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Gene: Ptcd1 MGI:1919049

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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:
pentatricopeptide repeat domain 1
Synonyms:
1110069M14Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptcd1 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 Ptcd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspart... OMIM:619048
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:232400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... ORPHA:71529
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypertension, Hepatic stea... ORPHA:79084
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Elevated transferr... ORPHA:79230
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... OMIM:615980
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Hepa... OMIM:613877
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep... OMIM:613759
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... OMIM:615238
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia, Abno... OMIM:300438
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Congestive ... ORPHA:528
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Obesity, Chole... OMIM:615630
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Diabetes mellitus, Increased mitochon... ORPHA:263297
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... ORPHA:446
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Failure t... ORPHA:26792
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... OMIM:615981
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r... ORPHA:79083
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... OMIM:617253
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase, Increased intramyocellular lipid... ORPHA:457050
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... ORPHA:79319
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... OMIM:615812
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... ORPHA:228305
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Telangiecta... OMIM:615381
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... OMIM:201475
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Cirrhosis... ORPHA:363400
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... ORPHA:435660
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Decre... OMIM:231530
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Autoinflammatory-Pancytopenia Syndrome
Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failur... OMIM:619858
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypoplastic left heart... OMIM:615996
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity, Cryptorchidism ORPHA:2377
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Cholestasis, Go... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Cholestasis, Go... ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Congestive heart failure, In... ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Decreased activity of mitochondrial complex IV, Obesity OMIM:619058
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... ORPHA:324575
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Ethanolaminosis
Cardiomegaly OMIM:227150
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Micronodular ci... OMIM:606003
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Nephronophthisis 16
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615382
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type II diabetes mell... ORPHA:3191
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity OMIM:620270
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... ORPHA:276556
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Decreased activity of mitochondrial complex IV, Abnormal heart morpholo... ORPHA:70472
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Decreased mitochondrial number, Slender build ORPHA:352470
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... ORPHA:2088
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:212138
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Reduced systolic function, Elevated circulating alani... OMIM:618805
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest... OMIM:615415
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... ORPHA:69663
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hyper... OMIM:602579
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Reduced l... OMIM:614096
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decreased liver functio... OMIM:601466
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Decrease... OMIM:619064
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... OMIM:614921
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly,... ORPHA:231226
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... OMIM:620135
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, D... ORPHA:280365
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertensio... OMIM:619487
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Decr... OMIM:614702
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism,... ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Monosomy 13Q34
Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Common at... ORPHA:96168
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... ORPHA:98908
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Jaundice, Hyperl... ORPHA:444490
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... OMIM:615418
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Placental Insufficiency
Insulin resistance, Small for gestational age, Abnormal heart morphology ORPHA:439167
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Aromatase Deficiency
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia OMIM:619063
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... OMIM:608594
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... ORPHA:369873
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Tachyca... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hyperalan... OMIM:618250
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... OMIM:619013
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Mitral valve prolapse, Azoospermia, Abnormality of the h... ORPHA:2183
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... OMIM:616516
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ... ORPHA:465508
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Low plas... OMIM:261680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv... OMIM:619418
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Leptin Deficiency Or Dysfunction
Decreased testicular size, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Mehmo Syndrome
Cryptorchidism, Diabetes mellitus, Obesity ORPHA:85282
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Abnormal heart mor... OMIM:182290
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... ORPHA:101330
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... OMIM:300972
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Obesity, Mitral valve prolapse ORPHA:2233
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Decreased activity of mi... OMIM:619170
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Di... ORPHA:48818
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Precocious puberty, Hypothyroidism, Hyperlipidem... ORPHA:254346
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Bardet-Biedl Syndrome
Cryptorchidism, Obesity, Hypertension, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Abnormality ... ORPHA:91130
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovole... ORPHA:275761
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ... ORPHA:14
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla... OMIM:619313
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance,... ORPHA:769
