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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
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... 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, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90159
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis OMIM:615238
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Hepatic steatosis OMIM:615980
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Analbuminemia
Hypercholesterolemia, Lipodystrophy OMIM:616000
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy ORPHA:154
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Stiff Skin Syndrome
Elbow flexion contracture, Lipodystrophy, Camptodactyly, Knee flexion contracture OMIM:184900
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor, Anorexia ORPHA:79283
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Agitation, Pallor, Pancreatic islet-cell hyperplasia, Fa... ORPHA:276608
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Pallor, Diff... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Pa... ORPHA:276556
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Autoinflammatory-Pancytopenia Syndrome
Lipodystrophy, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Type I diabetes m... OMIM:619858
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Pallor, Diffuse pancreatic isle... ORPHA:276575
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy ORPHA:50811
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90158
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... ORPHA:2348
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure ORPHA:664
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Hepatic hemangioma ORPHA:141184
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Elevated c... OMIM:615160
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Congenital Short Bowel Syndrome
Lipoatrophy ORPHA:2301
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Adipose tissue loss, Insuli... ORPHA:528
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy ORPHA:300536
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Flexion contracture, Type I diab... ORPHA:1979
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub... ORPHA:90156
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia OMIM:238750
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... ORPHA:2394
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper... ORPHA:79083
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
C3 Glomerulopathy
Lipodystrophy ORPHA:329918
Acrogeria
Lipoatrophy ORPHA:2500
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Congenital generalized lipodystrophy, Generalized lipodystrophy OMIM:608154
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617049
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... OMIM:617591
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:28
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy OMIM:605899
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Finger joint contracture OMIM:212112
Congenital Analbuminemia
Hypercholesterolemia, Hyperlipidemia, Lipodystrophy ORPHA:86816
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Elevated circulating creatine kinase concentration, Hype... OMIM:618120
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Stiff Skin Syndrome
Lipoatrophy, Type II diabetes mellitus ORPHA:2833
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Pallor, Dysphagia, Lethargy OMIM:613561
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Type II diabetes mell... ORPHA:1133
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Shagreen patch ORPHA:2617
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Decr... ORPHA:98855
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Flexion contracture, Lipodystrophy ORPHA:75496
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera... OMIM:201475
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Glycosuria, Agitation, Pancreatic ... ORPHA:263455
Donohue Syndrome
Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyper... OMIM:246200
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Alg3-Cdg
Arthrogryposis multiplex congenita, Lipodystrophy, Decreased liver function ORPHA:79321
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Insulin resistance, Absence of subcutaneous fat, Ins... OMIM:269880
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Hyperammonemia, Hepatic failure OMIM:618567
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Lethargy OMIM:246900
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Lipodystrophy, Hepatocellular carcinoma OMIM:616200
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy ORPHA:261304
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... OMIM:608594
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... OMIM:614817
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... OMIM:613327
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Decr... ORPHA:98863
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Decr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Decr... ORPHA:98853
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... OMIM:238970
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy OMIM:618048
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Glucose intolerance ORPHA:75563
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... ORPHA:2088
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus, Pallor, Anorexia ORPHA:49827
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... OMIM:278000
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
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
Lethargy, Hepatomegaly OMIM:618224
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... OMIM:620300
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy, Redundant neck skin, Neonatal death OMIM:610498
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Leth... ORPHA:2089
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Riboflavin Deficiency
Lethargy, Hypoglycemia OMIM:615026
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of end... ORPHA:79230
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... OMIM:207800
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperglycinemia, Pancreatitis OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... ORPHA:99901
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Becker Nevus Syndrome
Lipoatrophy ORPHA:64755
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia OMIM:246450
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia ORPHA:927
