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Gene: Fgf21 MGI:1861377

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
fibroblast growth factor 21
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fgf21 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fgf21 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ... ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... OMIM:615703
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... ORPHA:363400
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Lipase Deficiency, Combined
Type II diabetes mellitus, Lipodystrophy, Pancreatitis, Hypertriglyceridemia OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... ORPHA:79084
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Decreased HDL choleste... OMIM:151660
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:95717
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Abnorma... ORPHA:79237
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Adren... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Fever, Elevated circulating thyroid-stimulating... OMIM:617872
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Gait disturbance, Hepatomegaly, Abnormal adipose tissue mor... ORPHA:2398
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Overgrowth, Polyphagia OMIM:620195
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c... ORPHA:95716
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Splenomeg... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Splenomegaly, Hepatic steatosis, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:245400
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:608594
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... ORPHA:247585
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... ORPHA:79086
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... ORPHA:2088
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Gait di... OMIM:618400
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia, Hypoglycemia OMIM:615026
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased acid sphin... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Elevated... OMIM:269700
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Lethargy,... ORPHA:26792
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyce... OMIM:603552
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... ORPHA:226313
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Temperature instability, Small pituitary gland, Cen... ORPHA:398069
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Recurrent fever, Increased circulating ferritin concentration, Fever, Splenomegaly, Hy... OMIM:300635
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Reduced hepatic N-acetylglutamate synthase activity, Hyperammonemia, Hypotherm... OMIM:237310
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Fever, Recurrent hypoglycemia, Anorexia,... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... OMIM:212140
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Umbi... ORPHA:90673
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Fever, Hypertriglyceridemia OMIM:608898
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat... ORPHA:79319
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Hypothermia, ... ORPHA:293987
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Sple... OMIM:617591
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Aplasia/Hypoplasia of metatarsal bones, Long f... ORPHA:2502
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL cholesterol concentr... ORPHA:412
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Low p... OMIM:261680
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia OMIM:610006
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low... ORPHA:93356
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypert... ORPHA:98855
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glucocorticoid Deficiency 3
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:609197
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Abnorma... ORPHA:17
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Failure to t... ORPHA:2089
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body... OMIM:182290
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Recurrent fever, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenom... OMIM:613101
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypert... ORPHA:98863
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypert... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypert... ORPHA:98853
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... OMIM:610717
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Bulging epiphyse... OMIM:600785
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... OMIM:618620
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... ORPHA:890
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Failure to thrive OMIM:610768
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles... OMIM:245900
Propionic Acidemia
Hypoglycemia ORPHA:35
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... ORPHA:369840
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:603553
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Immunodeficiency 114, Folate-Responsive
Recurrent fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia... OMIM:620603
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia... OMIM:614654
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Decre... OMIM:606721
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Inability to walk, Abnormal circulating enzyme conce... ORPHA:70472
Timothy Syndrome
Hypoglycemia, Hypothermia, Hypocalcemia, Cardiomegaly, Hypothyroidism OMIM:601005
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis,... OMIM:618805
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Hepatic steatosis, Attention deficit hyperactivity disorder, Multiple lipomas,... ORPHA:210548
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Broad-based gait, Recurrent hypoglycemia, Cholestasis, ... OMIM:256810
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Reduced C-peptide level, Hyperglycemia OMIM:618856
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Meningococcal Meningitis
Fever, Hypothermia, Lethargy, Increased circulating procalcitonin concentration, Anorexia, Elevat... ORPHA:33475
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Sepsis In Premature Infants
Temperature instability, Fever, Decreased liver function, Splenomegaly, Hypothermia, Decreased bo... ORPHA:90051
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Broad-based gait, Elevated circulating hepatic transaminase concentrat... ORPHA:2959
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat... OMIM:614842
Hypobetalipoproteinemia, Familial, 1
Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Hyper... OMIM:615558
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Pannicul... OMIM:618398
H Syndrome
Recurrent fever, Hypogonadism, Hepatosplenomegaly, Hernia, Lipodystrophy, Delayed puberty, Hypert... ORPHA:168569
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Temperature instability, Class III obesity, Failure ... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... OMIM:614582
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia OMIM:202150
Hypoadrenocorticism, Familial
Cyanosis, Hypoglycemia OMIM:240200
X-Linked Acrogigantism
Ataxia, Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemi... ORPHA:300373
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia OMIM:201400
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Malignant hyperthermia, Elevated circulating hepatic transaminase conce... OMIM:614921
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Hypoglycemia OMIM:201910
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased proinsulin:... ORPHA:94086
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyr... ORPHA:254346
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Difficulty walking, Inability to walk, Obesity, Decreased respon... OMIM:300148
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:277700
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... OMIM:619418
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Cirr... ORPHA:470
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Failure to thrive in infancy, Obesity, Attention def... ORPHA:819
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Abnormality of alkaline phosphatase level, Overfriendliness, Hypertriglyceri... OMIM:618010
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... OMIM:609734