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gall... ORPHA:171
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Perica... OMIM:212065
Senior-Loken Syndrome
Congenital hepatic fibrosis, Hypertension ORPHA:3156
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Cachexia, Myocardial infar... ORPHA:3452
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... OMIM:222470
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... OMIM:602541
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Hyperlipidemia, Abnormal tricuspid valve morphology ORPHA:199276
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:3085
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... ORPHA:84064
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Decreased activity of mitochondrial comp... OMIM:256810
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:613101
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Abnormal mitochondrial shape... ORPHA:17
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple... ORPHA:90041
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh... OMIM:616263
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism, Obesity OMIM:615985
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... ORPHA:2457
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... ORPHA:71
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity, Abnormal heart morphology ORPHA:254525
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Diabetes mellitus, Telangiect... ORPHA:100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... ORPHA:79303
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Conjugate... ORPHA:186
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Hep... OMIM:216360
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Hepatic fibrosis, Portal hypertension, Retinal telangiectasia OMIM:617341
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Mitral valve prolapse, Hyperhomocystinemia, Disproportionate tall stature,... OMIM:236200
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Transient hyperl... ORPHA:156
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... ORPHA:615
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Insulin resistance, Dilated cardiomyopathy, Truncal obesity, A... OMIM:616541
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Ven... OMIM:601005
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Insulin resistance, Failure to thrive, Small for gestational age OMIM:214150
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... ORPHA:298
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Delayed puberty OMIM:301900
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity OMIM:615982
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Electron transfer flavoprotein-ubiquinone oxidoreductase de... OMIM:231680
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... ORPHA:890
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Bilateral cryptorchidism, Microvesicular he... ORPHA:66634
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimot... ORPHA:358
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c... ORPHA:369840
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Abnormal heart morphology OMIM:263210
Summitt Syndrome
Obesity OMIM:272350
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice ORPHA:858
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Hepatic steatosis, Elevated circulating creatine kinase concentration, Congestive... ORPHA:52430
Fumarase Deficiency
Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Perimembranou... OMIM:606812
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Delayed puberty, Hypoglyc... ORPHA:79259
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff... OMIM:617575
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... ORPHA:974
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Megalencephaly
Atrial septal defect, Truncal obesity, Macroorchidism ORPHA:2477
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Insulin resistance, O... ORPHA:813
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Bile duct proliferation, Macrovesic... OMIM:618329
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hy... ORPHA:348
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Ddost-Cdg
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Primary hypothyroidism ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Decreased activ... OMIM:616672
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Insulin resistance, ... ORPHA:902
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Adiposis Dolorosa
Obesity OMIM:103200
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Dilated cardiomyopathy, Hepatic fibrosis OMIM:613989
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... OMIM:300280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... OMIM:619534
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Obesity, Hyperglycemia OMIM:619737
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Decreased pyruvate carboxylase activit... OMIM:229300
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... ORPHA:230
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Leprechaunism
Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyp... ORPHA:508
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Splenomegaly, Ja... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Hypoplastic left heart, Obesity, Polysplenia OMIM:610543
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Hypothyroidism, Obesity, Subvalvular aortic stenosis OMIM:600430
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy... ORPHA:699
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Type II diabetes mellitus, ... ORPHA:10
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Obesity OMIM:618821
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Hypergonadotr... ORPHA:2959
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Cardiomyopathy, Hepatic steatosis, Neonatal hypogl... ORPHA:445038
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Obesity ORPHA:1035
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Hyperte... OMIM:219090
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal circulating leptin concentra... ORPHA:79474
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Meckel Syndrome 14
Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis, Single ventricle OMIM:619879
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Abnormal cardiovascular system physiology, Hepatosplenom... ORPHA:168569
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Cholangitis, Portal hypertension, ... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Insulin resistance, Pulmonary insufficiency, Ventricular septal hypert... OMIM:619322
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:619518
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Glucose intolerance, Hepatic fibrosis, Atrial septa... ORPHA:881
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Hypocalcemia, Elevated hep... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Disproportionate tall stature, Mitral regurgitation, A... OMIM:301039
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Elevated circulating th... OMIM:618183
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism, Cryptorchidism ORPHA:3459
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Chung-Jansen Syndrome
Cryptorchidism, Obesity OMIM:617991
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Hypertrophic cardi... ORPHA:436271
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Trisomy 5P
Obesity ORPHA:1742
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Decreased activity of mitochondrial co... OMIM:614947
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Hypothyroidism, Cryptorchid... OMIM:620005
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ... OMIM:270450
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... ORPHA:567548