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:79312
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:614739
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Umbilical hernia, Lipoatrophy, Shagreen patch ORPHA:2963
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... ORPHA:159
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperammonemia OMIM:237310
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia OMIM:617885
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:614702
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... ORPHA:293964
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Pallor, Anorexia OMIM:500007
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Pancreatitis OMIM:251000
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypoglycemia OMIM:610006
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lipodystrophy OMIM:617099
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy OMIM:270450
Lethal Infantile Mitochondrial Myopathy
Lethargy, Fatal liver failure in infancy ORPHA:254857
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia OMIM:615453
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia OMIM:210200
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618416
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis OMIM:201450
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Hepatos... ORPHA:39812
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver ORPHA:205
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Camptodactyly, Neonatal death OMIM:610015
Evans Syndrome
Lethargy, Jaundice, Pallor, Petechiae ORPHA:1959
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Hyperlipidemia, Generalized lipodystrophy ORPHA:90154
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
H Syndrome
Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Hepatosplenomegaly, Hernia, Camptodactyly ORPHA:168569
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Lipodystrophy OMIM:219200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Flexion contracture, Camptodactyly of finger, Hyperammonemia ORPHA:1194
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Developmental And Epileptic Encephalopathy 82
Hyperammonemia OMIM:618721
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Citrullinemia Type I
Elevated plasma citrulline, Hepatic failure, Hyperammonemia ORPHA:247525
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia OMIM:610678
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Lipodystrophy ORPHA:300751
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic failure ORPHA:156
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Lipoatrophy ORPHA:349
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Peripheral Cone Dystrophy
Pallor OMIM:609021
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor, Anorexia, Hepatosplenomegaly OMIM:611590
Werner Syndrome
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Chondrocalcinosis ORPHA:902
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Hemochromatosis, Type 2A
Splenomegaly, Lethargy, Cirrhosis, Hepatomegaly OMIM:602390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Isolated Atp Synthase Deficiency
Hyperalaninemia, Hyperammonemia, Hepatomegaly ORPHA:254913
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia OMIM:618253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy OMIM:618922
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling, Elevated circulating alanine aminotransferase concentration, Hypoglycem... OMIM:617950
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... OMIM:615751
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia, Depression ORPHA:178029
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Hyperleucinemia OMIM:210210
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... OMIM:215700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Essential Fructosuria
Hyperglycemia ORPHA:2056
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Depression, Attention defici... ORPHA:79239
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Umbilic... OMIM:219150
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Ane Syndrome
Multiple joint contractures, Lipoatrophy ORPHA:157954
Hsd10 Disease, Infantile Type
Hypoglycemia, Hyperammonemia ORPHA:391428
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... ORPHA:470
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication OMIM:237300
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic... ORPHA:20
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia ORPHA:134
Poems Syndrome
Diabetes mellitus, Lipodystrophy ORPHA:2905
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia OMIM:618958
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Abnormal subcutaneous fat tissue distribution ORPHA:357074
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Optic Atrophy 1
Pallor OMIM:165500
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Hsd10 Mitochondrial Disease
Restlessness, Agitation, Hypoglycemia, Aggressive behavior OMIM:300438
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hyperammonemia ORPHA:23
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy, Dysphagia OMIM:618226
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Combined Oxidative Phosphorylation Deficiency 5
Hyperammonemia OMIM:611719
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperalaninemia, Hyperammonemia OMIM:619051
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Maturity-onset diabetes of the y... OMIM:616222
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Immunodeficiency 42
Splenomegaly, Hepatomegaly OMIM:616622
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia OMIM:613661
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Breath-Holding Spells
Pallor OMIM:607578
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Congenital Enterovirus Infection
Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure ORPHA:292
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... OMIM:618805
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Hypoglycemia, Hepatomegaly OMIM:229700
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Hepatomegaly OMIM:603902
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Lethargy, Hepatomegaly OMIM:619064
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis ORPHA:848
Maple Syrup Urine Disease
Lethargy, Hypoglycemia, Pancreatitis OMIM:248600
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Generalized lipody... OMIM:616914
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... ORPHA:3008
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... OMIM:311250
