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Gene: Pck1 MGI:97501

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... 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
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Pressure-Induced Localized Lipoatrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90160
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Drug-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90157
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of facial adipose tissue, Loss of ... OMIM:613913
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Panniculitis-Induced Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90159
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Lipoatrophy,... ORPHA:79084
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Diabetic ketoacidosis OMIM:615238
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Lipodystrophy, Diabetes mellitus OMIM:615980
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Knee flexion contracture, Camptodactyly OMIM:184900
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function OMIM:601466
Analbuminemia
Lipodystrophy, Hypercholesterolemia OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor, Anorexia ORPHA:79283
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Pallor, Reactive hypoglycemia, Pancreatic islet-cell ... ORPHA:276608
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
Splenoportal Vascular Anomalies
Hepatic fibrosis, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, ... OMIM:271500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... ORPHA:276556
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hepatosplenomegaly, Lipody... OMIM:619858
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice OMIM:618881
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hepatic s... OMIM:615703
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Idiopathic Localized Lipodystrophy
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90158
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Lipoatrophy ORPHA:141184
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Multiple lipomas, Lipodystrophy OMIM:151800
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication ORPHA:147
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:300536
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Hype... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Hyperlysinuria With Hyperammonemia
Hyperlysinuria, Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia OMIM:238750
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Saccharopinuria
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc... ORPHA:3124
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transient neonatal diabete... ORPHA:99886
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar... OMIM:212140
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Reduced subcutaneous adipose tissue, Lipodystrophy, Flexion contracture... ORPHA:1979
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat... ORPHA:2394
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Centrifugal Lipodystrophy
Lack of facial subcutaneous fat, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue... ORPHA:90156
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia OMIM:618856
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Acrogeria
Lipoatrophy ORPHA:2500
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Generalized lipodystrophy, Congenital generalized lipodystrophy OMIM:608154
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:28
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp... OMIM:617049
Stiff Skin Syndrome
Type II diabetes mellitus, Lipoatrophy ORPHA:2833
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, In... ORPHA:280365
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Splenomegaly, Lipodystrophy, Hypertrigly... OMIM:617591
Glycine Encephalopathy 1
Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... OMIM:618400
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hypocholesterolemia, Lipodystrophy, Splenomegaly OMIM:608776
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase con... OMIM:618120
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Finger joint contracture OMIM:212112
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Pallor, Lethargy, Hepatomegaly, Dysphagia OMIM:613561
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Mitochondrial Dna Depletion Syndrome 17
Hepatic failure, Low plasma citrulline, Hyperammonemia OMIM:618567
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Shagreen patch ORPHA:2617
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... ORPHA:1133
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Hepatomegaly, Flexion contracture, Panniculitis OMIM:619183
Alg3-Cdg
Lipodystrophy, Arthrogryposis multiplex congenita, Decreased liver function ORPHA:79321
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture ORPHA:75496
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Hypercholesterolemia ORPHA:86816
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr... OMIM:246200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, L... OMIM:619386
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Hypertriglyceridemia, Decreased cervical spine flexion due to contract... ORPHA:98855
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy ORPHA:261304
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Lipodystrophy, Hepatocellular carcinoma OMIM:616200
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Homoc... OMIM:238970
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hy... OMIM:608594
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transamin... OMIM:614817
