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
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... 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, Type II diabetes mellitus, Pancreatitis, Lipodystrophy OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic tr... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Reduced subcutaneous adipose tissu... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Pressure-Induced Localized Lipoatrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90160
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M... OMIM:604367
Drug-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90157
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Progressive ... OMIM:613913
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Insulin resistan... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90159
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal... OMIM:603471
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis OMIM:615238
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Lipodystrophy, Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Analbuminemia
Hypercholesterolemia, Lipodystrophy OMIM:616000
Patent Ductus Venosus
Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis OMIM:601466
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture OMIM:184900
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hyp... ORPHA:276608
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss... OMIM:615381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Pallor, Lethargy ORPHA:79283
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperp... ORPHA:276580
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Splenomegaly, Hepatic fibrosis, ... OMIM:271500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Increased intramuscular fat, Hepatomegaly, Loss of truncal subcutaneous adi... OMIM:151660
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of... OMIM:606762
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Type I diabetes mellitus, Hepatosplenomegaly, Lipodystrophy, Hepatic f... OMIM:619858
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Galactosemia Iv
Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic islet hyperp... ORPHA:276575
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure ORPHA:664
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Hepatic hemangioma ORPHA:141184
Idiopathic Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90158
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Multiple lipomas, Lipodystrophy OMIM:151800
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Propionic Acidemia
Hyperammonemia, Hypoglycemia, Hepatomegaly ORPHA:35
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hepatomegaly, Hyperinsulinemia, Reduc... ORPHA:363400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Ixc
Postnatal growth retardation, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating... OMIM:613027
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Adipose ti... ORPHA:528
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Lipodystrophy ORPHA:300536
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... ORPHA:2457
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia ORPHA:6
Familial Multiple Lipomatosis
Insulin resistance, Increased adipose tissue, Hyperlipidemia, Lipodystrophy ORPHA:199276
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinemia OMIM:238750
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal... ORPHA:3124
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... ORPHA:99886
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Impaired gluconeogenesis, Microvesic... OMIM:212140
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipoatrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Lipodystrophy, Type I diab... ORPHA:1979
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:261650
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Centrifugal Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lack of facial sub... ORPHA:90156
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Progressive loss of facial adipose tissue, Loss of trun... OMIM:608709
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Loss... ORPHA:79083
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia, Hypoglycemia, Pancreatitis OMIM:620137
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary cirrhosis, Hypoglycemia, Hyperammone... OMIM:620454
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated... OMIM:615158
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... OMIM:608612
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Recu... OMIM:620357
Acrogeria
Lipoatrophy ORPHA:2500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Congenital generalized lipodystrophy OMIM:608154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Increased adipose tissue around the neck, L... OMIM:248370
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly ORPHA:28
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Infantile Liver Failure Syndrome 2
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic ... OMIM:616483
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pann... OMIM:617591
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:280365
Stiff Skin Syndrome
Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Elevated circulating alanine aminotransferase concentration, Hyperammonemia,... OMIM:617049
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Decreased liver function, Intrahepatic cholestasis, Jaundice, Hypog... OMIM:617093
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Panniculitis, Hepatomegaly, Hyperinsu... ORPHA:79086
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:607616
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion c... OMIM:618120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul... OMIM:201475
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Congenital Disorder Of Glycosylation, Type Il
Splenomegaly, Hepatomegaly, Lipodystrophy, Hypocholesterolemia OMIM:608776
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Finger joint contracture OMIM:212112
