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Gene: Pon3 MGI:106686

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Gene Summary

Name:
paraoxonase 3
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Pon3tm1b(KOMP)Wtsi HOM Early adult 2.19×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Forepaw

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Human diseases caused by Pon3 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 Pon3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
ORPHA:803

The table below shows human diseases predicted to be associated to Pon3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL... ORPHA:209902
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity, Premature coronary artery atherosclerosis OMIM:608320
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... OMIM:612526
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczema, Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... OMIM:618666
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho... ORPHA:75234
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells with lame... OMIM:607616
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... ORPHA:79506
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Edinburgh Malformation Syndrome
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia, Frontal hirsutism OMIM:129850
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... OMIM:300635
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Stroke, Hepatic steatosis OMIM:613877
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... OMIM:603552
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Gout, Premature coronary artery at... OMIM:610947
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Analbuminemia
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... OMIM:616000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Hepatic f... OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Adipose tissue lo... ORPHA:528
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Jaundice, Gout, Hyperuricemia, Increased circ... OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... OMIM:151660
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia, Decreased lecithin cho... OMIM:245900
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Cutaneous photosensitivity, Increased erythrocyte ... OMIM:300752
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... ORPHA:79083
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level OMIM:615238
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... ORPHA:890
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Cryptorchidism, Flexion contracture,... OMIM:616222
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Autosomal Erythropoietic Protoporphyria
Eczema, Abnormal circulating porphyrin concentration, Erythema, Decreased liver function, Cirrhos... ORPHA:79278
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Elevated circulating long chain fatty ac... OMIM:614886
Galactosemia Iv
Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperbiliverdinemia
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis OMIM:614156
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... OMIM:615381
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyce... ORPHA:412
Galactosemia Ii
Hypergalactosemia, Prolonged neonatal jaundice OMIM:230200
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:79333
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... ORPHA:263501
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F... OMIM:230350
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,... ORPHA:280365
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97278
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... OMIM:615980
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries, Increased intraabdominal f... ORPHA:79085
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopit... OMIM:619013
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... OMIM:611881
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... ORPHA:79237
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97261
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:237800
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus... OMIM:617591
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia, Obesity ORPHA:254531
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia, Bronchiectasis, Recurrent sinusitis OMIM:620282
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Premature graying... ORPHA:79477
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of... ORPHA:171
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In... ORPHA:439167
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Vascular dilatation, Increas... ORPHA:2924
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop... ORPHA:39812
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Curly hair, Thoracic hypertrichosis, Splenomegaly, Patent ductus arteriosus, Synoph... OMIM:618268
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Inguinal hernia OMIM:245550
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Perianal abscess, Jaundice,... ORPHA:444490
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile d... ORPHA:363618
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Elevated circulating creatinine con... ORPHA:232
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... ORPHA:369
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen... ORPHA:79320
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic ... ORPHA:30391
Mirizzi Syndrome
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... ORPHA:521219
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ... OMIM:618775
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Jaundice, Reduced level of N-acetylglucosaminyltransferase II OMIM:224100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Obesity ORPHA:329249
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Prematurely aged appearance, Truncal obesity ORPHA:633
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Portal vein thrombosis, Increased circulating ferritin concentration... ORPHA:3202
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, Ch... OMIM:194380
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Skin rash, Incre... OMIM:603553
Lambert Syndrome
Inguinal hernia, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Overweight, Splenomegaly, Peripheral arterial stenosis, Obesity, ... ORPHA:90041
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Spherocytosis, Type 1
Splenomegaly, Cholelithiasis, Jaundice, Hyperbilirubinemia OMIM:182900