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Pallor, Anorexia ORPHA:49827
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam... OMIM:212138
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, He... OMIM:613327
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy OMIM:618048
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Glucose intolerance ORPHA:75563
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Glycosuria, Elevated circ... ORPHA:2088
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased total bilirubin,... OMIM:608836
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Hypertriglyceridemia, Decreased cervical spine flexion due to contract... ORPHA:98863
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Hypertriglyceridemia, Decreased cervical spine flexion due to contract... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Hypertriglyceridemia, Decreased cervical spine flexion due to contract... ORPHA:98853
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre... OMIM:619048
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Benign Paroxysmal Torticollis Of Infancy
Apathy, Pallor ORPHA:71518
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis OMIM:619273
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev... OMIM:620300
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Diabetes m... ORPHA:3163
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death OMIM:615918
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hyperinsulinemia, Type... OMIM:269700
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Elevated circulating hepatic transaminase concentration, Redundant neck skin, Neonatal ... OMIM:610498
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Hepatomegaly ORPHA:927
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Propionic Acidemia
Hyperglycinuria, Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Congenital hepatic fibrosis, Lethargy, A... ORPHA:79230
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614739
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Pancreatitis, Hyperammonemia ORPHA:79312
Argininemia
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Hyperammonemi... OMIM:207800
Becker Nevus Syndrome
Lipoatrophy ORPHA:64755
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hyperammonemia, Hypoglycemia OMIM:614702
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... ORPHA:159
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Progeroid Syndrome, Petty Type
Umbilical hernia, Lipoatrophy, Reduced subcutaneous adipose tissue, Shagreen patch ORPHA:2963
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Pallor, Anorexia OMIM:500007
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:228308
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lipodystrophy OMIM:617099
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:615453
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Diabetes mellitus, Reduced subcutaneous adipose tissue OMIM:270450
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia OMIM:210200
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Evans Syndrome
Jaundice, Lethargy, Pallor, Petechiae ORPHA:1959
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:618416
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami... OMIM:615486
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Glutamine Deficiency, Congenital
Hyperammonemia, Neonatal death, Hypoglutaminemia, Camptodactyly, Flexion contracture OMIM:610015
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic trans... ORPHA:1667
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Methylmalonic acidemia OMIM:251000
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Long-Olsen-Distelmaier Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620609
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Postnatal growth retardation, Splenomegaly, Hypertr... OMIM:620603
Developmental And Epileptic Encephalopathy 82
Hyperammonemia OMIM:618721
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... OMIM:261750
Citrullinemia Type I
Hepatic failure, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Cutis Laxa, Autosomal Recessive, Type Iia
Lipodystrophy, Inguinal hernia OMIM:219200
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Fasciitis, Hepatosplenomegaly, Dupuytren... ORPHA:39812
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Flexion contracture, Hyperammonemia, Camptodactyly of finger ORPHA:1194
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
H Syndrome
Hepatosplenomegaly, Hernia, Lipodystrophy, Hypertriglyceridemia, Camptodactyly, Diabetes mellitus ORPHA:168569
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Lipoatrophy ORPHA:349
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Lethargy,... ORPHA:156
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglycinemia, Elevated ci... OMIM:251110
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly, Pallor, Anorexia OMIM:611590
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Type II diabetes mellitus, Lipodystrophy, Lipoatrophy ORPHA:902
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Bradykinesia OMIM:618683
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Camptodactyly of... OMIM:175700
Cone-Rod Dystrophy 11
Pallor OMIM:610381
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor, Pseudobulbar paralysis OMIM:606353
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:264580
Hemochromatosis, Type 2A
Hepatomegaly, Lethargy, Cirrhosis, Splenomegaly OMIM:602390
Isolated Atp Synthase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperammonemia ORPHA:254913
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyp... OMIM:210210