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Pallor, Lethargy OMIM:613561
Mitochondrial Dna Depletion Syndrome 17
Hyperammonemia, Low plasma citrulline, Hepatic failure OMIM:618567
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Shagreen patch ORPHA:2617
Congenital Analbuminemia
Hyperlipidemia, Hypercholesterolemia, Lipodystrophy ORPHA:86816
Aredyld Syndrome
Lipoatrophy, Hepatomegaly, Abnormal dental enamel morphology, Splenomegaly, Type II diabetes mell... ORPHA:1133
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Panniculitis, Hepatomegaly, Splenomegaly, Flexion contracture OMIM:619183
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Adipose tissue loss, Hyperglycemia, Hepatic ... OMIM:246200
Alg3-Cdg
Decreased liver function, Arthrogryposis multiplex congenita, Lipodystrophy ORPHA:79321
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:263455
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Atypical scarring of skin, Atrophic scars, Lipodystrophy ORPHA:75496
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619386
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Hepatocellular carcinoma, Lipodystrophy OMIM:616200
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy ORPHA:261304
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:246900
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration, Elevate... OMIM:614817
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Lethargy ORPHA:26792
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Homoc... OMIM:238970
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:613327
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Pallor, Diabetes mellitus, Lethargy ORPHA:49827
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy OMIM:618048
X-Linked Sideroblastic Anemia
Pallor, Glucose intolerance, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content... ORPHA:2088
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Splenomegaly, Increased circulating ferritin concen... OMIM:603552
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Impaired glucose tolerance... OMIM:606069
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ele... OMIM:212138
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Steatorrhea, Decreased HDL cholesterol concentrati... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Eleva... OMIM:619048
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis OMIM:619273
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Benign Paroxysmal Torticollis Of Infancy
Pallor, Apathy ORPHA:71518
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Dietary Iron Overload Disease
Increased circulating ferritin concentration, Hepatomegaly, Abnormal pancreas morphology, Hepatoc... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... OMIM:620300
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Insulin resistance, Diabetes m... ORPHA:3163
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis, Hyperprolinemia, Hyperalaninemia OMIM:615918
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Postprandial hyperglycemia, Ketotic hypo... ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Neonatal death, Elevated circulating hepatic transaminase concentration, Let... OMIM:610498
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia ORPHA:927
Riboflavin Deficiency
Hypoglycemia, Lethargy OMIM:615026
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Propionic Acidemia
Hepatomegaly, Pancreatitis, Hyperglycinuria, Hyperammonemia, Hypoglycemia, Hyperglycinemia OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Hepatomegaly, Pancreatitis ORPHA:289916
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:79230
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperammonemia, Hypoglycemia, Hyperalaninemia OMIM:614739
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Argininemia
Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Cholestasis, Hyperargininemia, Hyper... OMIM:207800
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Insulinoma
Hyperinsulinemia, Polyphagia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic h... ORPHA:97279
Becker Nevus Syndrome
Lipoatrophy ORPHA:64755
Combined Oxidative Phosphorylation Deficiency 10
Hyperammonemia, Hypoglycemia, Hyperalaninemia OMIM:614702
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hyperlipidemia OMIM:617885
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypoglycemia, Hypo... ORPHA:159
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Progeroid Syndrome, Petty Type
Lipoatrophy, Shagreen patch, Reduced subcutaneous adipose tissue, Umbilical hernia ORPHA:2963
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Cyclic Vomiting Syndrome
Anorexia, Pallor, Lethargy, Attention deficit hyperactivity disorder OMIM:500007
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc... ORPHA:228308
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Lethargy OMIM:610006
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cholestasis, E... OMIM:609015
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lipodystrophy OMIM:617099
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis, Hepatic failure OMIM:177000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Acute hepatic failure, H... OMIM:615453
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619232
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy OMIM:270450
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Acute hyperammonemia OMIM:210200
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hypoglycem... OMIM:232400
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hypoglycemia, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepat... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618416
Evans Syndrome
Petechiae, Pallor, Jaundice, Lethargy ORPHA:1959
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Hepatomegaly, Pancreatitis ORPHA:27
Glutamine Deficiency, Congenital
Camptodactyly, Hyperammonemia, Neonatal death, Flexion contracture, Hypoglutaminemia OMIM:610015
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem... ORPHA:1667