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Elevated circulating ... OMIM:277700
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism ORPHA:77296
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Alpha-Thalassemia
Hypersplenism, Cholelithiasis, Jaundice, Splenomegaly ORPHA:846
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97283
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Increased tota... OMIM:174050
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Enterocolitis,... ORPHA:95427
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Generalized ... ORPHA:79086
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Smith-Magenis Syndrome
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight OMIM:182290
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... ORPHA:26793
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Splenomegaly, Jaundice, Steatorrhea, Failure to thriv... OMIM:612714
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Pituitary hypothyroidism, Abnormal circulating thyroglobulin level, Umbilical... ORPHA:90674
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Obesity OMIM:617885
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulatin... ORPHA:95715
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Recurrent otitis media, Hype... ORPHA:96184
Hereditary Spherocytosis
Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Hyperbilirubinemia, Cholelit... ORPHA:822
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic steatosis, Hepatic fib... ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... ORPHA:98907
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... ORPHA:288
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... OMIM:601847
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abnormality of the t... ORPHA:400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Hyperchole... ORPHA:567548
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... OMIM:251880
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... OMIM:616299
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:95717
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p... ORPHA:47
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... OMIM:613470
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j... ORPHA:199296
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper... ORPHA:1667
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Recurrent skin infections, Eczema, Splenomegaly, Increased circulating ferr... OMIM:619802
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Skin rash, Abnormality of the pancreas,... ORPHA:69665
Harderoporphyria
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun... OMIM:618892
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Stroke, Hepatitis ORPHA:444463
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Conjugated hyperbilirubinemia, Splenomegaly, Fair hair OMIM:269920
Sitosterolemia 1
Hyperapobetalipoproteinemia, Hypercholesterolemia, Carotid artery stenosis, Elevated circulating ... OMIM:210250
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice OMIM:262400
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating cholesterol concentration, Xanthelasma OMIM:213700
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:617049
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice OMIM:206400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Increased circulating ferritin concentration, Elevated tr... ORPHA:766
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Asplenia, Iridocyclit... OMIM:240300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:604091
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Flexion contracture, Patchy alopecia, Decreased body weight, Cholelithiasis, Fail... OMIM:300534
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, U... OMIM:614602
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... OMIM:263700
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal... ORPHA:95716
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Cholestasis OMIM:201400
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Necrolytic migratory erythema, Stomatitis, Cholelithiasis, Abnormal bil... ORPHA:438274
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Immunodeficiency 47
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Failure to thrive, Decreased circu... OMIM:300972
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... ORPHA:186
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:608594
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia... OMIM:617156
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... OMIM:238970
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Thick hair, Highly arched eyebrow ORPHA:401923
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Jaundice, W... ORPHA:381
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula... ORPHA:293964
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly ORPHA:3166
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Transient ischemic attack, Minimal change glomerulonephritis, Hyperlip... ORPHA:1830
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Cutaneous photosensitivity OMIM:121300
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Obesity,... ORPHA:98908
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia, Minimal change glomerulonephritis OMIM:616730
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... ORPHA:14
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... ORPHA:33110
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... OMIM:619685
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Peripheral arteriovenous fistula, Transient ischemic attack, Telangi... ORPHA:774
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Psoriasiform dermatit... ORPHA:168569
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice OMIM:618512
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased testi... ORPHA:66628
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Flexion contracture, Hypoproteinemia OMIM:608093
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate... OMIM:617253
Thyroid Hemiagenesis
Umbilical hernia, Jaundice ORPHA:95719
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased testi... ORPHA:179494
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Erythema nodosum, Splenomegaly, Jaundice... OMIM:613471
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Failure to thrive in infancy ORPHA:858
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Jaundice ORPHA:2349
