Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Hadha MGI:2135593

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Synonyms:

Mtpa

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 Hadha 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.

Human diseases associated with Hadha (4 diseases)
Human diseases predicted to be associated with Hadha (945 diseases)

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

Disease	Matching phenotypes	Source
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Cholestasis, Cardiomyopathy, Skeletal myopathy, Hypocalcemia, Left ventricular hy...	ORPHA:746

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

Disease	Matching phenotypes	Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ...	OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s...	OMIM:620010
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Rotor Syndrome	Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Porphyrinuria, Intermittent jaundice, Hyp...	ORPHA:3111
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ...	ORPHA:79085
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy...	OMIM:606762
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:619386
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci...	OMIM:619048
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia	ORPHA:329249
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Growt...	OMIM:261750
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Cardiomyopathy,...	ORPHA:26792
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Mildly elevated creatine kin...	OMIM:618400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Short statur...	ORPHA:369
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Elevated cir...	OMIM:232400
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria	ORPHA:35
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog...	OMIM:300559
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Diabetes mellitus, Hepatic steatosis	OMIM:608709
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal...	ORPHA:446
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,...	OMIM:613404
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Death in infancy, Hypoglycemia, 4-hydroxyphenyla...	OMIM:617156
Edinburgh Malformation Syndrome	Death in infancy, Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	ORPHA:228305
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated...	ORPHA:435660
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to...	ORPHA:890
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Short stature, Hypoglycemia	ORPHA:366
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Fatty replacement of skeletal muscle, Growth delay, Proximal muscle weakness in lo...	ORPHA:171706
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate amino...	OMIM:227810
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinem...	OMIM:616299
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, De...	OMIM:201475
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c...	OMIM:615160
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepatic steatosis, Limb hypertonia	OMIM:615918
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept...	OMIM:614300
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio...	OMIM:618892
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Gracile Syndrome	Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Renal Fancon...	ORPHA:53693
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas...	OMIM:261680
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy...	ORPHA:35878
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin res...	OMIM:615381
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E...	ORPHA:2394
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin	OMIM:174050
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr...	OMIM:306000
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi...	ORPHA:79303
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotran...	OMIM:245400
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Isolated Growth Hormone Deficiency, Type Ia	Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth...	OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:617049
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H...	OMIM:616026
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Atrial septal defect, Vent...	OMIM:208085
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper...	ORPHA:263455
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp...	OMIM:618120
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res...	ORPHA:528
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Inc...	OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal...	OMIM:601847
Fanconi-Bickel Syndrome	Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate...	ORPHA:2088
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo...	OMIM:212138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c...	OMIM:617950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate...	OMIM:617253
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Glycogen Storage Disease Xii	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja...	OMIM:611881
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Short Stature Due To Partial Ghr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314802
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, Deat...	OMIM:269920
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam...	OMIM:246450
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hypog...	OMIM:231530
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobi...	OMIM:620300
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di...	ORPHA:79159
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Renal tubular...	ORPHA:156
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Short Stature Due To Ghsr Deficiency	Growth delay, Short stature, Hypoglycemia, Delayed puberty	ORPHA:314811
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron...	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H...	ORPHA:79319
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc...	OMIM:229600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Pituitary Hormone Deficiency, Combined, 4	Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia	OMIM:262700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Hyperurice...	ORPHA:348
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopath...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liv...	OMIM:618835