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Hypoglycemia, Hyperglycinemia OMIM:251000
Crigler-Najjar Syndrome
Abnormality of the liver, Jaundice, Lethargy ORPHA:205
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:620609
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circula... OMIM:620603
Developmental And Epileptic Encephalopathy 82
Hyperammonemia OMIM:618721
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Citrullinemia Type I
Hyperammonemia, Elevated plasma citrulline, Hepatic failure ORPHA:247525
Graft Versus Host Disease
Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentration, Acute h... ORPHA:39812
Cutis Laxa, Autosomal Recessive, Type Iia
Lipodystrophy, Inguinal hernia OMIM:219200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hyperammonemia, Hepatomegaly, Flexion contracture ORPHA:1194
H Syndrome
Hypertriglyceridemia, Camptodactyly, Diabetes mellitus, Hepatosplenomegaly, Lipodystrophy, Hernia ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 4
Hyperammonemia, Hepatomegaly OMIM:610678
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Fucosidosis
Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Hyperbilirubinemia, Shunt, Primary
Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated c... ORPHA:79240
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Lethargy, He... ORPHA:156
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low ... OMIM:615751
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly OMIM:613101
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Methylmalonic acidemia, ... OMIM:251110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Dry skin, Hyperglycemia, Diabetic ketoacidosis, Hypoglyce... OMIM:262190
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Pallor, Hepatosplenomegaly, Lethargy OMIM:611590
Werner Syndrome
Lipoatrophy, Type II diabetes mellitus, Lipodystrophy, Insulin resistance, Chondrocalcinosis ORPHA:902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Peripheral Cone Dystrophy
Pallor OMIM:609021
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
Cone-Rod Dystrophy 11
Pallor OMIM:610381
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Primary Lateral Sclerosis, Juvenile
Pallor, Dysphagia, Pseudobulbar paralysis OMIM:606353
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Decreased circulating carnitine concentration, Hyperglycinuria, Hyperleucinemia, Acute hyperammon... OMIM:210210
Isolated Atp Synthase Deficiency
Hyperammonemia, Hepatomegaly, Hyperalaninemia ORPHA:254913
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly, Lethargy OMIM:602390
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly OMIM:620282
Argininosuccinic Aciduria
Hepatomegaly, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intox... OMIM:207900
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic stea... OMIM:201450
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy OMIM:618922
Citrullinemia, Classic
Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxicatio... OMIM:215700
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininemia OMIM:237300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Central Diabetes Insipidus
Depression, Polydipsia, Lethargy, Anorexia ORPHA:178029
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Hyperammonemia, Hypoornithinemia, Umbilical hernia, Low plasma citrulline, Hypop... OMIM:219150
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Portal hypertension, Flexio... ORPHA:440713
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Premature skin wrinkling, Elevated circulating alanine aminotransferase concentrati... OMIM:617950
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly OMIM:613977
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent... ORPHA:470
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Increased circulating chylomicron concentration, Acute pancreatit... ORPHA:444490
Classic Galactosemia
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Depression, Atte... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... OMIM:606721
Hsd10 Disease, Infantile Type
Hyperammonemia, Hypoglycemia ORPHA:391428
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Poems Syndrome
Splenomegaly, Hepatomegaly, Diabetes mellitus, Lipodystrophy ORPHA:2905
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Ane Syndrome
Lipoatrophy, Multiple joint contractures ORPHA:157954
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperuricemia, Decreased circulating carnitine concentration, Elevated circulating ... OMIM:246450
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Hyperglycemia, Fl... OMIM:609069
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Hyperammonemia, Hyperglycemia, Hypoglycemia ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuricemia, A... ORPHA:20
Argininosuccinic Aciduria
Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia ORPHA:23
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Inguinal hernia ORPHA:357074
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... ORPHA:158057
Hsd10 Mitochondrial Disease
Hypoglycemia, Agitation, Restlessness, Aggressive behavior OMIM:300438
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperammonemia, Hyperalaninemia OMIM:619051
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyperglutaminemia OMIM:237310
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia OMIM:618958
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy, Dysphagia OMIM:618226
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Flexion contrac... OMIM:616222
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Elevated circulating hepatic transaminase concentration, Elevated circulat... ORPHA:480864
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration, Panniculitis, Splenomegaly OMIM:618398
Leishmaniasis
Anorexia, Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Sple... ORPHA:507
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia OMIM:613661
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly OMIM:614741
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated circulating alanine ... OMIM:607330
