Gene: Pzp MGI:87854

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
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
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis 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, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Hypertension, Osteopoikilosis ORPHA:1879
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... 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
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Ataxia, Cholelithiasis, Giant cell hepatitis OMIM:214980
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Autosomal Erythropoietic Protoporphyria
Eczema, Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Increased circulating ferritin concentration, Folliculitis, ... OMIM:300635
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Ataxia, Jaundice, Pigment gallstones, Splenomegaly, Cholecystitis OMIM:613470
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase OMIM:618400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Adrenal... OMIM:619386
Protoporphyria, Erythropoietic, 1
Hepatic failure, Eczema, Cholelithiasis OMIM:177000
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Alpha-Thalassemia
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly ORPHA:846
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Pancreatitis OMIM:618230
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanine aminotransfe... ORPHA:53035
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis OMIM:234350
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Rft1-Cdg
Hepatomegaly, Failure to thrive, Ataxia ORPHA:244310
Glycogen Storage Disease Xii
Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly, Low posterior hairline OMIM:611881
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Hepatomegaly, Pancreatitis, Splenomegaly, Failure to thrive ORPHA:79312
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Erythrocytosis, Familial, 8
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:222800
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hepatomegaly, Failure to thrive, Hepatic failure OMIM:617872
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis ORPHA:564003
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, J... ORPHA:521219
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Xerostomia, Jaundice, Keratoconjunctivit... OMIM:260480
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Primary adrenal insufficiency,... OMIM:240300
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:266200
Dystonia 23
Axial dystonia, Arrhythmia, Gait disturbance, Writer's cramp, Torticollis, Limb dystonia OMIM:614860
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholecystitis, Cholelithiasis, Splenomegaly OMIM:235700
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Mueller-Weiss Syndrome
Limitation of movement at ankles, Difficulty walking, Sclerosis of foot bone, Joint stiffness, Kn... ORPHA:566943
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Dystonia, Lethargy, Pancreatitis ORPHA:289916
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, Splenomegaly, Eczem... OMIM:608971
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Glycogen Storage Disease Vii
Jaundice, Gout, Cholelithiasis OMIM:232800
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Cirrhosis, Acute hepatic failure, Uveitis, Abnormal biliary t... ORPHA:171
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hepatic steatosis, Difficulty walking, Elevated hepatic transaminase OMIM:610717
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Failure to thrive, Colitis OMIM:615947
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Marburg Hemorrhagic Fever
Skin rash, Lethargy, Elevated hepatic transaminase, Weight loss, Jaundice, Pancreatitis ORPHA:99826
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Dystonia, Lethargy, Failure to thrive ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly OMIM:194380
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase, Failure to thrive OMIM:613861
Beta-Thalassemia Intermedia
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Cholelithiasis, Hepatomegaly, Jaundice, Adre... ORPHA:231222
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Sialuria
Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Attention defici... ORPHA:3166
Myotonic Dystrophy 1
Frontal balding, Testicular atrophy, Cholelithiasis OMIM:160900
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Dystonia, Failure to thrive ORPHA:67046
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Ataxia, Pancreatitis ORPHA:27
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Ataxia, Cholelithiasis, Hepatomegaly OMIM:619273
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Failure to thriv... OMIM:232700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Pancreatitis OMIM:251000
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepatomegaly, Failure to t... OMIM:614924
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Abnormality of the hairline, Decreased body weight, Cholelithiasis... OMIM:614886
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance ORPHA:2398
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegal... ORPHA:369840
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97278
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Triosephosphate Isomerase Deficiency
Dystonia, Cholecystitis, Cholelithiasis, Jaundice, Unsteady gait, Splenomegaly OMIM:615512
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia OMIM:616299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Hereditary Spherocytosis