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Depression, Bradykinesia, Agitation, Pallor, Dysphagia ORPHA:13
Mehmo Syndrome
Hypoglycemia, Aggressive behavior OMIM:300148
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly OMIM:607685
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... OMIM:616878
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Hyperglycinemia, Hyperammonemia OMIM:251110
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Beta-Thalassemia Intermedia
Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, He... ORPHA:231222
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Anorexia, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis... ORPHA:824
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Keppen-Lubinsky Syndrome
Congenital generalized lipodystrophy, Flexion contracture, Lipodystrophy, Loss of facial adipose ... ORPHA:435628
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... OMIM:619418
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Hepatomegaly OMIM:133180
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Camptodactyly o... OMIM:256040
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... ORPHA:348
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Ascites OMIM:619433
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b... OMIM:274150
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, Neonatal death, Elev... OMIM:231680
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... ORPHA:98907
De Barsy Syndrome
Umbilical hernia, Inguinal hernia, Lipodystrophy ORPHA:2962
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Portal hypertension, Splenomegaly, Apathy, C... ORPHA:465508
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Lethargy OMIM:215600
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Orthostatic Hypotension 1
Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen OMIM:223360
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Rett Syndrome
Increased serum pyruvate, Cholecystitis, Hyperammonemia ORPHA:778
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy ORPHA:276280
Holocarboxylase Synthetase Deficiency
Hyperammonemia ORPHA:79242
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Hyperglycinemia, Hyperammonemia OMIM:251100
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Pallor ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Perioral erythema, Lethargy, Dry skin OMIM:201100
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Hyperalaninemia, Hyperammonemia OMIM:615471
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Hyperammonemia OMIM:253260
Idiopathic Congenital Hypothyroidism
Lethargy, Prolonged neonatal jaundice ORPHA:95717
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:66628
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Dravet Syndrome
Bradykinesia, Obsessive-compulsive trait, Pallor, Impulsivity ORPHA:33069
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Encephalocraniocutaneous Lipomatosis
Multiple lipomas, Lipodystrophy ORPHA:2396
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... OMIM:603553
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Stillbirth, Decreased liver function, Neonatal death, Lethargy, Hepatic steatosis OMIM:614922
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:179494
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis OMIM:266200
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Cholestasis OMIM:201400
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
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
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Hyperammonemia, Umbilical hernia, Neonatal death, Hyperalaninemia OMIM:614052
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... ORPHA:98908
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Scarring, Postnatal growth r... ORPHA:90321
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... OMIM:222700
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Childhood Absence Epilepsy
Punding, Pallor, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Alg9-Cdg
Omphalocele, Hepatomegaly, Lipodystrophy, Periportal fibrosis, Hepatic cysts ORPHA:79328
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Hepatomegaly OMIM:618852
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Keppen-Lubinsky Syndrome
Flexion contracture, Absence of subcutaneous fat, Lack of facial subcutaneous fat, Generalized li... OMIM:614098
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Flexion contracture, Generaliz... OMIM:619127
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper... OMIM:620358
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Typhoid
Splenomegaly, Lethargy, Hepatomegaly ORPHA:99745
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... ORPHA:189427
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hepatocellular adenoma, Hypogly... ORPHA:79259
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Homocystinuria, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Hepatic ... OMIM:236200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Prolonged neonatal jaundice, Dry skin, Depression ORPHA:99832
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevat... OMIM:245400
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Erythema, Macronodula... OMIM:557000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Hyperlysinemia
Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Hyperlysinemia ORPHA:2203
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Barber-Say Syndrome
Lipodystrophy OMIM:209885
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Jaundice, Hyperammonemia, Elevated circu... ORPHA:79282
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Temple Syndrome
Recurrent hypoglycemia, Polyphagia, Type II diabetes mellitus ORPHA:254516
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Dengue Fever
Lethargy, Petechiae, Hepatomegaly ORPHA:99828
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Flexion contracture, Camptodactyly ORPHA:86309
Premature Aging Syndrome, Penttinen Type
Keloids, Joint contracture, Flexion contracture of finger, Lipoatrophy OMIM:601812
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... OMIM:614921
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia OMIM:619313
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Lethargy, Petechiae, Hepatomegaly OMIM:617397
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Ascites ORPHA:100025
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Meningococcal Meningitis
Lethargy, Petechiae, Anorexia, Purpura ORPHA:33475
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly ORPHA:66661
