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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, 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
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes mellit... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ... OMIM:232700
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating... ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased activity o... OMIM:615158
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Intermittent jaundice, Porphyrinuria, Jaundice, Conjugated hyp... ORPHA:3111
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Interstitial Nephritis, Karyomegalic
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu... OMIM:614817
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin... ORPHA:26792
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Glycogen Storage Disease Ixb
Growth delay, Increased muscle glycogen content, Hypoglycemia, Splenomegaly, Hyperuricemia, Incre... OMIM:261750
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:369
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-p... OMIM:615238
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Growth delay, Decreased HDL choles... OMIM:605814
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Hypoglycemia, Hyperammonemia, Hepatomegaly ORPHA:35
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Death in infancy OMIM:129850
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Decreased activity of mitochondrial ... OMIM:251880
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis, Abnormal circulating lipid concentration OMIM:608709
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, 3-Methylglutaconic aciduria ORPHA:67046
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena... ORPHA:890
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:606785
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Methylmalonic aciduria, Hypoglycemia, Elevated circulating aspartate ami... OMIM:245400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hypoglycemia, Lower limb ... OMIM:300559
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Fanconi-Bickel Syndrome
Hypouricemia, Postnatal growth retardation, Hyperbilirubinemia, Increased serum bile acid concent... OMIM:227810
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Distal lowe... ORPHA:171706
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... ORPHA:247598
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death, Hyperprolinemia, Hyperalaninemia, Limb hypertonia OMIM:615918
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Recurrent h... OMIM:212140
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis... ORPHA:435651
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Decreased activity of mitochondr... OMIM:618120
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom... ORPHA:363400
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... OMIM:600649
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Polycystic liver disease, Increased total bilirubin OMIM:174050
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Death... ORPHA:53693
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydroc... OMIM:614662
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce... OMIM:231530
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia, Growth delay, Severe short stature OMIM:262400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adr... ORPHA:71526
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardat... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Decrease... OMIM:618839
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... OMIM:261680
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia OMIM:614741
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra... OMIM:617049
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Death in childhood, Intermittent jaundice, Cirrhosis, Sho... OMIM:601847
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... ORPHA:234
Fanconi-Bickel Syndrome
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... ORPHA:2088
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Death in childhood, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conjug... OMIM:269920
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hepatic steatosis, Cirrhosis... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia, Lower limb muscle weakness, Elevated circulating aspartate aminotransfera... OMIM:617950
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased total bilirubin, Exerci... OMIM:232800
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, D... OMIM:212138
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated c... ORPHA:1667
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:79159
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:614582
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis... OMIM:611881
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr... OMIM:266150
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 2
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati... OMIM:620300
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Hyperur... ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c... ORPHA:254864
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
2P21 Microdeletion Syndrome
Hypoglycemia, Mitochondrial respiratory chain defects, Hypocalcemia, Nephrolithiasis, Cystinuria,... ORPHA:163693
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314811
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Myoglobinuria, Cirrhosis, Hepatomegaly, Portal fibrosis, Fasting ... ORPHA:264580
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di... ORPHA:289504
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Transi... OMIM:229600
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... ORPHA:348
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism,... ORPHA:79319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Rhabdomyolysis, Hepatomegaly, Polycystic kidney dy... ORPHA:26791
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega... ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Hypoglycemia, Cardiomyopathy, Hypergl... OMIM:606054
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hyperammonem... OMIM:614702
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Myoglobinuria, Cirrhosis, H... ORPHA:79240
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Proteinuria, Increased blood urea nitrogen, Prolon... OMIM:274150
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestasis with episodic ja... OMIM:211600
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Elevated circulating aspartate aminotransferas... OMIM:610198
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo... OMIM:614887
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil... OMIM:619685
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,... OMIM:611126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal renal physiolo... ORPHA:158057
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Intrauterine growth retardation, H... OMIM:615710
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath... ORPHA:157
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:605479