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hyperammonemia, Hypoglycemia OMIM:618253
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, H... OMIM:207900
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Letharg... OMIM:201450
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy OMIM:618922
Citrullinemia, Classic
Hyperammonemia, Hyperglutaminemia, Cirrhosis, Hypoargininemia, Hepatomegaly, Elevated plasma citr... OMIM:215700
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice OMIM:614876
Central Diabetes Insipidus
Lethargy, Depression, Polydipsia, Anorexia ORPHA:178029
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hypoargininemia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication OMIM:237300
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypoornithinemia, Umbilical hernia, Hyperammonemia, Inguinal hernia, Low plasma citrulline, Hypoa... OMIM:219150
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:617950
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hypertriglyce... OMIM:615558
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Wolman Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly OMIM:620151
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Classic Galactosemia
Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:79239
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Seckel Syndrome 10
Insulin resistance, Glycosuria, Elevated circulating aspartate aminotransferase concentration, Gl... OMIM:617253
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Microvesicular hepatic steatosis OMIM:616672
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Hsd10 Disease, Infantile Type
Hyperammonemia, Hypoglycemia ORPHA:391428
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Decreased liver function ORPHA:570422
Poems Syndrome
Hepatomegaly, Lipodystrophy, Diabetes mellitus, Splenomegaly ORPHA:2905
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... ORPHA:412
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Decreased adipose tissue around neck, Absence of su... OMIM:606721
Ane Syndrome
Lipoatrophy, Multiple joint contractures ORPHA:157954
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre... OMIM:205400
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased circulating carnitine concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:246450
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion ... OMIM:609069
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Hyperammonemia, ... ORPHA:20
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Decreas... OMIM:618620
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Aminoaciduria ORPHA:23
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hsd10 Mitochondrial Disease
Aggressive behavior, Restlessness, Agitation, Hypoglycemia OMIM:300438
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Inguinal hernia ORPHA:357074
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperalaninemia, Hyperammonemia OMIM:619051
N-Acetylglutamate Synthase Deficiency
Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperalaninemia OMIM:237310
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Hypoglycemia OMIM:618958
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy, Dysphagia OMIM:618226
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Temple Syndrome
Flexion contracture, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglycerid... OMIM:616222
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenomegaly, Hyperlipopro... OMIM:615947
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Splenomegaly, Anorex... 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
Hepatomegaly, Hypoglycemia OMIM:614741
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Lathosterolosis
Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva... OMIM:607330
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosi... OMIM:613313
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Pallor, Splenomegaly OMIM:615631
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia OMIM:619433
Breath-Holding Spells
Pallor OMIM:607578
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hyperammonemia ORPHA:292
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly ORPHA:848
Immunodeficiency 42
Hepatomegaly, Splenomegaly OMIM:616622
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Premature skin wrinkling ORPHA:631
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Hyperglutaminemia,... OMIM:311250
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus OMIM:613845
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration OMIM:619064
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Primary Myelofibrosis
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Anorexia, H... ORPHA:824
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Abnormal intrahepatic bile duct morphology, Lipoatrophy, Hypertriglyceridemia ORPHA:363618
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Depression, Pallor, Bradykinesia, Restlessness, Dysphagia, Agitation ORPHA:13
Marfanoid-Progeroid-Lipodystrophy Syndrome
Generalized lipodystrophy, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutane... OMIM:616914
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Mehmo Syndrome
Aggressive behavior, Hypoglycemia OMIM:300148
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Lethargy, Hypoglycemia OMIM:229700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Elevated circulating glutaric acid concentration, Glycosuria, Hypoglyc... OMIM:231680
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulating aspartate ... OMIM:227810
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Keppen-Lubinsky Syndrome