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Fastin... ORPHA:79474
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia ORPHA:48431
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Anorexia, Hepatitis, Type I diabetes mellitus, Lethargy, Dry skin ORPHA:199299
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Bachmann-Bupp Syndrome
Dry skin, Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619075
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy OMIM:614008
Necrotizing Enterocolitis
Lethargy, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Cholestasis, Lethargy, Chronic hepatic failure, Hypoketotic hypoglycemia ORPHA:746
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hypoglycemia, Jaundice, Bic... OMIM:229600
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Hepatomegaly OMIM:614299
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hyperald... ORPHA:508
Susac Syndrome
Lethargy, Apathy ORPHA:838
Dominant Beta-Thalassemia
Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosp... ORPHA:231226
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... ORPHA:90041
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis ORPHA:254346
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco... OMIM:616026
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypoglycemic seizure... ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypoglycemia, Decreased liver function OMIM:618835
Plummer-Vinson Syndrome
Pallor, Dysphagia, Geophagia ORPHA:54028
Holocarboxylase Synthetase Deficiency
Hyperammonemia OMIM:253270
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Hypoglycemia, Decreased liver function OMIM:618839
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:619802
Tay-Sachs Disease
Apathy, Pallor OMIM:272800
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor ORPHA:90037
Retinitis Pigmentosa 51
Pallor OMIM:613464
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... OMIM:232200
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Hepatomegaly, Pallor ORPHA:75564
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Di... ORPHA:79644
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating creatine kinase concentration ORPHA:52430
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Hepat... ORPHA:51
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Staphylococcal Necrotizing Pneumonia
Lethargy, Diabetes mellitus, Addictive alcohol use ORPHA:36238
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Lethargy, Chronic hepatic failure ORPHA:469
Familial Thyroid Dyshormonogenesis
Lethargy, Prolonged neonatal jaundice ORPHA:95716
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Microvesicular hepatic steatosis, Elevated circulating alanine amin... OMIM:610198
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy, Hepatomegaly OMIM:604377
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Agitation, Neonatal hypoglycemia OMIM:619046
Fish-Eye Disease
Splenomegaly, Hepatomegaly ORPHA:79292
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemi... ORPHA:90062
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Postnatal growth retardation, Achilles tend... OMIM:616263
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Beta-Thalassemia Major
Hepatomegaly, Diabetes mellitus, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenom... ORPHA:231214
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Neonatal Marfan Syndrome
Flexion contracture, Lipoatrophy ORPHA:284979
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:99931
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Hypoglycemia, Aggressive behavior OMIM:617710
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice, Pallor ORPHA:90033
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Pallor ORPHA:3386
Ebola Hemorrhagic Fever
Lethargy, Acute pancreatitis, Hepatitis, Dysphagia ORPHA:319218
Methylcobalamin Deficiency Type Cble
Lethargy, Abnormality of the liver ORPHA:2169
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... OMIM:618329
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hyperactivity, Hypoglycemia, Attention deficit hyperactivity disorder ORPHA:73272
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... ORPHA:2126
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Flexi... OMIM:212065
Isovaleric Acidemia
Lethargy OMIM:243500
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... ORPHA:77293
Hereditary Spherocytosis
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hyperalaninemia, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Aromatase Deficiency
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Type II diabetes mellitus ORPHA:91
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly OMIM:601979
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Isolated Complex I Deficiency
Lethargy, Diabetes mellitus, Hypoglycemia, Hepatomegaly ORPHA:2609
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic st... OMIM:220111
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Bipolar affective disorder, Diabetes mellitus, Depression, Bradyki... ORPHA:254892
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis OMIM:307030
Wrinkly Skin Syndrome
Umbilical hernia, Inguinal hernia, Lipodystrophy ORPHA:2834
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Congenital Heart Block
Pallor ORPHA:60041
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Lethargy, Dry ... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased L... ORPHA:14
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia OMIM:606407
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Hypoglycemia OMIM:607143
Cole Disease
Hyperglycemia OMIM:615522
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy OMIM:605711
Rheumatic Fever
Erythema, Pallor, Anorexia ORPHA:3099
Sim1-Related Prader-Willi-Like Syndrome
Type II diabetes mellitus, Skin-picking, Abnormal temper tantrums, Lethargy, Polyphagia ORPHA:398079
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Laron Syndrome
Hypoglycemia ORPHA:633
Ogden Syndrome
Lethargy, Cutis laxa ORPHA:276432
Developmental And Epileptic Encephalopathy 50
Hyperammonemia OMIM:616457
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Postnatal gr... ORPHA:699
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Biotinidase Deficiency
Hyperammonemia ORPHA:79241
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Type II diabetes mellitus, Abnormal temper tantrums, Compulsive behaviors, Skin-pick... ORPHA:398069
Cholera
Palmoplantar cutis laxa, Lethargy, Hypoglycemia ORPHA:173
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:536532
