Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphoenolpyruvate carboxykinase 1, cytosolic
Synonyms:
Pck-1,  PEPCK

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 Pck1 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 Pck1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680

The table below shows human diseases predicted to be associated to Pck1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Postnatal growth retardation, ... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Diabetes mellitus, Insulin resistance OMIM:615980
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resis... ORPHA:79085
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90159
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipodystrophy, Increased adi... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyc... ORPHA:435651
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketoti... ORPHA:276608
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Analbuminemia
Hypercholesterolemia, Lipodystrophy OMIM:616000
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, ... OMIM:271500
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hypoglycemia, Leucine-Induced
Coma, Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia, Drowsiness OMIM:240800
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinism Due To Insr Deficiency
Coma, Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fa... ORPHA:263458
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Elevate... OMIM:255120
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hepatomegaly, Hype... ORPHA:2348
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Pallor ORPHA:79283
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Hepatic steatosis, Imp... OMIM:212140
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90158
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Splenomegaly, Type ... ORPHA:90970
3-Methylglutaconic Aciduria Type 1
Coma, Dystonia, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia ORPHA:67046
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperinsulinism Due To Glucokinase Deficiency
Coma, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II di... ORPHA:79299
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Degenerative liver disease, Pallor OMIM:268040
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy ORPHA:141184
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Hepato... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase OMIM:614582
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Ataxia, Hypoglycemia, Hepatomegaly, Decreased ... OMIM:246900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Umbilical hernia, Hypoinsulinemia, Diabe... ORPHA:99886
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase ORPHA:300536
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy OMIM:212112
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinemia, Hyperlysinuria OMIM:238750
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Flexion contracture, Lipoatrophy, Type I diabetes mellitus, Reduced subcutaneous a... ORPHA:1979
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Lack of facial subcutaneous fat, Absence of sub... ORPHA:90156
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Ruijs-Aalfs Syndrome
Hepatocellular carcinoma, Lipodystrophy, Elbow flexion contracture OMIM:616200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista... ORPHA:79083
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Acrogeria
Lipoatrophy ORPHA:2500
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Short Syndrome
Glucose intolerance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Benign Paroxysmal Torticollis Of Infancy
Drowsiness, Torticollis, Pallor, Ataxia ORPHA:71518
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase OMIM:615453
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:28
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Congenital generalized lipodystrophy OMIM:608154
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Li... ORPHA:280365
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Coma, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyper... ORPHA:263455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dystonia, Lethargy, Hepatic steatosis ORPHA:26792
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lipodystrophy, Panniculitis, Flexion contracture, Hepatomegaly, Hy... OMIM:617591
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, ... OMIM:201475
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elbow flexion contractu... OMIM:616516
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Retinitis Pigmentosa 42
Pallor OMIM:612943
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Hypoglycemia OMIM:618120
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Insulinoma
Coma, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Polyph... ORPHA:97279
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated hepatic tr... OMIM:614817
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystr... OMIM:613327
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Lipoatrophy ORPHA:2617
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hyperammonemia, Hepatic failure OMIM:618567
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, ... OMIM:619386
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98855
Stiff Skin Syndrome
Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Aredyld Syndrome