Maculopapular exanthema, Cholelithiasis, Ataxia, Hepatomegaly, Jaundice, Gout, Splenomegaly ORPHA:822
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Fulminant h... OMIM:231530
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Increased total bilirubin, Eleva... ORPHA:2137
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ... OMIM:614300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Dystonia, Microvesi... OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Lef... OMIM:619048
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Splenomegaly ORPHA:139406
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:612526
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia, Delayed proximal femoral epiphyseal ossification ORPHA:95717
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis,... ORPHA:905
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Carcinoid Syndrome
Hepatic necrosis, Abnormal B-type natriuretic peptide level, Elevated hepatic transaminase ORPHA:100093
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Elevated circulating ... OMIM:614921
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dystonia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent otitis media, Failure to thrive, Splenomegaly OMIM:618495
Trichohepatoneurodevelopmental Syndrome
Curly hair, Coarse hair, Cholelithiasis, Synophrys, Hepatomegaly, Hypoplastic nipples, Decreased ... OMIM:618268
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Gait ataxia, Pancreatitis OMIM:606721
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97261
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Uncombable hair, Colitis, Hepatomegaly, Hepatitis, Small for gestational ... OMIM:614602
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Acquired Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis ORPHA:79087
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Abnormal circulating lipid concentration,... ORPHA:829
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Hypothyroidism, Periportal fibrosi... ORPHA:30391
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Generalized hirs... ORPHA:2348
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hepatic steatosis, Ataxia, Hepatomegaly, Limb dystonia, Hyperactivity, Ge... ORPHA:363400
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Sandhoff Disease
Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly ORPHA:796
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Failure to thrive, Cholestasis ORPHA:570422
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Hepatocellular carcino... ORPHA:186
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatocell... ORPHA:247585
Carnitine Deficiency, Systemic Primary
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine level in liver, H... OMIM:212140
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Increased circulating lactate dehydrog... ORPHA:26791
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Small for gestational age, Cholelithiasis OMIM:618775
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Galactosemia Iii
Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:230350
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Increased cir... ORPHA:562639
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia, Alopecia OMIM:275630
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Gener... ORPHA:79083
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly ORPHA:172
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Elevated hepatic transaminase, Failure to thrive OMIM:615895
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Ataxia, Hyperactivity OMIM:615924
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Propionic Acidemia
Dystonia, Lethargy, Hepatomegaly, Pancreatitis, Failure to thrive, Eczema OMIM:606054
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Chola... ORPHA:480520
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Jaundice, Sparse scalp hair, Sparse and th... ORPHA:59303
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Agammaglobulinemia, R... ORPHA:33110
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Metachromatic Leukodystrophy
Dystonia, Gait disturbance, Ataxia, Gallbladder dysfunction, Cholecystitis OMIM:250100
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Aspiration pneumonia, Failure to thrive, Pancreatitis, Nonprogressive cerebellar ataxia ORPHA:431361
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Increased circulating antibody level, Pneumonia, Decrease... ORPHA:169160
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Chronic otitis media, Conjunctivitis, Hepatitis, Gl... ORPHA:47
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Truncal ataxia, Difficulty walking, Hypothyroidism, Gait disturbance, Limb ataxia,... ORPHA:412057
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites ORPHA:890
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Maple Syrup Urine Disease
Lethargy, Ataxia, Pancreatitis OMIM:248600
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Failure to thrive, Brittle hair, Pancreatitis OMIM:236200
Cach Syndrome
Truncal ataxia, Limb ataxia, Optic neuritis, Pancreatitis, Dysmetria, Hepatosplenomegaly, Prematu... ORPHA:135
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Decreased liver function OMIM:246900
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, P... ORPHA:444490
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Weig... ORPHA:131
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Osteomyelitis, Cholestasis ORPHA:232