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Fever, Cholestasis, Hyperammonemia, H... ORPHA:292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkal... ORPHA:275761
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Failure to thrive, Fever, Gait ataxia, Hypothermia, Abnormality of Krebs cycle m... ORPHA:255210
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Elevated circulating dih... OMIM:223360
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Camp... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Lethargy,... ORPHA:156
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnor... OMIM:618493
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hyper... OMIM:617575
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Absence of secondary sex characteristics, Tall... ORPHA:785
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Inguinal hernia, Joint contracture OMIM:614498
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet... OMIM:616263
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... ORPHA:465508
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... ORPHA:98907
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Abnormal circulating enzyme ... ORPHA:79259
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Reduced 3-methylcrotonyl CoA carboxylas... OMIM:210200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia, Hyperam... ORPHA:79282
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu... OMIM:261750
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Reactive hypoglycemia, Hypoinsulinemia OMIM:600955
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Metaphyseal cupping, Rhizomeli... OMIM:250220
Alobar Holoprosencephaly
Temperature instability, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Temperature instability, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased ... ORPHA:93926
Lobar Holoprosencephaly
Temperature instability, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased ... ORPHA:93924
Semilobar Holoprosencephaly
Temperature instability, Central hypothyroidism, Failure to thrive, Inability to walk, Decreased ... ORPHA:220386
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Decreased circulating cortisol level, Neonatal hypoglycemia ORPHA:199296
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Tall stature, Inguinal hernia, Hepatic steatosis, Reduced ... OMIM:236200
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Fanconi-Bickel Syndrome
Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Elevated gamma-glutamyltransf... OMIM:227810
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Addictive alcohol use, Hypercholest... ORPHA:90065
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Eunuchoid habitus, Hepatic steatosis, ... ORPHA:91
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:274300
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Alexander Disease
Self-injurious behavior, Precocious puberty, Failure to thrive, Hypothermia, Gait disturbance, Hy... ORPHA:58
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Abnorma... OMIM:614963
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia OMIM:615962
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C... OMIM:615486
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly, Hypotri... ORPHA:14
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Fever, Increased circ... ORPHA:94093
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Leri-Weill Dyschondrosteosis
Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal meta... OMIM:127300
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased ci... OMIM:614897
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Fever, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolem... ORPHA:567548
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... OMIM:615947
Glycerol Kinase Deficiency
Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Lethargy, H... OMIM:307030
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphal... OMIM:614450
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:616267
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Primary Erythromelalgia
Hypothermia ORPHA:90026
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase conc... OMIM:618775
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Beta-Ketothiolase Deficiency
Fever, Hypoglycemia, Anorexia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion, Weigh... ORPHA:134
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... OMIM:218700
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Fever, Increased circulating ferritin ... OMIM:619802
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Decreas... OMIM:231530
Pearson Syndrome
Hepatic steatosis, Hypophosphatemia, Ataxia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Hypopla... ORPHA:699
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, ... ORPHA:746
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Recurrent hypoglycemia OMIM:202200
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:610198
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu... OMIM:277460
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia ORPHA:631
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, Hy... ORPHA:565
Foxp1 Syndrome
Decreased circulating iron concentration, Failure to thrive, Attention deficit hyperactivity diso... ORPHA:391372
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia ORPHA:2377
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia OMIM:614736
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fever, Hypoglycemia, El... ORPHA:99826
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Elevated circulating hepatic transaminase concentration, Fever, Increased circulating fer... ORPHA:158048
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Recurrent fever, Cholestasis, Ascites,... OMIM:619573
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... ORPHA:1667
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Fever, Increased circulating ferritin concentration, Hypoplasia of the thymus, Hypertriglyceridem... OMIM:619313
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... OMIM:615595
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use ORPHA:31825
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Rett Syndrome
Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Increased serum leptin, Cholec... ORPHA:778
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary... ORPHA:363618
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Broad phalanx, Short metacarpal, Calcification of cartilage, Abnormal calcifica... OMIM:271665
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Ataxia, Hepatomegaly OMIM:619273
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Anorexia, Ataxia, Hepatomegaly, Tip-toe gait, Elevate... ORPHA:3008
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... OMIM:231680
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Elevated circulating luteinizing hormone level, Decreased circulating follicle stim... OMIM:229070
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Leydig cel... OMIM:308750
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Glycosu... OMIM:229600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Ataxia, Spastic g... ORPHA:99027
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated circulating alkal... ORPHA:52430
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Inability to walk, Decreased response to growth hormone... ORPHA:488632
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Griscelli Syndrome Type 2
Fever, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79477
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl... ORPHA:93317
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir... ORPHA:30391
Overlap Myositis
Elevated circulating hepatic transaminase concentration, Abnormal circulating lipid concentration... ORPHA:206572
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... OMIM:619471
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:614837
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypothyroidism, Neona... ORPHA:445038
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Glycosuria, Gait disturbance, Ataxia, Hepatomegaly, ... ORPHA:436271
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... OMIM:613658
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase con... OMIM:614924
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Liver Disease, Severe Congenital
Portal inflammation, Recurrent fever, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic ech... OMIM:619991
Necrotizing Enterocolitis