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly ORPHA:890
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice, Splenomegaly, Hepatomegaly OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Increased ... OMIM:267700
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice OMIM:243300
Breath-Holding Spells
Pallor OMIM:607578
Cardiomyopathy, Familial Restrictive, 6
Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Congenital Enterovirus Infection
Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatitis, Hepatic failure ORPHA:292
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Beta-Thalassemia
Skin ulcer, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis ORPHA:848
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Premature skin wrinkling ORPHA:631
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating alanine aminotransferase concentration, Hyperammonemia, Episodic ammonia int... OMIM:311250
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lethargy OMIM:619064
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Primary Myelofibrosis
Anorexia, Purpura, Hepatomegaly, Petechiae, Portal hypertension, Ecchymosis, Splenomegaly, Hepato... ORPHA:824
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro... ORPHA:158061
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Agitation, Depression, Dysphagia, Restlessness, Pallor ORPHA:13
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Absence of subcutane... OMIM:616914
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Mehmo Syndrome
Hypoglycemia, Aggressive behavior OMIM:300148
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Hypoglycemia ORPHA:67048
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Hepatomegaly, Lethargy OMIM:229700
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Elevated circulating creatine kinase con... OMIM:616878
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Elevated circulating alanine aminot... OMIM:227810
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Generalized aminoaciduria, Hepatic periportal necrosis, Glycosuria, Neona... OMIM:231680
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Increased blood urea nitrogen, Insulin resistance, Elevated circu... ORPHA:230
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Keppen-Lubinsky Syndrome
Flexion contracture, Loss of facial adipose tissue, Lipodystrophy, Congenital generalized lipodys... ORPHA:435628
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Pancreatitis, Lethargy OMIM:248600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ... OMIM:619418
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Hepatoce... ORPHA:231222
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Hepatomegaly, Flexion contracture of toe, Panniculitis, Elevated circulatin... OMIM:256040
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Prolonged neonatal jaundice, Elevated circulating creatinine conce... OMIM:274150
De Barsy Syndrome
Lipodystrophy, Inguinal hernia, Umbilical hernia ORPHA:2962
Orthostatic Hypotension 1
Increased blood urea nitrogen, Neonatal hypoglycemia, Hypomagnesemia, Elevated circulating dihydr... OMIM:223360
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria... ORPHA:552
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Biliary cirrhosis, Micronodular cirrhosis, Lethargy OMIM:215600
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Hepatomegaly, Hyperglycinemia, Methylmalonic acidemia OMIM:251100
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:95717
Optic Atrophy 1
Pallor OMIM:165500
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Eleva... OMIM:614582
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepati... ORPHA:71
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Portal hypertension, ... ORPHA:465508
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... ORPHA:98908
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Multiple lipomas ORPHA:276280
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Prolonged neonatal jaundice, Dry skin, Lethargy ORPHA:99832
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hb Bart'S Hydrops Fetalis
Pallor, Hepatomegaly, Splenomegaly ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir... ORPHA:540
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perioral erythema, Dry skin, Perianal erythema, Splenomegaly, Lethargy OMIM:201100
Dravet Syndrome
Bradykinesia, Pallor, Impulsivity, Obsessive-compulsive trait ORPHA:33069
Encephalocraniocutaneous Lipomatosis
Multiple lipomas, Lipodystrophy ORPHA:2396
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperammonemia, Elevated circulating hepatic transaminase concentration, Hyperalaninemia OMIM:615471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome... OMIM:603553
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, Hyper... OMIM:620358
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:66628
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Restlessness ORPHA:3006
Rett Syndrome
Hyperammonemia, Increased serum pyruvate, Cholecystitis ORPHA:778
Myelofibrosis
Splenomegaly, Purpura, Hepatomegaly, Pallor OMIM:254450
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Biotinidase Deficiency
Hyperammonemia, Hepatomegaly, Splenomegaly OMIM:253260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Werner Syndrome
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... OMIM:277700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:179494
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Hyperalaninemia, Hyperammonemia, Neonatal death, Umbilical hernia OMIM:614052
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Hepatomegaly, Neonatal death, Hepatic steatosis, Lethargy OMIM:614922
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Cholecystitis OMIM:266200
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Eleva... OMIM:616860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Cockayne Syndrome Type 1
Postnatal growth retardation, Scarring, Hepatomegaly, Elevated circulating hepatic transaminase c... ORPHA:90321
Combined Malonic And Methylmalonic Acidemia