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Joint contracture of the 5th finger, Atrioventricular block, Bradycardia OMIM:614407
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Hyperparathyroidism, Pancreat... OMIM:145001
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Hodgkin Lymphoma
Weight loss, Ataxia, Hepatomegaly, Hyperhidrosis, Splenomegaly ORPHA:98293
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Abnormal enzy... ORPHA:3111
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiome... OMIM:600649
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:613404
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Hyperhidrosis, Weight loss, Splenomegaly ORPHA:86893
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Failure to thrive, Ataxia OMIM:612015
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Bradycardia OMIM:614498
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Somatostatinoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Incr... ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Thick hair, Ataxia, Hepatomegaly, Hepatic failure, Sple... OMIM:613489
Cryptosporidiosis
Weight loss, Biliary tract abnormality, Cholangitis, Failure to thrive, Pancreatitis ORPHA:1549
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased circulating ferritin concentration, Increased circ... ORPHA:2442
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgM level, Decreased circulating IgE, Sclerosing cholangitis, St... OMIM:308230
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries,... ORPHA:79086
Legionnaires Disease
Endocarditis, Pericarditis, Ataxia, Jaundice, Hepatitis, Splenomegaly, Encephalitis, Pancreatitis... ORPHA:549
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis, Hyponatremia ORPHA:199296
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Abdominal aseptic abscess, Lymphadenit... ORPHA:31205
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Griscelli Syndrome
Decreased circulating antibody level, Abnormal circulating lipid concentration, Hepatomegaly, Jau... ORPHA:381
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Ataxia, Hepatomegaly, Decreased liver... ORPHA:42
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegal... ORPHA:369
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Low anterior hairline, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis OMIM:105200
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Lethargy, Elevated hepatic transaminase OMIM:201450
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Elevated circulating C-reactive prote... ORPHA:676
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Elevated hepatic transaminase, Long eyelashes, Synophrys, Failure to thrive in infancy,... OMIM:619064
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Abnormal rectum... ORPHA:88673
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Biliary tract abnormality, Colitis, C... OMIM:209920
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Failure to th... OMIM:211600
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Hypohidrosis, Erysipelas, Alopecia OMIM:615704
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Avian Influenza
Myelitis, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentratio... ORPHA:454836
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Hepatomegaly, Alopecia of scalp, Failure to thrive, Splenomegaly, Decreased tes... OMIM:201100
Porphyria, Congenital Erythropoietic
Absent eyebrow, Cholelithiasis, Conjunctivitis, Hypertrichosis, Loss of eyelashes, Alopecia, Sple... OMIM:263700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Jaundice, Hepa... OMIM:231680
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Abnormal enzyme/coenzyme activity ORPHA:243343
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Decrea... OMIM:615486
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Failure to thrive ORPHA:28
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Obesity ORPHA:412
Microsporidiosis
Peritonitis, Thyroiditis, Pneumonia, Biliary tract abnormality, Weight loss, Abnormality of the p... ORPHA:2552
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Elevated he... ORPHA:39812
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Congenital Enterovirus Infection
Skin rash, Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Myocarditis, Encephalitis, H... ORPHA:292
Melioidosis
Prostatitis, Cutaneous abscess, Splenic abscess, Acute infectious pneumonia, Pneumonia, Septic ar... ORPHA:31202
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Hypertens... ORPHA:1306
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Pelvic mass, Weight loss, Jaundice, Torticollis, Ascites, Pancreatitis, Neoplas... ORPHA:370348
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Alopecia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Jaundice, Cho... OMIM:208085
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Sparse eyebrow, Difficulty walking, Cholelithiasis, Sparse scalp hair, Recurre... ORPHA:464738
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Hemochromatosis, Type 2A
Cirrhosis, Lethargy, Hepatomegaly, Splenomegaly, Arthritis OMIM:602390
Ddost-Cdg
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Primary hypothyroidism ORPHA:300536
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Splenomegaly, Recurrent ... OMIM:618935
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Schnitzler Syndrome
Vasculitis, Arthritis, Increased bone mineral density ORPHA:37748
Cerebrotendinous Xanthomatosis
Ataxia, Cholelithiasis OMIM:213700
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Splenomegaly OMIM:613313