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Triosephosphate Isomerase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th... OMIM:615512
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Synophrys, Obesity, Chronic otitis media, Hyp... ORPHA:819
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Coronary artery atherosclerosis... ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi... OMIM:619313
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hepatosplenomegaly, N... ORPHA:31150
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Failure to thrive in infancy, Elevated carcinoembryon... ORPHA:264675
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... ORPHA:36234
Hydroxykynureninuria
Jaundice OMIM:236800
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Celluli... ORPHA:549
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Atherosclerosis ORPHA:79292
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Synophrys, Obesity, Hepatosplenomegaly, Umbilical hernia, Cholecystitis, Recurrent ... OMIM:301066
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethas... ORPHA:189427
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... ORPHA:91547
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Acne, Increased body weight, Increased circ... OMIM:615830
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti... OMIM:606812
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Reni Syndrome
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair ORPHA:79476
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive ORPHA:2089
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis, Sparse lateral eyebrow ORPHA:363523
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A... OMIM:256040
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Sickle Cell Disease
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Stroke, Cholelithiasis OMIM:603903
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Joint contracture of the... OMIM:214110
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:158048
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... ORPHA:97282
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Recurrent pneumonia, Left superior vena cava ... ORPHA:464738
Zollinger-Ellison Syndrome
Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cell ade... ORPHA:913
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal subcutaneous fat tissue distr... OMIM:212065
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran... OMIM:257200
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:618463
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... ORPHA:199299
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h... OMIM:606721
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Dilation of Virchow-Robin spaces, Sparse eyelashes, Large for ... OMIM:619075
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Hepatocellul... ORPHA:79259
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Xanthelasma, ... ORPHA:425
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Chronic otitis media, Hy... ORPHA:567
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia OMIM:618810
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Pancreatitis OMIM:619471
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Elevated circulating growth hor... ORPHA:97280
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia OMIM:616483
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Werner Syndrome
Sparse scalp hair, Lipoatrophy, Lipodystrophy, Abnormal cerebral vascular morphology, Prematurely... ORPHA:902
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... ORPHA:542323
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Eczema, Minimal change glomerulonephritis OMIM:618348
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Alopecia, Carotid a... ORPHA:536532
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Ischemic stroke, Abnormal cerebral artery morphology, Hypercholesterolemia, ... ORPHA:90065
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Peripher... ORPHA:391665
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Spl... OMIM:224120
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, De... OMIM:251290
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Digeorge Syndrome
Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Femoral hernia... OMIM:188400
Xp21 Deletion Syndrome
Recurrent otitis media, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu... OMIM:619573
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Abnormality of the pa... OMIM:222470
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... OMIM:615710
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Elevated circulating growth hormone concentratio... ORPHA:562
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypopigmentation of hair, Hypertriglyceridemia, Recu... ORPHA:167
Microtriplication 11Q24.1
Hyperlipidemia, Synophrys, Obesity, Long eyelashes, Thick eyebrow ORPHA:289522
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Nail dystrophy OMIM:610644
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... OMIM:610199
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ... ORPHA:565612
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Babesiosis
Splenomegaly, Hepatomegaly, Jaundice, Hepatic failure ORPHA:108
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Spherocytosis, Type 4
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:612653
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as... OMIM:614866
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Hyp... ORPHA:90790
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia OMIM:616689
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Abnormality of the pul... ORPHA:290
Rh Deficiency Syndrome
Jaundice, Hepatosplenomegaly, Hypoxemia, Hyperbilirubinemia, Increased circulating lactate dehydr... ORPHA:71275
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Prolonged neon... ORPHA:99832
Allan-Herndon-Dudley Syndrome
Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Flexion contracture, Pro... ORPHA:59
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Hypercholesterolemia, Decreased response to growth hormo... ORPHA:273
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Umbil... ORPHA:90673
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:608779
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly ORPHA:33574
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gl... OMIM:619534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Familial Atrial Myxoma