Flexion contracture, Lipodystrophy, Loss of facial adipose tissue, Congenital generalized lipodys... ORPHA:435628
Maple Syrup Urine Disease, Type Ia
Lethargy, Pancreatitis, Hypoglycemia OMIM:248600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Neonatal hypoglycemia, Increased b... OMIM:223360
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Camptodactyly of finger, Elbow flexion c... OMIM:256040
De Barsy Syndrome
Lipodystrophy, Inguinal hernia, Umbilical hernia ORPHA:2962
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b... OMIM:274150
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Hyperglycinemia, Hyperammonemia, Methylmalonic acidemia OMIM:251100
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf... ORPHA:552
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:95717
Optic Atrophy 1
Pallor OMIM:165500
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Combined Oxidative Phosphorylation Deficiency 9
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia... OMIM:614582
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Portal hypertension, Splenomegaly, Lethargy, Cirrhosis, Apathy, Chronic hepatic fa... ORPHA:465508
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... ORPHA:98908
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy ORPHA:276280
Resistance To Thyrotropin-Releasing Hormone Syndrome
Prolonged neonatal jaundice, Dry skin, Lethargy, Depression ORPHA:99832
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Dry skin, Splenomegaly, Lethargy, Hepatomegaly, Perianal erythema OMIM:201100
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pallor, 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
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Encephalocraniocutaneous Lipomatosis
Multiple lipomas, Lipodystrophy ORPHA:2396
Dravet Syndrome
Bradykinesia, Pallor, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Hyperammonemia OMIM:615471
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Neonatal death OMIM:618232
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:603553
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper... OMIM:620358
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Cholecystitis ORPHA:778
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Hyperammonemia OMIM:253260
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia OMIM:617575
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:66628
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Inguinal hernia, Hyperammonemia, Neonatal death, Hyperalaninemia OMIM:614052
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Neonatal death, Lethargy, Stillbirth, Hepatomegaly OMIM:614922
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Pallor, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Splenomegaly, Cirrho... OMIM:616860
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:179494
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:289504
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Foot joint contracture, Postnatal growth... ORPHA:90321
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Hyperammonemia, Sple... OMIM:222700
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia OMIM:201400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... ORPHA:650
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Pallor ORPHA:64280
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Flexion contracture, Lack of facial subcutaneous fat, Absence of subcu... OMIM:614098
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration OMIM:615234
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease ORPHA:5
Typhoid
Hepatomegaly, Lethargy, Splenomegaly ORPHA:99745
Alg9-Cdg
Periportal fibrosis, Hepatic cysts, Lipodystrophy, Omphalocele, Hepatomegaly ORPHA:79328
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Inguinal hernia, Pancreatitis, Hyperhomocy... OMIM:236200
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... OMIM:619481
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, He... ORPHA:189427
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Generalized lipodystrophy, Glucose intol... OMIM:619127
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Hyperlysinemia
Hypoornithinemia, Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Cystinuria, Argininuria ORPHA:2203
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemi... ORPHA:79259
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lipodystrophy, Camptodacty... ORPHA:86309
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabet... OMIM:557000
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma ORPHA:60
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Hypoglycemia, Hyperammonemia, Hypomethio... ORPHA:79282
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:245400
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Dengue Fever
Hepatomegaly, Lethargy, Petechiae ORPHA:99828
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Premature Aging Syndrome, Penttinen Type
Keloids, Flexion contracture of finger, Lipoatrophy, Joint contracture OMIM:601812
Barber-Say Syndrome
Lipodystrophy OMIM:209885
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Pseudo-Torch Syndrome 2
Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Petechiae OMIM:617397
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Acut... OMIM:256810
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Temple Syndrome
Polyphagia, Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hepatitis, Hypoglycemia, Dry skin, Lethargy, Anorexia ORPHA:199299
Meningococcal Meningitis
Lethargy, Purpura, Petechiae, Anorexia ORPHA:33475
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Lethargy OMIM:250940
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy OMIM:614008