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3...	ORPHA:26791
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatic ...	ORPHA:2348
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Peroxisomal Acyl-Coa Oxidase Deficiency	Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati...	OMIM:264470
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Hyperglycin...	OMIM:606054
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, H...	OMIM:232200
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia...	ORPHA:79240
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia	ORPHA:163693
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen...	OMIM:610198
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Abnormal cir...	ORPHA:369840
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil...	OMIM:211600
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating leptin concentration, Abnormal cir...	ORPHA:2298
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp...	OMIM:615710
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function	ORPHA:67048
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal ...	ORPHA:52430
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp...	ORPHA:412
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia...	OMIM:266200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Growth delay, Micropenis, Neonatal hyperbilirubinemia	ORPHA:3363
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c...	OMIM:614702
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl...	ORPHA:2089
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:614921
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Aminoaciduria	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Steatorrhea, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyperinsulinemic hypogly...	OMIM:602579
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature	ORPHA:417
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia...	ORPHA:101330
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Microvesicu...	OMIM:611126
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Neonatal de...	OMIM:620265
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car...	OMIM:616483
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty	OMIM:616033
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellit...	ORPHA:98908
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Diaphragmatic eventration, Microvesicular hep...	ORPHA:66634
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Renal tubular dysfunction, Growth delay, Hyperbilir...	OMIM:614886
Hereditary Continuous Muscle Fiber Activity	Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl...	ORPHA:972
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Rhabdomyolysis, Myopathy, Hyperbilirubinemia, Myoglobinuria	ORPHA:713
Idiopathic Congenital Hypothyroidism	Macroglossia, Umbilical hernia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ...	ORPHA:71
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Hypoplasia of penis, Hypoglycemia, Endocardial fibroelastosis	ORPHA:2022
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple...	ORPHA:444490
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, ...	ORPHA:1194
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma	ORPHA:210548
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertensi...	OMIM:619487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Death in infancy, Splenomegaly, Flexion contracture, Cardiomyopathy, Intrauterine g...	OMIM:608540
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th...	ORPHA:480520
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr...	OMIM:614876
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Intrauterine growth retardation	OMIM:618958
Orthostatic Hypotension 1	Nocturia, Increased blood urea nitrogen, Hypomagnesemia, Weakness of facial musculature, Neonatal...	OMIM:223360
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia, Hypoglycemia	ORPHA:364
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Death in infancy, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hypera...	OMIM:619046
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Hypoglycemia, Elevated circulating creatine kinase concentration, Death in adol...	OMIM:619055
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr...	OMIM:619484
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Hypotonia-Cystinuria Syndrome	Facial palsy, Postnatal growth retardation, Ragged-red muscle fibers, Nephrolithiasis, Cystinuria...	OMIM:606407
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g...	ORPHA:73272
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperamm...	OMIM:210210
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp...	OMIM:246200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Intrauterine growth retardation	ORPHA:1980
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Primary hypothyroidism	ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:618838
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi...	ORPHA:94086
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio...	ORPHA:436271
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Short stature, Splenomegaly, Hepatosplenomegaly, Hypertrophic cardiomy...	OMIM:613673
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Pheochromocytoma, Elevated cir...	ORPHA:1332
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Diastasis recti, Hypoglycemia, Postnatal growth retardation, Neonatal hypoglycemia	ORPHA:231140
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiomyopathy, Neonatal...	OMIM:619003
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hypoglycemia, Abnormal heart morphology	ORPHA:231147
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Short stature, Elevated circulating as...	OMIM:608779
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Adrenomyodystrophy	Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:614727
Leber Congenital Amaurosis 1	Growth delay, Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly	OMIM:204000
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hyp...	OMIM:232220
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Gr...	OMIM:615453
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati...	OMIM:619991
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin...	OMIM:220110
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc...	ORPHA:90301
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Growth...	OMIM:615704