Jaundice, Cholestasis, Dilatation of the cerebral artery, Bacterial endocarditis, Vascular dilata... ORPHA:615
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Intraalveolar phospholipid accumulation, We... ORPHA:747
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice OMIM:185000
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver, Infectious encephalitis ORPHA:205
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Hyperbilirubinemia, Unconjugated hyp... OMIM:613673
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjun... OMIM:269200
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen... ORPHA:90051
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... OMIM:607330
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... OMIM:215600
Spherocytosis, Type 2
Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:616649
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Premature ... ORPHA:79474
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79239
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi... ORPHA:79324
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g... OMIM:300908
Bohring-Opitz Syndrome
Synophrys, Bilateral wrist flexion contracture, Congenital contracture, Severe failure to thrive,... ORPHA:97297
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Proge... OMIM:619127
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni... ORPHA:169160
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529799
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Ente... OMIM:308230
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Neuhauser Syndrome
Hypercholesterolemia, Low anterior hairline OMIM:249310
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Angioedema... ORPHA:139402
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly... OMIM:170100
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, Prolonged neonatal jaundice ORPHA:423479
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Small for gestational age, Slender build, Portal ... OMIM:613658
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... ORPHA:98870
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial n... ORPHA:57777
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Precocious at... ORPHA:909
D-Glyceric Aciduria
Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi... ORPHA:941
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Umbilical hernia, Thyroid... ORPHA:226316
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Reduced C-peptide level, Decreased circulating lip... ORPHA:556955
Megaloblastic Anemia, Folate-Responsive
Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent... OMIM:601775
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... ORPHA:228426
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Atherosclerosis ORPHA:2724
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Cutis marmorata, Splenomegaly, Vasculitis, Arthritis, Abnormality ... ORPHA:91138
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... OMIM:613385
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Abnormal circulating lipid concentration ORPHA:3191
Dominant Beta-Thalassemia
Hypoparathyroidism, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Chronic ... ORPHA:231226
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero... ORPHA:415
Gm1-Gangliosidosis, Type Iii
Decreased beta-galactosidase activity, Foam cells OMIM:230650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Eczema, S... ORPHA:83617
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Intracranial hemorrhag... ORPHA:1163
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Spar... OMIM:613610
Peroxisome Biogenesis Disorder 6B
Elevated circulating phytanic acid concentration, Decreased liver function, Prolonged neonatal ja... OMIM:614871
Immunodeficiency 56
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta... OMIM:615207
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Williams Syndrome
Elevated circulating creatine kinase concentration, Abnormal cerebral vascular morphology, Chroni... ORPHA:904
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Low plasma citrulline, Hyperglutaminemia, Hyperammonemia, Hyperprolinemia, Hypoornithin... OMIM:615751
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hyperlipidemia, Synophrys, Obesity, Arthrogryposis multiplex congenita, Hepatic s... ORPHA:254346
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Abnormality of connective tissue, ... ORPHA:494424
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum... OMIM:309000
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Cerebral hemorrhage ORPHA:31825
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... ORPHA:276556
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... OMIM:308240
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... OMIM:231680
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Low alkaline p... ORPHA:369837
Flynn-Aird Syndrome
Alopecia, Cachexia, Atherosclerosis ORPHA:2047
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... ORPHA:676
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Diffuse pan... ORPHA:276575
Fucosidosis
Hepatomegaly, Failure to thrive, Lipoatrophy, Abnormality of the gallbladder, Acrocyanosis, Vascu... ORPHA:349
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Poor wound healing, Splenomegaly, Abnormality of the spleen, Calcification of the aorta... ORPHA:2072
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice OMIM:615631
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Low cholest... OMIM:257220
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Cerebral hemorrhage, Abnormal vascular morphology, Intracranial hemorrhage, Abno... ORPHA:464321
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Jaundice, Elevated circulating creatinine concentration, Prolonged neo... OMIM:274150
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Metachromatic Leukodystrophy
Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis OMIM:250100
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor... OMIM:307030
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Splenomegaly, Vasculitis, Erythema, Prol... OMIM:225750
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Flu... ORPHA:525731
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma, Failure to thrive OMIM:304790
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Prolonged neonatal jaundice OMIM:618828
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Large for gestational age, Decreased circulating free fa... ORPHA:324575
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... ORPHA:333