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ... ORPHA:2298
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Gen... ORPHA:79474
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Transient aminoaciduria, Glycosuria, Hyp... OMIM:229600
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Dry skin, Hypoglycemia OMIM:619075
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Dihydropyrimidinase Deficiency
Elevated circulating aspartate aminotransferase concentration, Lethargy, Elevated circulating ala... OMIM:222748
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hypoglycemic seizures, Neonatal hypoglycemia, Hepatitis ORPHA:199296
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:79644
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Lethargy OMIM:614299
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Susac Syndrome
Lethargy, Apathy ORPHA:838
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis ORPHA:254346
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypoketotic hypoglycemia, Lethargy, Chronic hepatic failure, Diffuse hepatic steatosis ORPHA:746
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, Hyperglycemia, Impulsivity, Lethargy, Hyperactivity, Agit... OMIM:620423
Dominant Beta-Thalassemia
Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Cirrhosis,... ORPHA:231226
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Elevated circulating hepatic transaminase concentration, Glycosuria,... OMIM:616026
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:615710
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hyperinsulinemia, Reduced sub... ORPHA:508
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, L... ORPHA:99885
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:3226
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Tay-Sachs Disease
Apathy, Pallor OMIM:272800
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Holocarboxylase Synthetase Deficiency
Hyperammonemia OMIM:253270
Plummer-Vinson Syndrome
Pallor, Dysphagia, Geophagia ORPHA:54028
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Cholelithiasis, Apathy, Ketotic hypoglycemia OMIM:620646
Retinitis Pigmentosa 51
Pallor OMIM:613464
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Neonatal death OMIM:618839
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly ORPHA:75564
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ... ORPHA:90062
Gaisböck Syndrome
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabe... ORPHA:90041
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:124000
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Aromatic L-Amino Acid Decarboxylase Deficiency
Dysphagia, Hypoglycemia ORPHA:35708
Staphylococcal Necrotizing Pneumonia
Addictive alcohol use, Lethargy, Diabetes mellitus ORPHA:36238
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... OMIM:617600
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Multiple joint contr... ORPHA:51
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Neonatal Marfan Syndrome
Flexion contracture, Lipoatrophy ORPHA:284979
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato... OMIM:616263
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Recu... ORPHA:94086
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:610198
Hereditary Fructose Intolerance
Reactive hypoglycemia, Lethargy, Chronic hepatic failure, Hepatomegaly, Jaundice ORPHA:469
Ebola Hemorrhagic Fever
Dysphagia, Lethargy, Acute pancreatitis, Hepatitis ORPHA:319218
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Lethargy OMIM:604377
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ... ORPHA:99826
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Lethargy, Abnormal glucose homeostasis ORPHA:391673
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Agitation OMIM:619046
Fish-Eye Disease
Hepatomegaly, Splenomegaly ORPHA:79292
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Lethargy ORPHA:95716
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Beta-Thalassemia Major
Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, Splenomegaly, Cirrhosis,... ORPHA:231214
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Methylcobalamin Deficiency Type Cble
Lethargy, Abnormality of the liver ORPHA:2169
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Aggressive behavior, Severe temper tantrums, Hypoglycemia OMIM:617710
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Elevated circulating hepatic transa... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Splenomegaly ORPHA:90033
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Attention deficit hyperactivity disorder, Hyperactivity, Hypoglycemia ORPHA:73272
Aromatase Deficiency
Insulin resistance, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis ORPHA:91
Isolated Complex I Deficiency
Hepatomegaly, Lethargy, Diabetes mellitus, Hypoglycemia ORPHA:2609
Hereditary Spherocytosis
Cholelithiasis, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Methanol Poisoning
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia ORPHA:31825
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Isovaleric Acidemia
Lethargy OMIM:243500
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo... ORPHA:2126
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi... ORPHA:77293
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Hyperammonemia, Inguinal hernia, Microvesicular hepatic steatosis, I... OMIM:220111
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Elevated circulating hepatic transaminase concentration, Abnormality of the liver, Gl... ORPHA:254892
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Hyperglycemia, Absent gallbladder, Inguinal ... OMIM:600001