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Death in infancy, Facial palsy, Elevated circulating creatine kinase concentration,...	OMIM:619424
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level, Prolon...	ORPHA:95715
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Short stature, Acute rhabdomyolysis, Intrauterine growth r...	ORPHA:48431
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Increased bl...	ORPHA:251004
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrov...	OMIM:618329
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Familial Thyroid Dyshormonogenesis	Macroglossia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulating thyroglobulin l...	ORPHA:95716
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Hypoketotic hypoglycemia	OMIM:610768
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, D...	ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Elevated circulating creatinine concentration, Cholestasis, Perim...	OMIM:608104
Aromatase Deficiency	Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He...	ORPHA:91
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemi...	ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoglycemia, Hyperammonemia	OMIM:614739
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci...	OMIM:557000
Malonyl-Coa Decarboxylase Deficiency	Short stature, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopath...	OMIM:248360
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, Generalized amyotrophy, 2-ethylhydracylic aciduria	OMIM:610006
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc...	OMIM:231670
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia	ORPHA:96168
Mehmo Syndrome	Birth length less than 3rd percentile, Micropenis, Hypoglycemia, Delayed puberty	OMIM:300148
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Hyperprolinemia, Dea...	OMIM:619064
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Rh Deficiency Syndrome	Miscarriage, Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Intrauterine growth retardation, R...	ORPHA:71275
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t...	ORPHA:2126
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Homocystinuria, Methioninuria, Hyperhomocystinemia, Mitral valve prolapse, Hypermethioninemia, He...	OMIM:236200
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Short stature, Facial palsy, Splenomegaly, Hepatosplenomegaly, Growth delay, Stillb...	OMIM:259720
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis...	OMIM:208500
Mulibrey Nanism	Hepatomegaly, Short stature, Intrauterine growth retardation	ORPHA:2576
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hyp...	ORPHA:17
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contrac...	ORPHA:90321
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Jaundice...	ORPHA:39812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Ventricular septal defect, Mi...	OMIM:619418
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Short stature, Hyperbilirubinemia, Hypoglycemia	OMIM:613986
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, C...	ORPHA:445038
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Death in childhood, Aminoaci...	OMIM:604273
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
Fumarase Deficiency	Increased urine succinate level, Bilateral fetal pyelectasis, Intrahepatic cholestasis, Elevated ...	OMIM:606812
Hereditary Elliptocytosis	Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun...	ORPHA:288
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis, Increased se...	ORPHA:69665
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Hyperbilirubinemia, Prolonged neon...	OMIM:224120
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration o...	ORPHA:391428
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ...	ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen...	OMIM:607616
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, In...	ORPHA:2609
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Ragged-red muscle fibers, Abnormality of th...	ORPHA:298
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis,...	OMIM:614866
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi...	OMIM:232240
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Pericarditis, Proteinuria, Pericar...	OMIM:212065
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Flexio...	ORPHA:367
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulati...	OMIM:235200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr...	OMIM:614376
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ...	OMIM:612158
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic b...	OMIM:616719
Autosomal Dominant Spastic Paraplegia Type 29	Abnormality of the lower urinary tract, Hyperbilirubinemia	ORPHA:101009
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Death in childhood, Nephrotic syndr...	OMIM:617303
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Ventricular septal defect, La...	ORPHA:506
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney...	ORPHA:447
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Cholestasis, Cardiomyopathy, Skeletal myopathy, Hypocalcemia, Left ventricular hy...	ORPHA:746
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Fast...	OMIM:180860
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Ascites, Delayed puberty, He...	ORPHA:79239
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl...	OMIM:248370
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia	OMIM:609727
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Umbilica...	ORPHA:87876
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Death in infancy, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal ve...	OMIM:619433
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper...	ORPHA:469
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Laron Syndrome	Hypoplasia of penis, Severe short stature, Hypoglycemia, Delayed puberty, Hypercholesterolemia	ORPHA:633
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemia, Ascites	ORPHA:100025
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
Mitochondrial Complex I Deficiency, Nuclear Type 33	Intrauterine growth retardation, Hypospadias, Hyperammonemia, Hypoglycemia	OMIM:618253
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Intrauterine growth retardation...	OMIM:613861
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Mild postnatal growth reta...	ORPHA:456312
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic...	OMIM:613730
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate...	OMIM:614034