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... OMIM:229600
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Acne, Abnormal cerebral vascular morphology, Skin rash, Arterial sten... ORPHA:758
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair mor... ORPHA:90154
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Increased circu... OMIM:615846
Mucopolysaccharidosis Type 7
Inguinal hernia, Splenomegaly, Hepatitis, Arteriovenous malformation, Umbilical hernia ORPHA:584
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis si... ORPHA:779
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia, Elevated gamma... OMIM:608885
Niemann-Pick Disease, Type C2
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Low cholesterol esterification rate, Spleno... OMIM:607625
Developmental And Epileptic Encephalopathy 75
Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Failure to thrive, H... ORPHA:3008
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration OMIM:613839
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Lichen Planopilaris
Alopecia, Hepatitis ORPHA:525
Distal Duplication 5Q
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder, Hernia ORPHA:96097
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... ORPHA:20
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaun... ORPHA:231214
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Jaundice, Prolonged n... OMIM:613038
Evans Syndrome
Jaundice, Bruising susceptibility, Petechiae ORPHA:1959
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Increased body weight, Overgrowth, Otit... OMIM:117550
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Intracranial hemorrhage, Hypocalcem... ORPHA:163979
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Recurrent bacterial skin infections, Skin rash, Pneumonia, Jaundice, Recurrent cuta... ORPHA:276
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J... OMIM:208500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Increased C-peptid... ORPHA:276580
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Cryptorchidism, Synophrys, Contractures of the large joints, Aplasia/Hypoplasia ... ORPHA:96092
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Hemolytic Anemia, Congenital, X-Linked
Jaundice OMIM:301015
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin ORPHA:90037
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczema... ORPHA:83471
Hutchinson-Gilford Progeria Syndrome
Alopecia, Absence of subcutaneous fat, Precocious atherosclerosis, Premature coronary artery athe... OMIM:176670
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Ogden Syndrome
Inguinal hernia, Prematurely aged appearance, Eczema, Facial wrinkling, Sparse eyebrow, Microvesi... OMIM:300855
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Jaundice, Subdural hemorrhage, Hyperammonemia, Hyperho... ORPHA:79282
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyp... ORPHA:91
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Prominent superficial veins, Alopecia, Lipoatrophy, Sparse eyelashes, Progeroi... OMIM:614008
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Abnormal cerebral vascular morphology, S... ORPHA:2067
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Prolonge... OMIM:214100
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Coronary artery atherosclerosis ORPHA:439232
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Vascular granular osmiophilic material deposition, Arteriosclerosis, Stroke-like episode, Stroke,... ORPHA:199354
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Abnormal mesentery m... ORPHA:284
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, C... ORPHA:90363
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga... ORPHA:100086
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Dry hair, Cache... ORPHA:191
Familial Aortic Dissection
Cutis marmorata, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellul... ORPHA:229
Zellweger Syndrome
Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Hepatic failure ORPHA:912
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Failure to thrive, At... ORPHA:93598
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hyperuricemi... ORPHA:469
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J... ORPHA:79124
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Congenital diaphragmatic hernia, Patent ductus arte... ORPHA:2255
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Erythema, Cheilitis, Hepatitis ORPHA:1334
Kawasaki Disease
Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Jaundice, Vasculitis, Hepatitis,... ORPHA:2331
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Recur... OMIM:619381
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia, He... OMIM:232200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Castleman Disease
Jaundice, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:160
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Vasculitis, Weight loss,... ORPHA:91139
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... ORPHA:183675
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, Hepatomegaly, Hiatus hernia, Abnorma... OMIM:619488
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, G... OMIM:232220
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, ... ORPHA:91387
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Venous insufficiency, Jaund... ORPHA:198
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Prematurely aged appeara... OMIM:264090
Obesity And Hypopigmentation
Red hair, Overgrowth, Hepatic steatosis, Obesity OMIM:620195
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Broad eyebrow, Osteomyelitis, Overweight, Jaundice, Synophrys, Obe... OMIM:619475
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Myasthenia Gravis
Myositis, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis ORPHA:589
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Hyperlipidemia, Bruising susceptibility, Hyperuricemia ORPHA:35909
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly ORPHA:168577
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Inguinal hernia, Hyperparathyroidism, Hypoammonemia, Abnormal de... ORPHA:534
Yellow Fever
Acute pancreatitis, Skin rash, Elevated circulating aspartate aminotransferase concentration, Ele... ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... OMIM:618329
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Vasculitis, Hepatitis, ... ORPHA:3261
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Vasculitis, Hepatiti... ORPHA:1855