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr... ORPHA:157
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232220
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Wrinkly Skin Syndrome
Lipodystrophy, Inguinal hernia, Umbilical hernia ORPHA:2834
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Dry skin, Lethargy, Attention deficit hyperactivity disorder, Prolonged neonatal jaun... ORPHA:90674
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Congenital Heart Block
Pallor ORPHA:60041
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale... OMIM:619377
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Hypoglycemia OMIM:607143
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Ogden Syndrome
Lethargy, Cutis laxa ORPHA:276432
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:615595
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Neonatal death OMIM:605711
Biotinidase Deficiency
Hyperammonemia ORPHA:79241
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Rheumatic Fever
Erythema, Pallor, Anorexia ORPHA:3099
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Type II diabetes mellitus, Polyphagia, Lethargy, Skin-picking ORPHA:398079
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia OMIM:606407
Developmental And Epileptic Encephalopathy 50
Hyperammonemia OMIM:616457
Scrub Typhus
Lethargy, Splenomegaly ORPHA:83317
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypomagnese... ORPHA:699
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Laron Syndrome
Hypoglycemia ORPHA:633
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly OMIM:620296
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Type II diabetes mellitus, Polyphagia, Lethargy, Skin-picking, Compulsi... ORPHA:398069
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:95428
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Ventral hernia, Hypertrigly... ORPHA:536532
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Cholera
Palmoplantar cutis laxa, Lethargy, Hypoglycemia ORPHA:173
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Cole Disease
Hyperglycemia OMIM:615522
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep... ORPHA:300298
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Elevated circulat... ORPHA:66634
Harderoporphyria
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Glycerol Kinase Deficiency
Hyperglycerolemia, Chronic pancreatitis, Hypoglycemia, Hypertriglyceridemia OMIM:307030
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepat... OMIM:619487
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly OMIM:618107
Waldenström Macroglobulinemia
Pallor, Splenomegaly, Anorexia, Hepatomegaly, Purpura ORPHA:33226
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Aggressive behavior, Lethargy, Erythema OMIM:618321
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Monosomy 13Q34
Insulin resistance, Hypercalcemia, Hepatic steatosis ORPHA:96168
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Pallor ORPHA:98870
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Sepsis In Premature Infants
Decreased liver function, Pallor, Splenomegaly, Petechiae, Hepatomegaly, Jaundice, Purpura ORPHA:90051
Hereditary Folate Malabsorption
Pallor, Anorexia ORPHA:90045
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Mul... ORPHA:2959
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:331206
Histiocytoid Cardiomyopathy
Hepatomegaly, Lethargy, Pallor, Hypoglycemia ORPHA:137675
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy, Dysphagia OMIM:607483
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Hypoglycemia, Elevated circulating aspartate aminotransferase concentra... OMIM:608779
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis ORPHA:445038
Wolman Disease
Ascites, Hepatomegaly, Hepatic failure, Splenomegaly ORPHA:75233
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Immunodeficiency 10
Hepatomegaly, Splenomegaly, Hypoglycemia OMIM:612783
Prader-Willi Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Decrease... OMIM:176270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Retinitis Pigmentosa 75
Pallor OMIM:617023
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Alagille Syndrome 1
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... OMIM:118450
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuricemia, Hepatoblastoma, H... OMIM:232240
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Reduced number of intrahepatic bile ducts ORPHA:79284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Cholestasis, Hepatomegaly, Lethargy OMIM:620233
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis ORPHA:436271
Myopathy, Mitochondrial, And Ataxia
Depression, Pallor OMIM:617675
Silver-Russell Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Hypoglycemia ORPHA:397590
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegaly, S... OMIM:614866
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis OMIM:616271
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy ORPHA:226316
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased circ... ORPHA:167
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia ORPHA:31150
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Renal Hypoplasia, Bilateral
Lethargy, Glycosuria ORPHA:97362
Proteus Syndrome
Abnormal dental enamel morphology, Splenomegaly, Abnormal subcutaneous fat tissue distribution, L... ORPHA:744
Shigellosis
Hepatic failure, Hypoglycemia, Cholestasis, Peritonitis, Splenic abscess, Anorexia, Purpura ORPHA:810
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Microvesicular hepatic steatosis OMIM:620601
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Timothy Syndrome
