Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PZP, alpha-2-macroglobulin like
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pzp 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
Fever, Recurrent fever OMIM:260570
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Ragweed Sensitivity
Fever OMIM:179450
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Ataxia, Splenomegaly, Hepatomegaly, Gait disturbance ORPHA:2274
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Hypertension, Osteopoikilosis ORPHA:1879
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Ataxia, Jaundice OMIM:214980
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Polycystic ovaries, Pancreatitis ORPHA:79084
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Ataxia, Jaundice, Pigment gallstones OMIM:613470
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Eczema, Decreased liver function ORPHA:79278
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Gait disturbance OMIM:618400
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hepatic failure OMIM:177000
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis,... OMIM:214950
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Atax... OMIM:136300
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Small for gestational ag... ORPHA:567983
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Eczematoid dermatitis OMIM:269840
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Low posterior hairline OMIM:611881
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Obesity, Acute hepatic steatosis, Hepatit... ORPHA:209902
Rft1-Cdg
Ataxia, Failure to thrive, Hepatomegaly ORPHA:244310
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Failure to thrive, Elev... OMIM:617156
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Difficulty walking, Arthritis ORPHA:564003
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hepatic failure, Hepatomegaly, Failure to thrive OMIM:617872
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Skin rash OMIM:619175
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, D... ORPHA:566943
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Lethargy, Failure to thrive, Pancreatitis ORPHA:79312
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Premature o... OMIM:240300
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Glycogen Storage Disease Vii
Cholelithiasis, Gout, Jaundice OMIM:232800
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Difficulty walking OMIM:610717
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Hepatomegaly, Pancreatitis ORPHA:289916
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Fa... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Ataxia, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic liver di... ORPHA:79095
Immunodeficiency 104
Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Failure to thrive secondary to recur... OMIM:608971
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteroni... ORPHA:171876
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Testicular atrophy OMIM:160900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatin... ORPHA:71212
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Lethargy, Hepatomegaly, Pancreatitis ORPHA:27
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Hepatosplenomega... ORPHA:231222
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Retinitis Pigmentosa 59
Cryptorchidism, Failure to thrive, Elevated hepatic transaminase, Hepatomegaly OMIM:613861
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Decreased plasma carnitine, Hepatomegaly, Hepatocellular ... OMIM:201475
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hepatomegaly, Lethargy, Failure to thrive, Pancreatitis OMIM:251000
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis OMIM:614379
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Decreased body weight, Abnormality of the hairline, Elevated hep... OMIM:614886
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tract abnormality, Elevated hepa... ORPHA:79301
Carcinoid Syndrome
Abnormal B-type natriuretic peptide level, Hepatic necrosis, Elevated hepatic transaminase ORPHA:100093
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Lethargy ORPHA:26792
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Truncal ataxia, Waddling gait, Di... ORPHA:369840
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Splenomegaly, Hepatomegaly, Jaundice, Ataxia, Gout ORPHA:822
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Failure to thrive, Portal fibrosis, Ele... OMIM:614300
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Ppoma
Cholelithiasis, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Increased ci... ORPHA:97278
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Ulcerative c... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated circulating asp... OMIM:611182
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly, Failure to thriv... OMIM:232700
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance ORPHA:2398
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Bradykinesia, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:614924
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed proximal femoral epiphyseal ossification, Lethargy ORPHA:95717
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Ataxia OMIM:619273
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Polycystic ovaries, Pancreatitis ORPHA:435651
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hirsutism OMIM:612526
Sialuria
Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased body weight, Coarse hair, Woolly hair, Decreased liver function, Hepato... OMIM:618268
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Patchy alopecia, Decreased body weight, Shuffling gait, Cryptorchidism, Thick eye... OMIM:300534
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Isolated Biliary Atresia
Hypothyroidism, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atret... ORPHA:30391