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Hepatitis, Ente... ORPHA:73263
Menkes Disease
Inguinal hernia, Hypopigmentation of hair, Osteomyelitis, Venous insufficiency, Vascular dilatati... ORPHA:565
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Hypoplasia of the thymus, Interface hepatiti... OMIM:243150
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Coarctation of aorta, Hypocholesterolemia, Sparse hair, Failure to thrive OMIM:244450
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Transient ischemic attack, C... ORPHA:3260
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Increased total bilirubin ORPHA:90036
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Nail d... ORPHA:436252
Classical-Like Ehlers-Danlos Syndrome Type 1
Bruising susceptibility, Stroke, Precocious atherosclerosis ORPHA:230839
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Gaucher Disease
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Relapsing Polychondritis
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa... ORPHA:728
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Scarring, Increased connective tissue, Abnormal circulating ... ORPHA:79277
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Cutis marmorat... ORPHA:51
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increased body weight, Ab... OMIM:615954
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt... OMIM:610768
Rett Syndrome
Increased serum pyruvate, Failure to thrive, Cholecystitis, Hyperammonemia ORPHA:778
Listeriosis
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Peritoniti... ORPHA:533
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia... ORPHA:512
Cushing Disease
Plethora, Sparse scalp hair, Purpura, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical inc... ORPHA:96253
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Cryptorchidism, Patent ductus arter... ORPHA:163956
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Prolonged neonatal jaundice OMIM:618868
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,... ORPHA:3455
Triploidy
Omphalocele, Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbl... ORPHA:3376
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia, Tetralogy of Fallot ORPHA:1335
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph... OMIM:619525
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Skin rash, Abnormality of body weight, Pneumonia, Abnormal circulatin... ORPHA:2298
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Orchitis, S... ORPHA:99827
Panbronchiolitis, Diffuse
Hypoxemia, Foam cells, Bronchiectasis OMIM:604809
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Interrupted aortic arch OMIM:300712
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Low posterior hairline, Aplasia/Hypoplasia of the ga... ORPHA:264450
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Pericarditis, Maculopapular exanthema, Elevated circulating creati... ORPHA:99826
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Inguinal hernia, Congenital diaphragmatic hernia, Patent d... OMIM:600001
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Arteritis, Recurrent aphtho... OMIM:233600
Anemia, Congenital Dyserythropoietic, Type Iiia
Increased circulating lactate dehydrogenase concentration, Jaundice, Reduced haptoglobin level OMIM:105600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Unco... OMIM:618278
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Eczema, Cryptorchidism, Otitis media, Hypocholesterolemia, Sp... OMIM:223370
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Anterior p... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Anterior pituitary dys... ORPHA:227990
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent otitis media, Cryptorchidism, Synophrys, Increased body weight ORPHA:589905
Lassa Fever
Jaundice, Conjunctivitis ORPHA:99824
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Medial calcification of large arteries, Eczema, Hepatitis, ... ORPHA:391487
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... OMIM:615418
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Coronary artery atherosc... OMIM:616833
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... ORPHA:509
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Conjuga... OMIM:620305
Acatalasemia
Arteriosclerosis, Severe periodontitis, Reduced catalase level ORPHA:926
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Letterer-Siwe Disease
Stomatitis, Jaundice, Seborrheic dermatitis, Hepatosplenomegaly OMIM:246400
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Ectopic thyroid, Hyperbilirubinemia, Umbilical hernia,... OMIM:218700
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Recurrent bacterial skin infections, Splenomegaly, Jaundi... OMIM:214500
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Jaundice ORPHA:90033
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar... OMIM:611788
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivit... ORPHA:36913
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis OMIM:610842
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Premature graying of ... ORPHA:280679
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat... ORPHA:90038
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Schimke Immunoosseous Dysplasia
Small for gestational age, Transient ischemic attack, Bilateral cryptorchidism, Fine hair, Arteri... OMIM:242900
African Trypanosomiasis
Hepatomegaly, Alopecia, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Hepatosplen... ORPHA:3385
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Eczema, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Severe photosensiti... OMIM:270400
Spherocytosis, Type 5
Splenomegaly, Jaundice OMIM:612690
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Thyroid Hypoplasia
Jaundice, Thyroid hypoplasia ORPHA:95720
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphra... ORPHA:2075
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, Xanthela... OMIM:232240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:235400
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hyperbilirubinemia OMIM:613986
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Transient ischemic attack, Alopeci... ORPHA:740
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoca... OMIM:243800
Peutz-Jeghers Syndrome
Melanonychia, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abn... ORPHA:2869
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Abnormal erythrocyte enzyme level, Jaundice, Stroke, Unconjugated hyperbili... ORPHA:447