Hypoglycemia OMIM:601005
Wiedemann-Rautenstrauch Syndrome
Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Flexion c... OMIM:264090
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Camptodactyly of finger, Loss of facial adipose ti... ORPHA:3455
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Lethargy OMIM:277380
D-Glyceric Aciduria
Tongue thrusting, Hypoglycemia OMIM:220120
Hypermanganesemia With Dystonia 1
Hepatomegaly, Cirrhosis, Decreased liver function, Elevated circulating hepatic transaminase conc... OMIM:613280
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Motor stereotypy, Aggressive behavior, Hypoglycemia ORPHA:457279
Aregenerative Anemia
Depression, Pallor ORPHA:101096
Transcobalamin Ii Deficiency
Hepatomegaly, Lethargy OMIM:275350
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Increas... ORPHA:17
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hepatomegaly, Lethargy, Pallor OMIM:277400
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Pituitary Apoplexy
Pallor, Hypoglycemia ORPHA:95613
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Dend Syndrome
Hyperglycemia ORPHA:79134
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Congenital Syphilis
Hypoglycemia, Hepatosplenomegaly, Palmoplantar scaling skin, Petechiae, Pancreatitis, Prolonged n... ORPHA:499009
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Flexion contracture OMIM:617303
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Pallor, Aggressive behavior, Anorexia, Dysphagia, Impulsivity ORPHA:2131
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Lethargy ORPHA:90673
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Hypoglycemia, Splenomegaly, Lethargy, Hepatomegaly OMIM:252010
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Depression, Pallor OMIM:301310
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia OMIM:619355
Sheehan Syndrome
Dry skin, Pallor, Hypoglycemia ORPHA:91355
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Bloom Syndrome
Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis, Postnatal growth retardation OMIM:210900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Increased intramyocellular lipid droplets, H... OMIM:220110
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Hypoglycemia, Neonatal death OMIM:619055
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Increased muscle lipid content, Splenomegaly, Elevated circulating creatine kinas... ORPHA:565612
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Glycosuria, Reduced haptoglobin level, Jaundice, Increa... ORPHA:447
Mirage Syndrome
Hypoplastic spleen, Petechiae, Hypoglycemia OMIM:617053
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Generalized aminoaciduria, Hypotriglyceridemia, Elevat... ORPHA:404454
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate... OMIM:615356
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Sotos Syndrome
Glucose intolerance, Aggressive behavior, Attention deficit hyperactivity disorder, Prolonged neo... OMIM:117550
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pal... ORPHA:3260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... OMIM:263200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepatomegal... OMIM:301066
Medulloblastoma
Lethargy, Elevated circulating hepatic transaminase concentration ORPHA:616
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Panhypophysitis
Polydipsia, Pallor ORPHA:95513
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia OMIM:233600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Pallor, Splenomegaly ORPHA:98849
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Hypoketotic hypoglycemia OMIM:610768
Trichinellosis
Lethargy, Apathy, Dysphagia ORPHA:863
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hep... OMIM:276700
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Im... ORPHA:110
Acute Adrenal Insufficiency
Salt craving, Dry skin, Hypoglycemia, Anorexia ORPHA:95409
Esophageal Atresia
Pallor, Dysphagia, Maternal diabetes, Oral aversion ORPHA:1199
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:79318
Complete Atrioventricular Septal Defect
Hepatomegaly, Lethargy ORPHA:1329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Leigh Syndrome
Hepatic failure, Dysphagia, Hypoglycemia ORPHA:506
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Scaling skin ORPHA:35173
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Neonatal hypoglycemia ORPHA:447788
Encephalitis Lethargica
Lethargy ORPHA:83600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Lethargy, Hypoglycemia ORPHA:226307
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... ORPHA:171
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Anorexia ORPHA:361
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Neonatal hypoglycemia, Dysphagia ORPHA:572798
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia ORPHA:293987
Amoebiasis Due To Free-Living Amoebae
Lethargy, Restlessness, Skin ulcer ORPHA:68
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice OMIM:603903
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Scorpion Envenomation
Hyperglycemia, Elevated circulating aspartate aminotransferase concentration, Acute pancreatitis,... ORPHA:466677
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Familial Hypoaldosteronism
Lethargy ORPHA:427
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... OMIM:619525
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Addison Disease
Type I diabetes mellitus, Hypoglycemia, Dry skin, Salt craving, Anorexia ORPHA:85138
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Azotemia, Hepatic steatosis OMIM:619321
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Kufor-Rakeb Syndrome