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Hypoalbuminemia, Biliary cirrhosis, Hypotriglycer... ORPHA:2298
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardi... OMIM:276700
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu... OMIM:230400
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, General... ORPHA:98908
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Splenomegaly, C... OMIM:266200
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function ORPHA:67048
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,... OMIM:210200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi... OMIM:614922
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho... ORPHA:3032
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype... OMIM:151660
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Urinary bladder ... ORPHA:52430
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... OMIM:246450
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester... ORPHA:412
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly, Aminoaciduria ORPHA:417
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Microphallus, Decreased muscle mass, Delayed puberty, Prolonged neonatal jaundice, ... ORPHA:631
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex III, Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... OMIM:614921
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,... OMIM:277900
Relapsing Fever
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ... ORPHA:91547
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Micropenis, Neonatal hyperbilirubinemia, Growth delay ORPHA:3363
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I OMIM:618234
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration, Abno... OMIM:300438
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycin... OMIM:251000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Hyperbi... OMIM:614886
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Familial Chylomicronemia Syndrome
Acute pancreatitis, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip... ORPHA:444490
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Hyperprolinemia, Hyperalaninemia... OMIM:619003
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... OMIM:616483
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep... OMIM:602579
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Elevated circula... ORPHA:66634
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pro... OMIM:251110
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Partial atriove... OMIM:615996
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele... ORPHA:231111
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Hypoglycemia, Intrauterine growth retardation, Decreased activity... OMIM:619055
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... OMIM:610717
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Intrauterine growth retardation, Splenomegaly, Death in infancy, Joint contractur... OMIM:608540
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Death in infancy, Ventricular sept... OMIM:614876
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Camptodactyly of finger, Hypertrophic cardiomyopathy, Intrauterine growth retardati... ORPHA:1194
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo... OMIM:210210
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis OMIM:222730
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling, Elevated circulating aspa... OMIM:615595
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f... OMIM:615453
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:124000
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Intrauterine growth retardation, Elevated circulating hepatic transaminase concentr... OMIM:618958
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... ORPHA:230
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Intrauterine growth retardation, Abnormality of the liver ORPHA:1980
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepatic steatosis ORPHA:210548
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Rhabdomyolysis, Myopathy, Myoglobinuria ORPHA:713
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Death in infancy, Hyperprolinemia, Increased serum pyruvate, Hypera... OMIM:619046
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Endocardial Fibroelastosis
Endocardial fibroelastosis, Hypoplasia of penis, Restrictive cardiomyopathy, Hypoglycemia ORPHA:2022
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros... OMIM:619487
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Orthostatic Hypotension 1
Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Nocturia, Elevated... OMIM:223360
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta... OMIM:620609
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ... ORPHA:972
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, He... OMIM:613327
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, H... ORPHA:17
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia, Growth delay OMIM:204000
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial comp... OMIM:619064
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur... ORPHA:436271
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog... OMIM:613673
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Small placenta, Postnatal growth r... ORPHA:73272
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... OMIM:248600
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial c... OMIM:256810
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Inc... ORPHA:94086
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia OMIM:609734
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Postnatal gro... ORPHA:79333
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased activity of mitocho... OMIM:620646
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Postnatal growth retardation, Hypocalcemia, Ragged-red muscle fibers, Nephr... OMIM:606407
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Secundum atrial septal defect, Decreased liver function, Hypoglycemia, Skeletal mus... OMIM:608779
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Growth delay, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglut... ORPHA:3008
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Delayed puberty, Joi... OMIM:615704
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin... ORPHA:542323
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Diastasis recti, Short stature, Neonatal hypoglycemia ORPHA:231140
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles... OMIM:615486
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Decreased a... OMIM:613561
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... OMIM:619481
Combined Oxidative Phosphorylation Deficiency 1
Cholestasis, Decreased activity of mitochondrial ATP synthase complex, Intrauterine growth retard... OMIM:609060
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur... OMIM:220110
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232220
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... OMIM:301068
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616689
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Decreased activity of mitochondrial complex III, Postnatal growth retardation, Hypoglycemia OMIM:616111
