure to thrive, Recurrent hypoglycemia, Nail dystrophy ORPHA:293978
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Hyperlipidemia, Insulin resistance ORPHA:90154
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Glycerol Kinase Deficiency
Hypertriglyceridemia, Adrenocortical hypoplasia, Adrenal insufficiency, Hypoglycemia OMIM:307030
Hartsfield Syndrome
Hypernatremia, Craniosynostosis OMIM:615465
Mirage Syndrome
Radial club hand, Hyponatremia, Decreased body weight, Hypoglycemia, Hyperkalemia OMIM:617053
Parathyroid Carcinoma
Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Weight loss, Hypercalcemia, Infantile hypercal... ORPHA:143
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... ORPHA:71212
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level, Failure to thrive ORPHA:427
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia OMIM:600955
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Alop... ORPHA:31824
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Hepatic fibrosis... OMIM:246200
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Whipple Disease
Hepatomegaly, Hypothyroidism, Insulin resistance, Splenomegaly ORPHA:3452
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Synophrys, Hypercalcemia, Failure to thrive ORPHA:476126
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Weight loss, Hypoglycemia, Hypokalemia, Hypercalcemia, Hypoalbu... ORPHA:88673
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Silver-Russell Syndrome
Premature adrenarche, Recurrent hypoglycemia, Precocious puberty, Insulin resistance ORPHA:813
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypokalemia, Cachexia, Alopecia, Hypomagnesemia, Nail dystrophy OMIM:175500
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Osteomalacia ORPHA:89937
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia OMIM:618835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Impaired glucose tolerance, Elevated hepatic transaminase, Glucose into... OMIM:610131
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Decreased liver function, Hypoglycemia OMIM:618839
Werner Syndrome
Slender build, Osteoporosis, Premature graying of hair, Insulin resistance, Chondrocalcinosis, Ab... ORPHA:902
Mastocytosis
Osteoporosis, Recurrent fractures, Hypercalcemia ORPHA:98292
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Leptospirosis
Hyperproteinemia ORPHA:509
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Cholestatic liver disease, Hypoglycemia ORPHA:5
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Ele... OMIM:235555
Melorheostosis, Isolated