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragm...	ORPHA:2260
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Death in infancy, Hypospad...	OMIM:252010
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem...	ORPHA:20
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr...	ORPHA:289916
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia	ORPHA:134
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome...	ORPHA:79259
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc...	OMIM:238970
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,...	OMIM:608885
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy	OMIM:607685
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Intrauterine growt...	OMIM:617710
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Insulin-...	ORPHA:2959
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Hypoglycemia	OMIM:229700
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Muscle hemorrhage, ...	ORPHA:464321
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Short stature, Hypoglycemia, P...	OMIM:613658
19P13.12 Microdeletion Syndrome	Hypospadias, Ventricular septal defect, Hyperlipidemia, Atrial septal defect, Arthrogryposis mult...	ORPHA:254346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros...	OMIM:616263
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia, Growth delay, Aminoaciduria, Micropenis	OMIM:220120
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies, Intrauterin...	OMIM:620275
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Cardiomyopathy, Pancreatitis	ORPHA:79312
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly,...	OMIM:615630
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance	OMIM:214150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hypogl...	ORPHA:79282
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Cardiomyopat...	ORPHA:699
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Flexion contracture, Growth delay, 3-Methylglutaconic aciduria, Intrauterine growth r...	OMIM:616271
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Death in infancy, Hyperammonemia, Intrauterine growth retardation	OMIM:610678
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Death in infancy, Short stature, Elevated circulating C-reactive protein concentrat...	OMIM:619423
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Placental Insufficiency	Insulin resistance	ORPHA:439167
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Hypoglycemia, Elevated urinary 5-amino-4-imidazoleca...	OMIM:608688
Whipple Disease	Hyponatremia, Hepatomegaly, Splenomegaly, Insulin resistance, Hypothyroidism	ORPHA:3452
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Ventricular septal defect, Elevate...	OMIM:614576
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle w...	OMIM:251900
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Atrial septal defect, Short sta...	OMIM:613610
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Death in infancy, Elevated circulating hexacosanoic acid concentration, Jaundice, E...	OMIM:614872
Timothy Syndrome	Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ...	OMIM:601005
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi...	OMIM:208540
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylgl...	ORPHA:254913
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Intrauterine growth retardation	OMIM:616355
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosin...	OMIM:613630
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Ascites	ORPHA:2123
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia, Renal salt wasting	OMIM:614736
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplas...	ORPHA:1166
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Leprechaunism	Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Postnatal growth retardation, Insulin re...	ORPHA:508
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Copper accumulation in liver, Growth delay, Death in childhood, Aminoaciduria, ...	OMIM:614946
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Macroglossia, Prolonged neonatal jaundice, Umbilical h...	ORPHA:90673
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Abnormal heart morphology, Death in chil...	OMIM:214110
Mu-Heavy Chain Disease	Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly	ORPHA:100024
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocell...	OMIM:618278
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:615356
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Chronic pancr...	OMIM:307030
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Short stature, Hypoglycemia	ORPHA:231137
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Diabetes mellitus, Portal hypertension, ...	ORPHA:465508
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Hypoglycemia, Renal salt wasting	OMIM:201910
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Neonatal hypoglycemia	OMIM:618905
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Atrial septal defect, Ventricular septal defect...	ORPHA:488618
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Cardiomyopathy, Pancreatitis	ORPHA:27
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Infantile Refsum Disease	Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Facial palsy, Elevated circ...	ORPHA:772
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia	ORPHA:95428
Shigellosis	Hyponatremia, Hypoglycemia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Rhab...	ORPHA:810
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Myelomeningocele, ...	OMIM:607330
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Neonatal hypoglycemia, Leiom...	ORPHA:116
Fetal Gaucher Disease	Hepatomegaly, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion contracture, Sti...	ORPHA:85212
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Pancreatic And Cerebellar Agenesis	Death in infancy, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defect, Flexion contrac...	OMIM:609069
Arima Syndrome	Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hemat...	OMIM:243910
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Short stature, Neonatal hyperbilirubinemia	ORPHA:293939
Cimdag Syndrome	Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac...	OMIM:261515
Isolated Thyroid-Stimulating Hormone Deficiency	Growth delay, Macroglossia, Umbilical hernia, Prolonged neonatal jaundice, Hypercholesterolemia, ...	ORPHA:90674