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Ataxia, Acute hepatic failure, Failure to thrive,... OMIM:256810
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Grfoma
Cholelithiasis, Palmoplantar hyperhidrosis, Primary hyperparathyroidism, Hepatomegaly, Extrahepat... ORPHA:97261
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Failure to thrive, Pancreatitis OMIM:615947
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancrea... ORPHA:2348
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Elevated circulating C-reactive protein concentration, ... ORPHA:829
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Unsteady gait, Failure to thrive, Prolonge... OMIM:615512
Acquired Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis ORPHA:79087
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Ataxia, Hepatomegaly, Gait ataxia, Hepatic fibrosis OMIM:616719
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Increased... ORPHA:186
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Cardiomegaly OMIM:603903
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hepatomegaly, Decreased carnitine level in liver, Lethargy, Failure to thrive,... OMIM:212140
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis OMIM:614602
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Failure to thrive, Hepatomegaly ORPHA:67046
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Splenomegaly, Hepatomegaly OMIM:618495
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Elevated circulati... ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Hepatomegaly, Lethargy OMIM:618224
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Alopecia totalis OMIM:618775
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Galactose Mutarotase Deficiency
Failure to thrive, Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Chanarin-Dorfman Syndrome
Ataxia, Hepatic steatosis, Hepatomegaly, Alopecia OMIM:275630
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancrea... ORPHA:79083
Sandhoff Disease
Ataxia, Failure to thrive, Splenomegaly, Hepatomegaly ORPHA:796
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Bronchiectasis, Chroni... OMIM:615207
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Osteoarthritis, Hepatomegaly OMIM:606069
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Lethargy, Elevated hepatic transaminase, Decreased body mass ind... ORPHA:247585
Autosomal Agammaglobulinemia
Sinusitis, High palate, Recurrent skin infections, Agammaglobulinemia, Arthritis, Bronchiectasis,... ORPHA:33110
Intermediate Osteopetrosis
Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosis, Osteosclerosis of... ORPHA:210110
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Galactose Epimerase Deficiency
Weight loss, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Lethargy... OMIM:212138
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Cach Syndrome
Optic neuritis, Dysmetria, Hepatosplenomegaly, Premature ovarian insufficiency, Truncal ataxia, P... ORPHA:135
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Propionic Acidemia
Hepatomegaly, Lethargy, Eczema, Failure to thrive, Pancreatitis OMIM:606054
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Hepatic steatosis, Inability to walk, Decreased liver function, Ataxia,... ORPHA:70472
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Scarring alopecia of scalp, Sparse eyebrow, Splenomegaly, Hepat... ORPHA:59303
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Maple Syrup Urine Disease
Lethargy, Ataxia, Pancreatitis OMIM:248600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Pancreatitis, Iridocyclitis, Unsteady gait, Gait disturbance, Truncal ataxia, Alo... ORPHA:412057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Galactosemia Iii
Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Sickle Cell Anemia
Osteomyelitis, Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Brittle hair, Pancreatitis OMIM:236200
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Decreased body... ORPHA:444490
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive ORPHA:172
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Loss of ability to walk, Syncope, Atrioventricular block, Palpitations, Diffic... OMIM:616812
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Agammaglobulinemia, Arthritis, Hypocalcemia, Osteomyelitis, Hepat... ORPHA:47
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Failure to thrive, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Hepatosplenomegaly, Pneumonia, Increased ci... ORPHA:169160
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Metachromatic Leukodystrophy
Cholecystitis, Gallbladder dysfunction, Ataxia, Gait disturbance OMIM:250100
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Cholestasis-Lymphedema Syndrome
Erysipelas, Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neona... OMIM:214900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotran... OMIM:278000
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Hepatic steatosis, Hepatomegaly, Ataxia, Gait ataxia, Cirrhosis ORPHA:363400
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Increased body weight ORPHA:890
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Aspiration pneumonia, Nonprogressive cerebellar ataxia, Pancreatitis ORPHA:431361
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Ataxia, Thick hair, Failure to thrive, Elevated hepa... OMIM:613489
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Pancreatic adenocarcinoma, Hy... OMIM:145001
Tropical Pancreatitis
Weight loss, Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic ... ORPHA:103918
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Elevated hepatic transaminase, Cardiomegaly, Macrovesicular hepatic steat... OMIM:600649
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hepatomegaly, Lethargy, Elevated hepatic transaminase, Cardiomegaly OMIM:255120
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Portal hypertension, Hyponatremia, Hypercalcemia, Hepatome... ORPHA:88673