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615285
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Cholelithiasis, Hepatic failure, Cholecystitis, Portal hypertension ORPHA:774
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Systemic Capillary Leak Syndrome
Weight loss, Pericarditis, Pancreatitis, Myocarditis ORPHA:188
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia, Delayed proximal femoral epiphyseal ossification ORPHA:95716
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency, Pancreatitis OMIM:167800
Bohring-Opitz Syndrome
Inability to walk, Synophrys, Cholelithiasis, Hypertrichosis, Cardiomegaly, Severe failure to thr... ORPHA:97297
Cystic Fibrosis
Chronic sinusitis, Cirrhosis, Exocrine pancreatic insufficiency, Bronchiectasis, Biliary cirrhosi... OMIM:219700
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Cholelithiasis, Splenomegaly ORPHA:3202
Gaucher Disease Type 2
Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Farber Lipogranulomatosis
Hepatomegaly, Arthritis, Failure to thrive, Splenomegaly OMIM:228000
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Pneumonia, S... ORPHA:36234
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency ORPHA:977
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, C... ORPHA:83617
Klatskin Tumor
Extrahepatic cholestasis, Weight loss, Hepatomegaly, Jaundice, Cholangiocarcinoma ORPHA:99978
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Increased bone mineral density, Laryn... ORPHA:36913
Congenital Generalized Lipodystrophy
Low anterior hairline, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertrich... ORPHA:528
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Pfapa Syndrome
Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Arthritis ORPHA:42642
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyroiditis, Erythro... ORPHA:139402
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Failure ... OMIM:612714
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hepatosplenome... OMIM:619013
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Hepatomegaly, Large for g... ORPHA:276575
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic hepatitis, Hepatitis, Asplenia... OMIM:269200
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Bradycardia, Delayed epiphyseal ossification ORPHA:226313
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Spl... ORPHA:280365
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Villous atrophy, Glomerulonephritis, Hepatitis, Il... OMIM:304790
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Episcleritis, Pan... ORPHA:727
Galactosemia
Cryptorchidism, Cirrhosis, Dystonia, Lethargy, Elevated hepatic transaminase, Premature ovarian i... ORPHA:352
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency ORPHA:586
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Hepatomegaly, Large for g... ORPHA:276556
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Niemann-Pick Disease Type B
Cirrhosis, Cholelithiasis, Neoplasm of the liver, Hepatomegaly, Ataxia, Decreased liver function,... ORPHA:77293
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252900
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Flexion contracture, Atrial fibrillation, Tachycardia, Prolonged QT interval, Osteo... OMIM:613327
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Variegate Porphyria
Tachycardia OMIM:176200
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis, Hirsutism, Polycystic ovaries OMIM:604367
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Hepatomegaly, Jaundice, Conjunctivitis, Splenomegaly OMIM:603552
Classic Mycosis Fungoides
Skin rash, Hepatomegaly, Alopecia, Splenomegaly, Eczema ORPHA:2584
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Crimean-Congo Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Hepatic steatosis, Uveitis, Jaundice ORPHA:99827
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Gout, Pan... OMIM:232200
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Biliary atresia, Attention deficit hyperactivity disorder ORPHA:565899
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Biliary tract abnormality, Cholestasis ORPHA:79168
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Failure to thrive, Brittle hair, Alopecia ORPHA:50812
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Tetanus
Stiff neck, Tachycardia, Hypertension, Bradycardia ORPHA:3299
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Elevated hepatic transaminase, Ataxia, Acute pancreatitis, Hepatomegaly, Jaundice, Weig... ORPHA:20
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Skin rash, Decreased circulating beta-2-micro... ORPHA:572
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Splenomegaly ORPHA:100024
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Alstrom Syndrome
Nephritis, Elevated hepatic transaminase, Multinodular goiter, Chronic active hepatitis, Hypothyr... OMIM:203800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Limited hip extension, Flexion contracture, Tachycardia, Bradycardia OMIM:614653
Gastrointestinal Defects And Immunodeficiency Syndrome
Interface hepatitis, Intestinal malrotation, Hypoplasia of the thymus, Psoriasiform dermatitis, I... OMIM:243150
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Gout, Pan... OMIM:232220
Metachromatic Leukodystrophy
Dystonia, Hemobilia, Gait disturbance, Toe walking, Ataxia, Abnormal gallbladder morphology, Neop... ORPHA:512
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy OMIM:614922
Gallbladder Neuroendocrine Tumor