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Short stature, Dextrocardia, Cystathioninuria, Methylmaloni...	OMIM:277380
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation...	ORPHA:391408
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Hypoglycemia, Hyper...	OMIM:617053
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff...	OMIM:260370
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Rhabdomyolysis, Decreased liver function	OMIM:602199
Cholera	Hyponatremia, Abnormality of renal excretion, Miscarriage, Hypoglycemia, Abnormal blood ion conce...	ORPHA:173
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Ventricular septal defect, Hypocalcemia, Hyperbil...	ORPHA:163979
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia	ORPHA:438134
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Renal hypoplasia, Growth delay, Recurrent hypoglycemia, Delayed puberty, Intrauter...	OMIM:616817
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Conjugated hyperbilirubinemia...	OMIM:620305
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Hypoglycemia, Postnatal growth retardation, Type I diabet...	OMIM:616113
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Short stature, Increased circulating ferrit...	OMIM:222700
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Perlman Syndrome	Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Hypoplasia of t...	OMIM:267000
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Microphthalmia, Syndromic 9	Renal malrotation, Atrial septal defect, Severe short stature, Short stature, Truncus arteriosus,...	OMIM:601186
Temple Syndrome	Postnatal growth retardation, Recurrent hypoglycemia, Short stature, Type II diabetes mellitus	ORPHA:254516
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr...	OMIM:619127
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Splenomegaly, Elbow flexion contractu...	OMIM:618440
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyp...	OMIM:600001
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Shashi-Pena Syndrome	Hypoglycemia, Unilateral renal agenesis, Atrial septal defect, Intrauterine growth retardation, L...	OMIM:617190
Orthostatic Hypotension 2	Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Delayed puberty	ORPHA:90154
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Renal cyst, Knee flexion contracture, Death in childhood, Atrial septal defe...	OMIM:210710
Silver-Russell Syndrome Due To A Point Mutation	Hypospadias, Hypoglycemia, Postnatal growth retardation, Microphallus, Small placenta, Intrauteri...	ORPHA:397590
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypertrop...	ORPHA:848
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intrauterine growth retardation	OMIM:614602
Smith-Kingsmore Syndrome	Umbilical hernia, Rhizomelia, Diastasis recti, Hypoglycemia	OMIM:616638
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, Hepatosplen...	ORPHA:168577
Degcags Syndrome	Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale...	OMIM:619488
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morpho...	ORPHA:1759
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Te...	OMIM:300887
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Beta-Thalassemia Intermedia	Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenome...	ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He...	OMIM:194380
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Encephalocele, Unilateral r...	OMIM:216360
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypoglycemia, Hypercalcemia, Renal salt wasting, Decreased uri...	ORPHA:95409
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal mesentery mo...	ORPHA:2075
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu...	OMIM:232300
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Atrial septal defect,...	ORPHA:373
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus, Hypothyroidism, Abnormal circulating lipid concentration	OMIM:616541
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Death in childhood, Atrial septal ...	OMIM:243800
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia, Neonatal death, Micropenis	OMIM:618810
Silver-Russell Syndrome	Precocious puberty, Premature adrenarche, Recurrent hypoglycemia, Insulin resistance	ORPHA:813
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Death in adolescence, Proximal tubulopathy, Death in childhood, Type I di...	OMIM:560000
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excr...	OMIM:607015
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart morphology, Periportal fibro...	OMIM:263210
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Hypospadias, Hypoglycemia, Hypocalcemia, Micropenis, Patent foramen ovale	OMIM:607143
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Hypergly...	OMIM:251110
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hyper...	ORPHA:361
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy...	OMIM:251100
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Pericardial effusion, Increased circulating ferritin concentration, Splenomegaly, H...	OMIM:615846
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Type I diabete...	ORPHA:199299
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Death i...	OMIM:614862
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,...	ORPHA:358
Werner Syndrome	Hypogonadism, Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus	ORPHA:902
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Hypoglycemia, Nephrocalcinosis, Atrial septal defect, Intrauterine growth retardat...	OMIM:618005
Axial Mesodermal Dysplasia Spectrum	Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the sple...	ORPHA:1834
Atypical Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentration, Insulin-resis...	ORPHA:79474
Pituitary Stalk Interruption Syndrome	Death in infancy, Hypoplasia of penis, Short stature, Hypoglycemia, Delayed puberty	ORPHA:95496
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle f...	ORPHA:732
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia...	ORPHA:139466
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe ...	ORPHA:2470
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag...	ORPHA:887
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase concentration,...	OMIM:610505
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Abnormality of the p...	OMIM:222470
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia, Maternal diabetes	ORPHA:563609
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration	ORPHA:85414