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Recurrent otitis ... OMIM:614921
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Legionnaires Disease
Infectious encephalitis, Endocarditis, Splenomegaly, Myocarditis, Jaundice, Ataxia, Hepatitis, Pa... ORPHA:549
Hodgkin Lymphoma
Splenomegaly, Ataxia, Hepatomegaly, Weight loss, Hyperhidrosis ORPHA:98293
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Elevated hepatic transaminase, Cho... OMIM:613404
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Increased circulating ferritin concentration, Decreased circulat... ORPHA:2442
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Weight loss, Arthritis, Parotitis, Maculopapular exanthema, Endo... ORPHA:31205
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Increased cir... OMIM:308230
Somatostatinoma
Gallbladder dysfunction, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Inc... ORPHA:97283
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Ataxia, Hepatomegaly, Lethargy, Elevated hepatic tra... ORPHA:42
Acquired Generalized Lipodystrophy
Generalized hirsutism, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, P... ORPHA:79086
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxia, Highly arched ... OMIM:220111
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Hyponatremia ORPHA:199296
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Obesity, Hepatomegaly,... OMIM:301066
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Lethargy OMIM:201450
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Elevated circulating C-reactive protein concentration, Jaundice, Abnormal... ORPHA:676
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Congenital Disorder Of Glycosylation, Type In
Ataxia, Failure to thrive, Hepatomegaly OMIM:612015
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Portal fibrosis, Elev... OMIM:616278
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Truncal ataxia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Hepatic periportal necrosis, Jaundice, Elevated circulating glut... OMIM:231680
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Hypothyroidism, C... OMIM:619487
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Panhypogammag... OMIM:209920
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly, Hepatomegaly, Hyperhidrosis ORPHA:86893
Griscelli Syndrome
Abnormal circulating lipid concentration, Splenomegaly, Hepatomegaly, Decreased circulating antib... ORPHA:381
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Obesity, Hepatomegaly, Gout ORPHA:412
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Lethargy, Elevated hepatic transaminase OMIM:246900
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase OMIM:618528
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Hepatomegaly, Failure to thrive, Portal fibrosis, Elevated he... ORPHA:369
Porphyria, Congenital Erythropoietic
Cholelithiasis, Hypertrichosis, Splenomegaly, Loss of eyelashes, Absent eyebrow, Alopecia, Conjun... OMIM:263700
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Long eyelashes, Hepatomegaly, Lethargy, Elevated hepatic transamina... OMIM:619064
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity ORPHA:243343
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... OMIM:616828
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Infectious encephalitis, Myocarditi... ORPHA:2552
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Decreased liver function, Hepatomegaly, Acute hepatitis, Hyperammonemia OMIM:238970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic transaminase ORPHA:300536
Melioidosis
Pneumonia, Parotitis, Cutaneous abscess, Prostatitis, Osteoarthritis, Hepatitis, Abnormality of t... ORPHA:31202
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cerebrotendinous Xanthomatosis
Cholelithiasis, Ataxia OMIM:213700
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Sparse eyebrow, Inability to walk, Sparse scalp hair, Diffic... ORPHA:464738
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Infectious encephalitis, Myocarditis, Hepatitis, Hypoalbuminemia, H... ORPHA:292
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Graft Versus Host Disease
Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormality ... ORPHA:39812
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Schnitzler Syndrome
Vasculitis, Increased bone mineral density, Arthritis ORPHA:37748
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia, Gait disturbance OMIM:609286
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Lethargy ORPHA:28
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis, Skin rash OMIM:105200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Hypohidrosis, Hepatomegaly, Alopecia OMIM:615704
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Crohn's disease, Lymphadenitis, Sple... OMIM:618935
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Elevated hepatic transaminase, Cho... OMIM:208085
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Systemic Capillary Leak Syndrome
Weight loss, Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Familial Thyroid Dyshormonogenesis
Bradycardia, Delayed proximal femoral epiphyseal ossification, Lethargy ORPHA:95716
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Cirrhosis ORPHA:774
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomegaly, He... OMIM:219700
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Pneumonia, Infectious encephalitis, El... ORPHA:454836
Hemochromatosis, Type 2A
Splenomegaly, Hepatomegaly, Lethargy, Cirrhosis, Arthritis OMIM:602390
Bohring-Opitz Syndrome
Cholelithiasis, Hypertrichosis, Inability to walk, Severe failure to thrive, Synophrys, Annular p... ORPHA:97297
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Elevated circulating creatinine concen... ORPHA:36234
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia, Ascites, Premature ovarian insufficiency ORPHA:100025
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly OMIM:615924