Abnormal dental enamel morphology, Lipoatrophy, Hepatomegaly, Type I diabetes mellitus, Type II d... ORPHA:1133
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture ORPHA:75496
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Congenital Analbuminemia
Hypercholesterolemia, Lipodystrophy, Hyperlipidemia ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Flexion contracture, Hepatomegaly, Splenomegaly, Generalized lipodystrophy OMIM:619183
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy ORPHA:261304
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Retinitis Pigmentosa 81
Pallor OMIM:617871
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue... OMIM:608594
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Dk1-Cdg
Elevated hepatic transaminase, Lipoatrophy, Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98863
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Glucose intolerance, Splenomegaly ORPHA:75563
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Generalized aminoaciduria, Postprandial hyperglycemia, Im... ORPHA:2088
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Hyperammonemia OMIM:604273
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Hypertriglyceridemia, Decreased cervical spine flexio... ORPHA:98853
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomega... OMIM:212138
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Loss ... ORPHA:156
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Breath-Holding Spells
Pallor, Loss of consciousness OMIM:607578
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Hypoglycemia, Hepatomegaly, Hyperammonemia OMIM:246450
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Retinitis Pigmentosa 60
Pallor OMIM:613983
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Mpi-Cdg
Hepatic failure, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Argininemia
Micronodular cirrhosis, Postnatal growth retardation, Cholestasis, Hepatomegaly, Hyperargininemia... OMIM:207800
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hyperammonemia, Pancreatitis ORPHA:289916
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglyc... ORPHA:99901
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Keppen-Lubinsky Syndrome
Flexion contracture, Generalized lipodystrophy, Absence of subcutaneous fat OMIM:614098
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Elevated hepatic transaminase, Nonke... OMIM:608836
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycos... ORPHA:2089
Hemochromatosis Type 2
Lethargy, Elevated hepatic transaminase, Congenital hepatic fibrosis, Diabetes mellitus, Abnormal... ORPHA:79230
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Hyperammonemia, Pancreatitis, Splenomegaly ORPHA:79312
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Elevated hepatic transaminase, Hypoketotic hypo... ORPHA:159
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Hepatomegaly, Acute hyperammonemia, Hyperalaninemia, Hyperammonemia ORPHA:927
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618416
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple... OMIM:300635
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hypoketotic hypoglycemia, Hepatic steatosis, Decreased plasma f... ORPHA:228308
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis OMIM:619273
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Lipodystrophy, Diabetes mellitus OMIM:270450
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Mitochondrial Trifunctional Protein Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Cholestasis, Elevated circulating acylca... OMIM:609015
Primary Lateral Sclerosis, Juvenile
Dysphagia, Spastic gait, Pallor OMIM:606353
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes... OMIM:609069
Cirrhosis, Familial
Micronodular cirrhosis, Jaundice, Lethargy OMIM:215600
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:201450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Increased level of L-glutamic acid in blood OMIM:237310
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Propionic Acidemia
Hyperglycinemia, Hypoglycemia, Hepatomegaly, Hyperglycinuria, Pancreatitis, Hyperammonemia OMIM:606054
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Lethargy, Elevated hepatic transaminase OMIM:610498
Becker Nevus Syndrome
Lipoatrophy ORPHA:64755
Early Myoclonic Encephalopathy
Dysphagia, Lethargy ORPHA:1935
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Shagreen patch, Umbilical hernia ORPHA:2963
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperammonemia, Hypoglycemia OMIM:614739
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Lethargy ORPHA:254857
Lujo Hemorrhagic Fever
Coma, Lethargy, Acute hepatic failure ORPHA:319213
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Flexion contracture, Hypertriglycerid... OMIM:616222
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Citrullinemia Type I
Hyperammonemia, Elevated plasma citrulline, Hepatic failure ORPHA:247525
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Hyperlipidemia,... ORPHA:369
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Pancreatitis ORPHA:27
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Panniculitis OMIM:617099
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Optic Atrophy 9
Pallor OMIM:616289
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:617872
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Hyperglyc... OMIM:175700
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia OMIM:618683