Tonne-Kalscheuer Syndrome	Short stature, Hypospadias, Congenital diaphragmatic hernia, Abnormal heart morphology, Growth de...	OMIM:300978
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Spina b...	ORPHA:99776
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Torticollis, Hypospadias, Bicuspid aortic valve, Ventricular septa...	OMIM:619475
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Flexion contracture, Renal hypoplasia, Azotemia, Intrauterine growth retardation, ...	OMIM:619321
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protei...	ORPHA:829
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis, Type II diabetes mellitus	OMIM:210900
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Diastasis recti, Cardiomegaly, Neonatal hypoglycemia, Pancreatic hy...	OMIM:130650
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Short stature, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Mednik Syndrome	Death in infancy, Cholestasis, Growth delay, Death in childhood, Hepatic fibrosis, Cirrhosis, Inc...	OMIM:609313
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Ketonuria, Hypospadias, Hypoglycemia, Bicuspid aortic valve, Mitral atresia, Mi...	OMIM:220111
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Hypoglycemia, Ventricular septal defect, ...	ORPHA:457279
Post-Traumatic Pituitary Deficiency	Growth delay, Hypoglycemia, Delayed puberty	ORPHA:95619
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn...	OMIM:608022
Holoprosencephaly	Hyponatremia, Encephalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, C...	ORPHA:2162
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Hematuria, Growth d...	ORPHA:77259
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat...	OMIM:270400
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Fasting hypoglycemia	ORPHA:436174
Tenorio Syndrome	Macroglossia, Enuresis, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Growth delay, Macroglossia, Hyperbilirubinemia, Umbili...	OMIM:218700
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death...	OMIM:608978
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Increased c...	OMIM:601494
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Muscular ventricular septal defect, Biv...	ORPHA:79324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Nodular re...	ORPHA:404454
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the...	ORPHA:171
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:1335
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Congenital Erythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Red-brown urine, Porphyrinuria, Incre...	ORPHA:79277
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Death i...	OMIM:300868
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Hyper...	ORPHA:85138
Neuronal Intestinal Pseudoobstruction	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Emanuel Syndrome	Recurrent urinary tract infections, Torticollis, Truncus arteriosus, Ventricular septal defect, C...	OMIM:609029
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Pericarditis, Hypoglycemia, Elevated circulat...	ORPHA:99826
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Anomalous...	ORPHA:1120
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Mitral stenosis, Ventricular septal defect, Double outlet right ventricle, Vesicoure...	ORPHA:163956
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia	ORPHA:2141
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersp...	ORPHA:231214
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Pancreatic l...	ORPHA:1655
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Congenital diaphragmatic hernia, Anencephaly	ORPHA:63862
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Glucose...	OMIM:117550
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Increased cir...	ORPHA:90791
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous pulmonary v...	ORPHA:555874
Acrocallosal Syndrome	Hypospadias, Congenital diaphragmatic hernia	ORPHA:36
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
15Q24 Microdeletion Syndrome	Short stature, Hypospadias, Congenital diaphragmatic hernia, Postnatal growth retardation, Myelom...	ORPHA:94065
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Hypospadias, Postnatal growth retardation, Insulin resistance, Horseshoe k...	ORPHA:96182
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Short stature, Facial palsy, Unconjugated hyperbilirubinemia, Prolonged neonatal ...	OMIM:620186
Combined Oxidative Phosphorylation Defect Type 39	Intrauterine growth retardation, Neonatal hypoglycemia, Congenital foot contractures, Limb hypert...	ORPHA:565624
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Short stature, Meningocele...	ORPHA:2311
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Kabuki Syndrome 2	Short stature, Postnatal growth retardation, Horseshoe kidney, Pulmonic stenosis, Atrial septal d...	OMIM:300867
8P23.1 Microdeletion Syndrome	Short stature, Hypospadias, Congenital diaphragmatic hernia, Growth delay, Hypertrophic cardiomyo...	ORPHA:251071
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99226
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:881
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia	ORPHA:90790
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria,...	OMIM:617248
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Diastasis recti, Neonatal hypoglycemia	ORPHA:457485
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Neonatal insulin...	ORPHA:2255
Lowry-Maclean Syndrome	Hypospadias, Congenital diaphragmatic hernia, Abnormality of the abdominal organs, Growth delay, ...	ORPHA:2409
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Craniofrontonasal Dysplasia	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr...	OMIM:606721
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Intellectual Disability-Strabismus Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Achilles tendon contracture, Congeni...	ORPHA:363528
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c...	ORPHA:168558
Chromosome 15Q25 Deletion Syndrome	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Dextrocardia, Growth d...	OMIM:614294
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Flexion contracture, Severe postnatal growth retardation, Hydronephrosis, Neonatal...	ORPHA:35173
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholelithiasis	OMIM:301066
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma...	ORPHA:96170