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Congenital Generalized Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Failure to thrive, Low anterior hairline, Hy... ORPHA:528
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Hepatomegaly, Cholestasis OMIM:614887
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Superficial dermal perivascular inflammatory infiltrate, Coarse hair, Cryptorchid... ORPHA:83617
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial nephritis, Acu... ORPHA:139402
Microscopic Polyangiitis
Sinusitis, Uveitis, Arthritis, Peritonitis, Increased inflammatory response, Episcleritis, Pancre... ORPHA:727
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Ascites, Jaundice, Ovarian neoplasm, Pancreatitis, Weight loss, Neoplasm of the panc... ORPHA:370348
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Splenomegaly, Hepatomegaly OMIM:615285
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital femoral epiphysis ORPHA:226313
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Generalized hirsutism, Hepatic steatosis, Polycystic ovaries, Splenome... ORPHA:280365
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Pfapa Syndrome
Arthritis, Infectious encephalitis, Splenomegaly, Hepatomegaly, Weight loss ORPHA:42642
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Arthritis, Glomerulonephritis, Eczema, Erythroderma, Hepatitis, Villous atrophy, Increased... OMIM:304790
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Failure to thrive... ORPHA:370
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carcin... OMIM:232200
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Weight loss ORPHA:99978
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Allergic rhinitis, Failu... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Failure to thrive, Intermittent jaundice, C... OMIM:601847
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatitis, Asplenia, Keratoconjunctivitis, ... OMIM:269200
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Parathyroid adenoma, Pancreatitis OMIM:145980
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Osteopenia, Osteoporosis, Atrial fibrillation, Prolonged QT interval, Bradyc... OMIM:613327
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Hepatomegaly, Jaundice, Failure to thrive, Elevate... ORPHA:79333
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly OMIM:614870
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hepatomegaly, Lethargy, Episodic hyperhidrosis, Focal pancreatic islet... ORPHA:276575
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Ataxia, Lethargy, ... ORPHA:20
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Decreased circulating beta-2-microglobulin level, Decreased ci... ORPHA:572
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carcin... OMIM:232220
Mccune-Albright Syndrome
Cholestasis, Goiter, Hyperthyroidism, Elevated circulating growth hormone concentration, Increase... ORPHA:562
Tetanus
Bradycardia, Tachycardia, Stiff neck, Hypertension ORPHA:3299
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Lethargy ORPHA:319218
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:235555
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormality of the liver, Hepatomegaly, Jaundice ORPHA:234
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly, Lethargy OMIM:614922
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Viral hepatitis, Recurrent otitis media, Cholangitis, Rheumatoid... ORPHA:183675
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly ORPHA:586
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly, Ascites ORPHA:2198
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Chronic pancreatitis OMIM:608189
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hepatomegaly, Lethargy, Episodic hyperhidrosis, Diffuse pancreatic isl... ORPHA:276556
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Nonprogressive cerebellar ataxia, Decreased tes... OMIM:610198
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Brittle hair, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Alstrom Syndrome
Hepatic steatosis, Hypothyroidism, Recurrent pneumonia, Tubulointerstitial nephritis, Hepatomegal... OMIM:203800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Intestinal malrotation, Colonic atresia, Decreased circu... OMIM:243150
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Aspergillosis
Sinusitis, Pneumonia, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Hepatitis, Keratiti... ORPHA:1163
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Hirsutism, Polycystic ovaries OMIM:604367
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Galactosemia
Hepatic failure, Ascites, Cryptorchidism, Hepatomegaly, Jaundice, Ataxia, Lethargy, Failure to th... ORPHA:352
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenom... OMIM:610199
Wilson Disease
Hepatic failure, Osteoarthritis, Hepatomegaly, Atypical or prolonged hepatitis, Esophageal varix,... OMIM:277900
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Ataxia, Elevated hepatic transaminase, Alopecia, Micronodular ci... ORPHA:98907
Lysinuric Protein Intolerance
Splenomegaly, Fine hair, Hepatomegaly, Truncal obesity, Failure to thrive, Pancreatitis, Sparse hair OMIM:222700
Metachromatic Leukodystrophy
Ataxia, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Gait disturbance, Hemobilia... ORPHA:512
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Failure to thrive... ORPHA:264580
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Flexion contracture, Limited hip extension OMIM:614653
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly OMIM:607685
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Eczema, Alopecia, Skin rash ORPHA:2584
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Brittle hair, Hepatomegaly, Alopecia ORPHA:50812
Acute Liver Failure
Hepatocellular necrosis, Jaundice, Hepatic periportal necrosis, Hepatic necrosis, Hepatitis, Elev... ORPHA:90062
Hemophagocytic Lymphohistiocytosis, Familial, 4