Lethargy, Bradykinesia, Apathy, Dysphagia ORPHA:306674
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... OMIM:618278
Aicardi-Goutieres Syndrome 7
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatic steatosis, Hepatom... OMIM:615846
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Glutaryl-Coa Dehydrogenase Deficiency
Dysphagia, Fasting hypoglycemia ORPHA:25
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia OMIM:620451
Posterior Urethral Valve
Lethargy ORPHA:93110
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hypoglycemia ORPHA:90790
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Exercise-Induced Malignant Hyperthermia
Dry skin, Lethargy, Hepatic failure, Decreased liver function ORPHA:466650
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Microvesicular hepatic steatosis, Knee flexion contra... OMIM:300868
Degcags Syndrome
Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pallor, Abnormal spleen morphology, H... OMIM:619488
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Hyperlipidemia ORPHA:1830
Prolactinoma
Pallor ORPHA:2965
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Hepatic steatosis, Elevated circ... OMIM:270400
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Pallor, Diabetes mellitus ORPHA:544482
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin, Lethargy OMIM:218700
Ogden Syndrome
Umbilical hernia, Postnatal growth retardation, Hyperbilirubinemia, Inguinal hernia, Microvesicul... OMIM:300855
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Dysphagia, Neonatal death OMIM:617248
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Redundant skin, Recurrent hypoglycemia ORPHA:79324
Alobar Holoprosencephaly
Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia ORPHA:93926
Lobar Holoprosencephaly
Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia ORPHA:93924
Semilobar Holoprosencephaly
Depression, Attention deficit hyperactivity disorder, Lethargy, Apathy, Dysphagia ORPHA:220386
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Menkes Disease
Prolonged neonatal jaundice, Dry skin, Hypoglycemia ORPHA:565
Multiple Endocrine Neoplasia, Type I
Insulinoma, Pancreatic islet cell adenoma, Hypoglycemia OMIM:131100
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Oral aversion, Fasting hypoglycemia ORPHA:96182
Deeah Syndrome
Exocrine pancreatic insufficiency, Self-mutilation, Hepatomegaly, Neonatal hypoglycemia, Dysphagia OMIM:619004
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Diamond-Blackfan Anemia
Lethargy, Pallor ORPHA:124
Glycine Encephalopathy
Lethargy ORPHA:407
Von Hippel-Lindau Disease
Pancreatic cysts, Pancreatic islet cell adenoma, Pallor, Neoplasm of the pancreas ORPHA:892
Holoprosencephaly
Abnormality of the spleen, Diabetes mellitus, Hypoglycemia ORPHA:2162
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pallor, Splenomegaly ORPHA:667
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Anemic pallor, Annular pancreas OMIM:227646
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis OMIM:619934
Multiple Endocrine Neoplasia Type 1
Depression, Insulinoma, Lethargy, Anorexia, Neoplasm of the pancreas ORPHA:652
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:267000
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Hyperbilirubinemia, Hepatic steatosis, Elevated circulating hepatic transaminase concen... OMIM:619475
Neuroblastoma
Anemic pallor ORPHA:635
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Redundant skin, Sp... ORPHA:116
Alström Syndrome
Insulin resistance, Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase ... ORPHA:64
Simpson-Golabi-Behmel Syndrome
Polysplenia, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatoblastoma, Hepat... ORPHA:373
Hydranencephaly
Lethargy ORPHA:2177
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Cholestasis, Elbow flexion contracture, Hepatosplenomegaly, Portal hypertension, ... OMIM:619503
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Cystic Fibrosis
Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis... OMIM:219700
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Abnormality of the spleen, Abnormality of the liver, H... ORPHA:1606
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Eisenmenger Syndrome
Hepatomegaly, Lethargy, Abnormality of the liver ORPHA:97214
Digeorge Syndrome
Cholelithiasis, Umbilical hernia, Splenomegaly, Hepatic steatosis, Inguinal hernia, Hypocalcemia,... OMIM:188400
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Pineoblastoma
Lethargy ORPHA:251909
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Costello Syndrome
Redundant neck skin, Hypoglycemia OMIM:218040
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus ORPHA:3464
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Neonatal hypoglycemia, Pancreatic hyperplasia OMIM:130650
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia ORPHA:3337
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Fabry Disease
Hyperlipidemia, Abnormal circulating lipid concentration ORPHA:324
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Neonatal hypoglycemia ORPHA:90794
Sotos Syndrome
Prolonged neonatal jaundice, Aggressive behavior, Attention deficit hyperactivity disorder, Neona... ORPHA:821

Histopathology

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

There is no histopathology data for Pck1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pck1.

No publications found that use IMPC mice or data for Pck1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pck1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pck1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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