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Generalized amyotrophy, Intrauterine growth retardation, Neonatal hypoglycemia, L...	ORPHA:572798
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, Joint contracture of the 5th finger, Hepatic steatosis, Urinary ...	OMIM:619934
Deeah Syndrome	Hepatomegaly, Death in infancy, Short stature, Death in adolescence, Death in childhood, Intraute...	OMIM:619004
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Proximal 16P11.2 Microduplication Syndrome	Micropenis, Short stature, Congenital diaphragmatic hernia	ORPHA:370079
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Hypoglycemia, Growth delay, Macroglossia, Prolonged neonatal jaundice, Umbili...	ORPHA:226307
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Short stature, Hypoglycemic seizures	OMIM:262600
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Short stature, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:84064
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
13Q12.3 Microdeletion Syndrome	Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content,...	OMIM:261740
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemi...	ORPHA:90062
Cooper-Jabs Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Congenital diaphragmatic herni...	ORPHA:1488
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the...	ORPHA:2847
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture	OMIM:619183
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, Short stature, Congenital diaphragmatic hernia	ORPHA:284180
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Flexion contracture, Short stature, Hypoglycemia	OMIM:616007
Menkes Disease	Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculature, Bladder diverticulum, Umbilic...	ORPHA:565
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Neonatal hypoglycemia	OMIM:617600
Porphyria, Congenital Erythropoietic	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphyrin...	OMIM:263700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Micropenis, Hypoglycemia, Torticollis	OMIM:620224
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoglycemia, Bicuspid aortic valve, Macroglossia, Umbilical hernia, Aortic valve stenosis	OMIM:614501
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Seckel Syndrome 9	Recurrent urinary tract infections, Short stature, Ventricular septal defect, Congenital diaphrag...	OMIM:616777
Meacham Syndrome	Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t...	ORPHA:3097
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst	ORPHA:137675
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex...	OMIM:618280
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Oculodentodigital Dysplasia	Neurogenic bladder, Hypoglycemia, Camptodactyly of finger, Ventricular septal defect, Umbilical h...	ORPHA:2710
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Short stature, Myopathy, Hypoglycemia	ORPHA:109
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Donnai-Barrow Syndrome	Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Non-acidotic proximal tu...	OMIM:222448
Zaki Syndrome	Short stature, Renal agenesis, Congenital diaphragmatic hernia, Patent foramen ovale, Hydronephrosis	OMIM:619648
White-Sutton Syndrome	Duplicated collecting system, Short stature, Facial hypotonia, Congenital diaphragmatic hernia, H...	OMIM:616364
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Ventral shortening of foreskin, Urethral diverticulum, Displacem...	ORPHA:95706
Fetal Alcohol Syndrome	Atrial septal defect, Intrauterine growth retardation, Short stature, Congenital diaphragmatic he...	ORPHA:1915
Sheehan Syndrome	Hyponatremia, Hyposthenuria, Hypoglycemia	ORPHA:91355
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Bloom Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:125
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Hypoglycemia	OMIM:131100
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1692
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Short statu...	ORPHA:1606
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Atrial septal defect, Intrauterine growth retardation, Ureteropelvic junct...	OMIM:300896
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Proteinuria, Abnormal heart valve morphology, Pericardi...	ORPHA:77261
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Congenital Heart Defects And Skeletal Malformations Syndrome	Short stature, Hypospadias, Congenital diaphragmatic hernia, Ventricular septal defect, Camptodac...	OMIM:617602
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Diamond-Blackfan Anemia 10	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic...	OMIM:613309
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:261344
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, D...	OMIM:618651
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventra...	OMIM:619503
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, A...	ORPHA:391665
1Q41Q42 Microdeletion Syndrome	Growth delay, Short stature, Congenital diaphragmatic hernia	ORPHA:250999
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Short stature, Congenital diaphrag...	ORPHA:991
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:261197
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Ventricu...	OMIM:611812
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Death in infancy, Morgagni diaphragmatic h...	OMIM:613177
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypertriglyceridemia, Hypospadias, Camptodactyly of finger, S...	ORPHA:3455
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Abnor...	ORPHA:77293
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia, Hypoglycemia	ORPHA:786
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Diastasis recti, ...	ORPHA:2092
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia	ORPHA:25
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Congenital diaphragmatic hernia, Umbilical hernia, N...	ORPHA:1001
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Short stature, Ventric...	OMIM:122470
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Costello Syndrome	Renal insufficiency, Short stature, Hypoglycemia, Rhabdomyosarcoma, Ventricular septal defect, Ac...	OMIM:218040
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Short stature, Ventricular septal defect, Unilateral renal ...	OMIM:188400
Sarcoidosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Facial palsy, Nephrolithia...	ORPHA:797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Miscarriage, Neonatal hypoglycemia, Renal salt wasting, Long penis, ...	ORPHA:90794