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Hepatocellular adenoma, Abnormal ... ORPHA:552
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Hypoplastic nipples, Unco... OMIM:620186
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Cutis marmorata, Glomerulonephritis, Lymphocytic interstitial... ORPHA:289390
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Tetralogy of Fallot ORPHA:210122
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Elevated ci... OMIM:616026
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... OMIM:618500
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity OMIM:600955
Vacterl/Vater Association
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the pancreas, Cryptorchidism, Abnorm... ORPHA:887
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Minimal change glomerulonephritis ORPHA:567546
Elliptocytosis 1
Splenomegaly, Jaundice OMIM:611804
Thyroid Ectopia
Umbilical hernia, Jaundice, Ectopic thyroid ORPHA:95712
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Elevated tissue non-specific alkaline phosphatase, Enlarged ... ORPHA:785
Zttk Syndrome
Absent gallbladder, Curly hair, Sparse eyebrow, Patent ductus arteriosus, Flexion contracture, Fa... OMIM:617140
Trisomy 10P
Absent gallbladder, Small for gestational age, Camptodactyly ORPHA:171929
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhos... OMIM:267010
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Obesity OMIM:614231
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice ORPHA:3203
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Myositis, Pericarditis, Abnormal dental... ORPHA:3310
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... OMIM:261515
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... OMIM:300755
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... ORPHA:646
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Cryptorchidism, Patent ductus ... ORPHA:363611
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... OMIM:300845
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Cyanosis, Decreased response to growth hormone stimu... ORPHA:293987
Carney Complex
Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenom... ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Increased... ORPHA:99889
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Skin rash, Cachexia, Arteriosclerosis, Urticaria, Cutaneous photosen... ORPHA:220295
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation ORPHA:254528
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Short umbilical ... OMIM:256520
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Tetralogy of Fallot, Low posterior hairline OMIM:617925
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Hi... OMIM:300860
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Coronary artery atherosclerosis, Knee flexion contracture ORPHA:435638
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cutis marmorata, Abnormal dental enamel morphology, Congenital diaphrag... ORPHA:818
Elliptocytosis 3
Intermittent jaundice OMIM:617948
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Abnormality of the gallbl... ORPHA:280
3-Methylglutaconic Aciduria, Type Viii
Patent ductus arteriosus, Failure to thrive, Jaundice OMIM:617248
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis OMIM:264800
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Lipoma, Ne... ORPHA:733
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Insulinoma
Pituitary prolactin cell adenoma, Abnormality of the pancreatic islet cells, Primary hyperparathy... ORPHA:97279
Gastrocutaneous Syndrome
Synophrys, Coronary artery atherosclerosis, Hiatus hernia ORPHA:2069
Alkaptonuria
Coronary artery calcification, Osteoarthritis, Arthritis, Prostatitis, Atherosclerosis ORPHA:56
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Obesity, Abnormal B-ty... ORPHA:66529
Fabry Disease
Conjunctival telangiectasia, Transient ischemic attack, Angiokeratoma, Telangiectasia of the skin... ORPHA:324
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Meckel Syndrome, Type 2
Omphalocele, Bile duct proliferation OMIM:603194
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Failure to thrive in infancy, Transient ischemic attack, Sparse e... ORPHA:500150
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Splenomegaly, Flexion contracture, Subdura... ORPHA:90324
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Goiter OMIM:274300
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Sparse hair, Decreased testicular size OMIM:241080
Sotos Syndrome
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cryptorchidism, Paten... ORPHA:821
Metachromatic Leukodystrophy, Late Infantile Form
Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Cholecystitis ORPHA:309263
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Meckel Syndrome, Type 1
Accessory spleen, Omphalocele, Camptodactyly of finger, Malformation of the hepatic ductal plate,... OMIM:249000
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus, Biliary tract abnormality, Decrea... OMIM:261540
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation ORPHA:1708
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Eczematoid dermatitis, Increased body weight, Facial erythema ORPHA:64745
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, De... ORPHA:3464
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia, Thick eyebrow OMIM:300896
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Hellp Syndrome
Elevated hepatic transaminase, Poor wound healing, Cerebral hemorrhage, Increased body weight, In... ORPHA:244242
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta OMIM:208060
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder ORPHA:96176
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Flexion contracture, Increased body weight, Abdominal o... ORPHA:398069
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Premature birth, Polyhydramnios, Large placenta, Spinal dysraphism, Intrauterine growth retardation ORPHA:96334
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia ORPHA:116
Amyotrophic Lateral Sclerosis
ORPHA:803

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 Pon3

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 Pon3.

No publications found that use IMPC mice or data for Pon3.

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
Pon3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pon3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pon3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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