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Postnatal growth reta... OMIM:617093
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Camptodactyly of finger, Hyperammonemia, Flexion contracture ORPHA:1194
Premature Aging Syndrome, Penttinen Type
Lipoatrophy OMIM:601812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Hepatomegaly, Methylmalonic acidemia, Pancreatitis, Hyperammonemia OMIM:251000
Glutamine Deficiency, Congenital
Hypoglutaminemia, Camptodactyly, Flexion contracture, Neonatal death, Hyperammonemia OMIM:610015
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy OMIM:614008
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Acute hepat... ORPHA:1667
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Lipodystrophy OMIM:219200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
H Syndrome
Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Hernia, Diabetes mellitus, Hepatosplenomegaly ORPHA:168569
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Rft1-Cdg
Hepatomegaly ORPHA:244310
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Pallor, Lethargy ORPHA:49827
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Developmental And Epileptic Encephalopathy 82
Hyperammonemia OMIM:618721
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Coma, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatos... ORPHA:348
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Hypoglycemia OMIM:615751
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Evans Syndrome
Jaundice, Petechiae, Lethargy, Pallor ORPHA:1959
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating... OMIM:232400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatomeg... ORPHA:26793
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycerol Kinase Deficiency
Coma, Loss of consciousness, Lethargy, Hypoglycemia OMIM:307030
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hypoglycemia, Acute pancreatitis, Hepa... ORPHA:26791
Graft Versus Host Disease
Acute hepatitis, Elevated hepatic transaminase, Lipodystrophy, Chronic hepatitis, Dupuytren contr... ORPHA:39812
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Severe Canavan Disease
Inability to walk, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Pallor, Ataxia OMIM:500007
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cushing Disease
Lipodystrophy, Diabetes mellitus ORPHA:96253
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Fucosidosis
Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder ORPHA:349
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Lethargy, Splenomegaly OMIM:602390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly OMIM:615234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Splenomegaly OMIM:613313
Maple Syrup Urine Disease
Coma, Lethargy, Ataxia, Hypoglycemia, Pancreatitis OMIM:248600
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatic fibrosis, Hepatomegaly, Elevated circu... OMIM:207900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor, Ataxia OMIM:613839
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Gait ataxia, Unsteady gait OMIM:618158
Classic Galactosemia
Dystonia, Lethargy, Elevated hepatic transaminase, Gait disturbance, Ataxia, Hypoglycemia, Hepato... ORPHA:79239
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hypogly... OMIM:261680
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Lethargy, Ataxia ORPHA:71277
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Hypertriglyceridemia, In... ORPHA:444490
Citrullinemia, Classic
Hypoargininemia, Cirrhosis, Hyperglutaminemia, Hepatomegaly, Hyperammonemia, Episodic ammonia int... OMIM:215700
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Spontaneous Periodic Hypothermia
Gait disturbance, Pallor, Reduced consciousness/confusion, Ataxia ORPHA:29822
Hsd10 Disease, Infantile Type
Hyperammonemia, Hypoglycemia ORPHA:391428
Isolated Sedoheptulokinase Deficiency
Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Flexion contracture, Steatorrhea,... ORPHA:440713
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy OMIM:618922
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hypoargininemia, Hyperammonemia, Episodic ammonia intoxication OMIM:237300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Dystonia, Lethargy, Ataxia OMIM:618226
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Beta-Ketothiolase Deficiency
Hyperammonemia, Hyperuricemia, Hypoglycemia, Hepatomegaly, Hyperglycemia ORPHA:134
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Hypoglycemia OMIM:618958
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Elevated hepatic transaminase, Nonketotic hypoglycemia, Hyperuricemia, Acute panc... ORPHA:20
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hyperammonemia, Hyperglutaminemia, Episodic ammonia intoxication OMIM:311250
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Dysphagia, Ataxia, Bradykinesia, Drowsiness, Oculogyric crisis, Falls, Pallor ORPHA:13
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Elevated hepatic transaminase ORPHA:890
Growth Hormone Insensitivity Syndrome
Diabetes mellitus, Hypoglycemia, Type II diabetes mellitus, Insulin resistance ORPHA:181393
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Lethargy, Ataxia OMIM:614299
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepati... ORPHA:228305
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Visceral Steatosis, Congenital
Coma, Lethargy, Hepatic steatosis, Hypoglycemia, Jaundice, Neonatal death OMIM:228100