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency OMIM:612714
Scrub Typhus
Splenomegaly, Lethargy ORPHA:83317
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice OMIM:618892
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In... OMIM:619377
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly OMIM:618107
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Waldenström Macroglobulinemia
Hepatomegaly, Anorexia, Splenomegaly, Pallor, Purpura ORPHA:33226
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia ORPHA:96168
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Dysphagia OMIM:607483
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura ORPHA:90051
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Erythema, Aggressive behavior OMIM:618321
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... OMIM:235200
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor ORPHA:98870
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Lack of fac... ORPHA:2959
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... ORPHA:66634
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Hereditary Folate Malabsorption
Pallor, Anorexia ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Spleno... OMIM:608779
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly OMIM:620296
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Histiocytoid Cardiomyopathy
Lethargy, Hypoglycemia, Pallor, Hepatomegaly ORPHA:137675
Wolman Disease
Splenomegaly, Hepatomegaly, Hepatic failure, Ascites ORPHA:75233
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Retinitis Pigmentosa 75
Pallor OMIM:617023
Chédiak-Higashi Syndrome
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:167
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Decreased liver function, Glycosuria, Diffuse hepatic steatosis ORPHA:436271
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Transcobalamin Ii Deficiency
Lethargy, Hepatomegaly OMIM:275350
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Attention deficit hyperactivity disorder ORPHA:397590
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Myopathy, Mitochondrial, And Ataxia
Pallor, Depression OMIM:617675
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Reduced number of intrahepatic bile ducts ORPHA:79284
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Genetic Transient Congenital Hypothyroidism
Lethargy, Prolonged neonatal jaundice ORPHA:226316
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Elevated circulating aspartate aminotransferase co... OMIM:614866
D-Glyceric Aciduria
Tongue thrusting, Hypoglycemia OMIM:220120
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Shigellosis
Hypoglycemia, Anorexia, Peritonitis, Cholestasis, Splenic abscess, Hepatic failure, Purpura ORPHA:810
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Flexion contracture, Abse... OMIM:264090
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
Renal Hypoplasia, Bilateral
Lethargy, Glycosuria ORPHA:97362
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Hepatomegaly OMIM:277380
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Portal hypertension, Cholestasis, H... OMIM:613658
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Hypoglycemia, Abnormal temper tantrums, Aggressive behavior ORPHA:457279
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis OMIM:613280
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Aregenerative Anemia
Pallor, Depression ORPHA:101096
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly of finger, ... ORPHA:3455
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy, Cholestasis, Hepatomegaly OMIM:620233
Timothy Syndrome
Hypoglycemia OMIM:601005
Pituitary Apoplexy
Hypoglycemia, Pallor ORPHA:95613
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosis OMIM:617303
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Flexion contra... ORPHA:17
Dend Syndrome
Hyperglycemia ORPHA:79134
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Tongue thrusting OMIM:608643
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Hepatic failure, Hypoglycemia OMIM:619355
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Alternating Hemiplegia Of Childhood
Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Pallor, Dysphagia ORPHA:2131
Sheehan Syndrome
Dry skin, Hypoglycemia, Pallor ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Decreased liver function, Increased intramyocellular lipid droplets,... OMIM:220110
Bloom Syndrome
Postnatal growth retardation, Type II diabetes mellitus, Hepatic steatosis, Elevated hemoglobin A1c OMIM:210900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Hypoglycemia, Neonatal hypoglycemia OMIM:619055
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypoglycemia, Splenomegaly, Lethargy, Hepatic failure OMIM:252010
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Prolonged neonatal jaundice ORPHA:90673
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Jaundice, Glycosuria, Unconjugated hyperbilirubinemia, Increased blood urea... ORPHA:447
Shashi-Pena Syndrome
Hypoglycemia OMIM:617190
Mirage Syndrome
Hypoplastic spleen, Hypoglycemia, Petechiae OMIM:617053
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Splenomegaly, P... OMIM:276700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Neonatal hypoglycemia ORPHA:457485
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice OMIM:616689
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Sotos Syndrome
Aggressive behavior, Glucose intolerance, Attention deficit hyperactivity disorder, Prolonged neo... OMIM:117550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Cholelithiasi... OMIM:301066
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... OMIM:615356
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl... ORPHA:404454
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice OMIM:233600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Medulloblastoma
Elevated hepatic transaminase, Lethargy ORPHA:616
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Hepatosplenomegaly, Chronic hepatitis, ... ORPHA:3260
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Hypoketotic hypoglycemia OMIM:610768
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Pallor ORPHA:98849
Trichinellosis
Lethargy, Apathy, Dysphagia ORPHA:863
Panhypophysitis
Polydipsia, Pallor ORPHA:95513
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Acute Adrenal Insufficiency
Dry skin, Salt craving, Hypoglycemia, Anorexia ORPHA:95409
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Insulin resistance, Ab... ORPHA:79318
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Esophageal Atresia