Poland Syndrome	Duplicated collecting system, Encephalocele, Atrial septal defect, Diabetes mellitus, Hypospadias...	ORPHA:2911
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Short stature, Congenital diaphragmatic hernia	OMIM:606164
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Short stature, Rhizomelia, Congenital diaphragmatic hernia, Cardiomegaly, B...	OMIM:245600
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Congenital diaphra...	ORPHA:818
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia	OMIM:619699
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Abnormality of the kidney, Congenital ...	ORPHA:2369
Trisomy 18	Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the upper...	ORPHA:3380
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia	OMIM:612530
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Short stature, Congenital diaphragmatic hernia, Bicusp...	ORPHA:1596
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia	ORPHA:958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diaphragmatic hernia,...	OMIM:614080
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia, Rena...	OMIM:618454
Pmm2-Cdg	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone...	ORPHA:79318
Opitz Gbbb Syndrome	Atrial septal defect, Enlarged ovaries, Hypospadias, Short stature, Congenital diaphragmatic hern...	ORPHA:2745
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal cardiac sept...	ORPHA:2059
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63260
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Hypospadias, Short stature, Congenital diaphragmatic hernia, Weaknes...	OMIM:265000
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia	OMIM:615919
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,...	OMIM:236680
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Renal agenesis, Sirenomelia	ORPHA:1848
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Rhabdomyolysis, Hepatitis, Hyperpro...	ORPHA:509
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Congenital diaphragmatic hernia, Abnormal heart valve mor...	ORPHA:280
White-Sutton Syndrome	Duplicated collecting system, Short stature, Facial hypotonia, Congenital diaphragmatic hernia, A...	ORPHA:468678
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia	ORPHA:2063
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Anencephaly, Transposition of the g...	OMIM:313850
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Delayed menarche, Pubertal devel...	ORPHA:740
7Q11.23 Microduplication Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Unilateral renal agenesis, Ventricul...	ORPHA:96121
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Short stature, Hypospadias, Congenital diaphragmatic hernia, Ventricular septal...	OMIM:309801
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Umbilical hernia, Congenital diaphragmatic hernia	OMIM:219100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Sotos Syndrome	Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Hypospadi...	ORPHA:821
Aymé-Gripp Syndrome	Pericarditis, Short stature, Proteinuria, Congenital diaphragmatic hernia, Postnatal growth retar...	ORPHA:1272
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Congenital diaphragmatic hernia, Flexion contracture, Umbilical hernia, ...	OMIM:208050
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor...	ORPHA:2322
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, C...	OMIM:201750
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Acrorenal-Mandibular Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac...	OMIM:200980
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Anencephaly, Polycystic kidney dysplasia, Atrial septal defect, ...	OMIM:616546
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, ...	OMIM:312870
Craniofrontonasal Syndrome	Umbilical hernia, Short stature, Hypospadias, Congenital diaphragmatic hernia	OMIM:304110
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Micropenis, Facial hypotonia, Neonatal hypoglycemia	ORPHA:457359
Iniencephaly	Encephalocele, Rhizomelia, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Myelome...	ORPHA:63259
Holoprosencephaly 1	Micropenis, Single ventricle, Short stature, Hypoglycemia	OMIM:236100
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Severe short stature, Hypospadias, Congenital diaphragmatic hernia, Ep...	ORPHA:2556
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney	ORPHA:268249
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Delayed puberty	ORPHA:90695
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Hypospadias, Congenital diaphragmatic hernia, Umbilical...	OMIM:618846
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Unilateral renal agene...	OMIM:154400
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, ...	OMIM:157800
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Congenital diaphragmatic hernia, R...	ORPHA:1308
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ectopic kidney, Postnat...	OMIM:135900
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Congenital diaphragmatic hernia, Hypoplastic left heart, Apical musc...	OMIM:301022
Tetraamelia Syndrome 1	Asplenia, Urethral atresia, Renal agenesis, Congenital diaphragmatic hernia	OMIM:273395
Cornelia De Lange Syndrome	Atrial septal defect, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hyp...	ORPHA:199
Monosomy 9P	Ureteropelvic junction obstruction, Hypospadias, Congenital diaphragmatic hernia	ORPHA:261112
Combined Pituitary Hormone Deficiencies, Genetic Forms	Growth delay, Pituitary dwarfism, Hypoglycemia, Delayed puberty	ORPHA:95494
Witteveen-Kolk Syndrome	Branchial fistula, Hypospadias, Short stature, Congenital diaphragmatic hernia, Phimosis, Contrac...	OMIM:613406
Focal Dermal Hypoplasia	Ureteral duplication, Short stature, Diastasis recti, Congenital diaphragmatic hernia, Myelomenin...	OMIM:305600
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia	OMIM:614437
Pallister-Killian Syndrome	Hypospadias, Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening, V...	OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hadha

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hadha.

No publications found that use IMPC mice or data for Hadha.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Hadha^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Hadha^{tm43048(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hadha^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us