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Lipodystrophy, Lipoatrophy, Type II diabetes mellitus ORPHA:902
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Hypoglycemia OMIM:300148
Pyruvate Carboxylase Deficiency
Hyperammonemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Poems Syndrome
Lipodystrophy, Diabetes mellitus ORPHA:2905
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Retinitis Pigmentosa 70
Pallor OMIM:615922
Ane Syndrome
Lipoatrophy, Multiple joint contractures ORPHA:157954
Congenital Enterovirus Infection
Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Hyperammonemia ORPHA:292
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Multiple Carboxylase Deficiency
Hyperammonemia ORPHA:148
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Splenomegaly OMIM:618398
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria ORPHA:23
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Coma, Lethargy, Hypoglycemia OMIM:229700
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Hyperammonemia, Methylmalonic acidemia, Hyperglycinemia OMIM:251110
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia OMIM:614702
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia OMIM:312170
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Hepatic steatosis, Impaired glucose tolerance, Elevated ... OMIM:617253
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Elevated hepatic transaminase, Hypoglycemia, Elevated circulating acylcarn... ORPHA:480864
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Galactosemia
Dystonia, Lethargy, Cirrhosis, Elevated hepatic transaminase, Gait disturbance, Ataxia, Hepatomeg... ORPHA:352
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor, Hepatosplenomegaly OMIM:611590
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Inguinal hernia ORPHA:357074
Azotemia, Familial
Azotemia OMIM:109160
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Hyperammonemia, Methylmalonic acidemia, Hyperglycinemia OMIM:251100
Combined Malonic And Methylmalonic Acidemia
Dystonia, Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Pallor, Splenomegaly OMIM:615631
Alstrom Syndrome
Elevated hepatic transaminase, Hyperinsulinemia, Chronic active hepatitis, Hepatic steatosis, Hyp... OMIM:203800
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Type II diabetes mellitus, Decreased HDL cholester... OMIM:618620
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating acylcarnitine concentration, El... OMIM:616878
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Pallor, Skin ulcer ORPHA:848
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Hepatic steatosis, Elevated circulating glutaric acid concentration, H... OMIM:231680
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperammonemia, Hyperalaninemia OMIM:619051
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Rift Valley Fever
Coma, Lethargy, Purpura, Cholestasis, Jaundice, Hepatic failure ORPHA:319251
Central Diabetes Insipidus
Excessive daytime somnolence, Polydipsia, Lethargy ORPHA:178029
Myxedema
Lethargy, Dry skin OMIM:255900
Retinitis Pigmentosa 27
Pallor OMIM:613750
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulating creatin... ORPHA:230
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Generalized lipodystrophy, Absence of subcutane... OMIM:616914
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Elevated hepatic transaminase OMIM:619064
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:615895
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Lethargy, Ataxia, Splenomegaly OMIM:201100
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Retinitis Pigmentosa 73
Pallor OMIM:616544
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hyperglycinuria, Hypoglycemia OMIM:210210
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture of finger, Elevated hepatic transaminase, Adipose ti... OMIM:256040
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Elevated circulating creatinine concentration, Increased b... OMIM:274150
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Pseudo-Torch Syndrome 2
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Petechiae, Decreased liver function OMIM:617397
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Beta-Thalassemia Intermedia
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Hepatosplenomegaly, ... ORPHA:231222
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Myoclonus, Intractable, Neonatal
Dysphagia, Athetosis, Pallor OMIM:617235
Hyperphenylalaninemia, Bh4-Deficient, B
Dysphagia, Dystonia, Lethargy OMIM:233910
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Multiple lipomas ORPHA:276280
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:95717
Typhoid
Coma, Lethargy, Ataxia, Hepatomegaly, Splenomegaly ORPHA:99745
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Elevated hepatic ... OMIM:616860
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Cholecystitis ORPHA:778
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Ataxia, Hypoglycemia ORPHA:48431
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Biotinidase Deficiency
Hepatomegaly, Hyperammonemia, Splenomegaly OMIM:253260
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Ebola Hemorrhagic Fever
Coma, Lethargy, Acute hepatic failure ORPHA:319218
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Jaundi... ORPHA:540
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly OMIM:613673
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Symptomatic Form Of Hemochromatosis Type 1