Oral aversion, Pallor, Maternal diabetes, Dysphagia ORPHA:1199
Leigh Syndrome
Hepatic failure, Hypoglycemia, Dysphagia ORPHA:506
Complete Atrioventricular Septal Defect
Lethargy, Hepatomegaly ORPHA:1329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Neonatal hypoglycemia ORPHA:35173
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Cerebral Visual Impairment
Neonatal hypoglycemia, Attention deficit hyperactivity disorder ORPHA:447788
Encephalitis Lethargica
Lethargy ORPHA:83600
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Dysphagia, Aggressive behavior ORPHA:572798
Amoebiasis Due To Free-Living Amoebae
Lethargy, Skin ulcer, Restlessness ORPHA:68
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Prolonged neonatal jaundice ORPHA:226307
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyperglycemia, Hyperlipidemia ORPHA:293987
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Ketotic hypoglycemia, Anorexia ORPHA:361
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Addison Disease
Salt craving, Hypoglycemia, Anorexia, Type I diabetes mellitus, Dry skin ORPHA:85138
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Familial Hypoaldosteronism
Lethargy ORPHA:427
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Scorpion Envenomation
Hyperglycemia, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration,... ORPHA:466677
Adenohypophysitis
Pallor ORPHA:95512
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Flexion contracture, Hepatic steatosis OMIM:619321
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia ORPHA:565624
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy, Dysphagia ORPHA:306674
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Dysphagia ORPHA:25
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hypoglycemia ORPHA:90790
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia ORPHA:444077
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia OMIM:616007
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hepatitis, Hepatic stea... OMIM:615846
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... OMIM:300868
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Exercise-Induced Malignant Hyperthermia
Lethargy, Hepatic failure, Decreased liver function, Dry skin ORPHA:466650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia OMIM:618005
Prolactinoma
Pallor ORPHA:2965
Posterior Urethral Valve
Lethargy ORPHA:93110
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco... OMIM:618278
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Splenomegaly, Cholestatic liver disease, Hypoalbuminemia, Elevated circulating 7-de... OMIM:270400
Degcags Syndrome
Hepatomegaly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphol... OMIM:619488
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Jaundice, Neonatal hypoglycemia, Dysphagia OMIM:617248
Alg12-Cdg
Elevated hepatic transaminase, Recurrent hypoglycemia, Redundant skin ORPHA:79324
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Dry skin OMIM:218700
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Menkes Disease
Dry skin, Hypoglycemia, Prolonged neonatal jaundice ORPHA:565
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Infection-Related Hemolytic Uremic Syndrome
Pallor, Diabetes mellitus, Pancreatitis ORPHA:544482
Alobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93926
Lobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93924
Semilobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:220386
Multiple Endocrine Neoplasia, Type I
Insulinoma, Hypoglycemia, Pancreatic islet cell adenoma OMIM:131100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Oral aversion, Insulin resistance, Fasting hypoglycemia ORPHA:96182
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Ogden Syndrome
Inguinal hernia, Maternal diabetes, Postnatal growth retardation, Microvesicular hepatic steatosi... OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Postnatal growth retardation, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Postnatal growth retardation, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Postnatal growth retardation, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Postnatal growth retardation, Hyperinsulinemia, Biliary cirrhosis,... ORPHA:881
Deeah Syndrome
Hepatomegaly, Dysphagia, Self-mutilation, Neonatal hypoglycemia, Exocrine pancreatic insufficiency OMIM:619004
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Holoprosencephaly
Abnormality of the spleen, Diabetes mellitus, Hypoglycemia ORPHA:2162
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Diamond-Blackfan Anemia
Lethargy, Pallor ORPHA:124
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Pallor ORPHA:667
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor, Attention deficit hyperactivity disorder OMIM:227646
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Anorexia, Insulinoma, Depression, Lethargy ORPHA:652
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Glycine Encephalopathy
Lethargy ORPHA:407
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Redundant skin, Splenomegaly, Abnormal pancreas morphology, Hepatobla... ORPHA:116
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Jaundice, Hepatic steatosis, Hyperbilirubinemia OMIM:619475
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob... ORPHA:373
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dorsocervical fat pad, Portal ... ORPHA:64
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Portal hypertension, Flexi... OMIM:619503
Hydranencephaly
Lethargy ORPHA:2177
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Abnormality of the liver, Annular pancreas, H... ORPHA:1606
Eisenmenger Syndrome
Lethargy, Abnormality of the liver, Hepatomegaly ORPHA:97214
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Cholelithiasis, Splenomegaly, Hypocalcemia, Umbilical hernia, He... OMIM:188400
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Pineoblastoma
Lethargy ORPHA:251909
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Costello Syndrome
Redundant neck skin, Hypoglycemia OMIM:218040
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Neonatal hypoglycemia OMIM:130650
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia ORPHA:3464
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia ORPHA:457359
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
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, Neonatal hypoglycemia, Attention deficit hyperactivity disorder, Agg... 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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