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaund... ORPHA:822
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase... OMIM:618838
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Decreased serum lept... OMIM:608594
Leigh Syndrome
Decreased activity of mitochondrial complex IV, 3-Methylglutaconic aciduria, Ventricular septal d... ORPHA:506
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Glutaric Acidemia I
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Hypoglycemia, Hep... OMIM:231670
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating glycine concentra... ORPHA:79096
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ... ORPHA:95716
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice OMIM:185000
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Mito... OMIM:606812
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:557000
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Decreased activity of mitochondrial ATP synthase complex, Death ... OMIM:604273
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Isolated Complex I Deficiency
Proximal tubulopathy, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation,... ORPHA:2609
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased activity of mitochondrial complex IV, Hepatic steatosis, Decreased liver function ORPHA:70472
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... ORPHA:251004
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Hypergonadotrop... ORPHA:91
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Finger joint contracture, Short stature, Acute rha... ORPHA:48431
Hijazi-Reis Syndrome
Postnatal growth retardation, Hyperbilirubinemia OMIM:301094
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Rh Deficiency Syndrome
Intrauterine growth retardation, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin leve... ORPHA:71275
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Decreased HDL cholesterol concentration, Hepatic... ORPHA:280365
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hsd10 Disease, Infantile Type
Hypoglycemia, Hypertrophic cardiomyopathy, Abnormality of mitochondrial metabolism, Hyperammonemi... ORPHA:391428
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Pancreatitis, Hyper... OMIM:236200
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:2576
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Hyperalaninemia, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:614739
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Abnormality of th... ORPHA:298
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Growth delay, Ascites, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hyp... OMIM:259720
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Hepatic steatosis ORPHA:96168
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit... ORPHA:69665
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Decreased serum leptin, Hyperinsulinemia... OMIM:269700
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Death in infancy, Prote... OMIM:208500
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intrauterine growth reta... OMIM:617713
Mehmo Syndrome
Micropenis, Birth length less than 3rd percentile, Delayed puberty, Hypoglycemia OMIM:300148
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Foot joint contracture, Postnatal growth... ORPHA:90321
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... ORPHA:79322
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark... ORPHA:521219
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Dilated cardiomyopathy, Methylmalonic aciduria, Hypoglycemia, ... OMIM:248360
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Horse... OMIM:607330
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, N... ORPHA:2126
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function ORPHA:570422
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hepatosplenomeg... ORPHA:39812
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ... ORPHA:445038
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f... OMIM:603553
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jaundice,... OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hy... OMIM:619433
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Intrauterine growth retardation, Hyperammonemia, Decreased activity of mitochondria... OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Growth delay, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic car... OMIM:252010
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Death in infancy OMIM:620151
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega... OMIM:616719
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Death in infancy, Dec... OMIM:618235
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Ventricular septal defect, Elevated circulating alanine aminotra... OMIM:614866
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:614376
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Chronic p... OMIM:232240
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... OMIM:212065
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Hypoglycemia OMIM:618241
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Pituitary Hormone Deficiency, Combined, 6
Short stature, Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skelet... ORPHA:367
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Hyperbilir... OMIM:619534
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypertrophic cardio... OMIM:617303
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay ORPHA:100025
Sialidosis Type 2
Nephropathy, Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Hepatomegaly, Flex... ORPHA:87876
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Elevated circu... ORPHA:85450
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... ORPHA:79239
Immunodeficiency 10
Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Myopathy, Hepatomegaly, Nephrotic... OMIM:612783
Silver-Russell Syndrome 1
Abnormality of the ureter, Intrauterine growth retardation, Nephroblastoma, Fasting hypoglycemia,... OMIM:180860
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Renal i... OMIM:613861
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, ... ORPHA:746
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Abnormality of the lower urinary tract ORPHA:101009
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... ORPHA:456312
Combined Oxidative Phosphorylation Deficiency 27
Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular hepatic steatosis,... OMIM:616672
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Decreased activity of the p... OMIM:614299
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic... OMIM:613730
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Reactive hypoglycemia, Hyperuricemi... ORPHA:469
Hyperbiliverdinemia
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... OMIM:614156
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Postnatal growth retardatio... OMIM:207800
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly ORPHA:134
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Hypoglycemia OMIM:619075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt... ORPHA:289916