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Hepatic steatosis, Thyroid carcinoma ORPHA:210548
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:94065
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... ORPHA:1454
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Abnormality of mitochondrial metabolism, Hyperammonemia, Hypertrophic... ORPHA:391428
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Farber Disease
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... ORPHA:333
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... OMIM:618652
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tr... OMIM:619127
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Cardiac... ORPHA:20
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Cardiomyopathy OMIM:614922
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210200
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Ventricular septal defect... OMIM:118450
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Morm Syndrome
Truncal obesity ORPHA:75858
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... OMIM:619051
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Obesity, Cryptorchidism OMIM:619185
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Short Syndrome
Insulin resistance, Diabetes mellitus, Weight loss ORPHA:3163
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Obesity, Abnormal cardiac septum morpho... ORPHA:589821
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Decreased activity of mitochondrial complex IV, Decreased activity of mi... OMIM:616539
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... OMIM:612462
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Hypothyroidi... OMIM:243800
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth OMIM:605309
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis OMIM:601539
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Splenomegaly, Abnormality... ORPHA:2072
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss, Hypertrophic cardiomyopathy, Abnormal cardiac septum morpho... ORPHA:251071
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Abnormal he... ORPHA:369837
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial... OMIM:263520
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Decreased circulating ceruloplasmin conc... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... OMIM:220110
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Carpenter Syndrome 1
Ventricular septal defect, Precocious puberty, Cryptorchidism, Obesity, Transposition of the grea... OMIM:201000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Obesity ORPHA:3077
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... OMIM:208500
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Cryptorchidism, Obesity, Conotruncal defect, Abnormal ca... ORPHA:96147
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Immunodeficiency 61
Obesity OMIM:300310
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Clark-Baraitser Syndrome
Obesity OMIM:617752
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:308552
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... ORPHA:91355
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98754
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Mednik Syndrome
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Chol... OMIM:609313
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Obesity, A... ORPHA:398079
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thrive OMIM:617591
Wagr Syndrome
Cryptorchidism, Obesity ORPHA:893
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Rafiq Syndrome
Truncal obesity, Obesity OMIM:614202
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Male hypogonadism, Atrial septa... OMIM:619471
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
Baralle-Macken Syndrome
Obesity OMIM:619255
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Obesity, Pseudohypoparathyroidism ORPHA:464288
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... ORPHA:273
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98793
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Ataxia-Oculomotor Apraxia Type 4
Obesity, Telangiectasia ORPHA:459033
Alg9-Cdg
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Pericardial effu... ORPHA:79328
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
48,Xxxy Syndrome
Pulmonary embolism, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II diabetes mellitus... ORPHA:96263
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177904
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177901
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... OMIM:214110
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty ORPHA:90154
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly OMIM:619802
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism, Decreased testicular size, Cryptorchidism OMIM:300882
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Obesity ORPHA:171839
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... ORPHA:31150
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypoalbuminemia, Macrovesicular hepatic ste... OMIM:617303
Bardet-Biedl Syndrome 17
Situs inversus totalis, Hypogonadism, Dextrocardia, Obesity OMIM:615994
Schaaf-Yang Syndrome
Hypogonadism, Cryptorchidism, Failure to thrive in infancy, Obesity OMIM:615547
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... ORPHA:99931
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera... OMIM:606721
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia ORPHA:2928
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Mitral st... ORPHA:740
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Lo... ORPHA:86816
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Enlarged kidney OMIM:200995
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Mitral valve prolapse ORPHA:536532
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circulatin... OMIM:615830
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Hepatic fibrosis, ... OMIM:218330
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Obesity, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal... ORPHA:261197
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Orofaciodigital Syndrome I
Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Hepatic cysts OMIM:311200
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Insulin resistance, Telangiectasia, Oligozoospermia... ORPHA:125
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... OMIM:601992
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... OMIM:266500
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... OMIM:239850
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:103580
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Radio-Tartaglia Syndrome
Precocious puberty, Ventricular septal defect, Obesity OMIM:619312
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, Abnormality of the hyp... ORPHA:3157
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ventricular septal defect, Elevat... OMIM:619525
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism OMIM:612463
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:3409
Arima Syndrome
Hepatomegaly, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Carpenter Syndrome
Cryptorchidism, Obesity, Polysplenia ORPHA:65759
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanth... OMIM:232200
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine ... ORPHA:254892
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Decreased testicular size OMIM:300354
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusio... ORPHA:167
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:615273
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Periportal fibrosis, Patent foramen ovale OMIM:269860
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Hypoglycemia, Microvesicular he... OMIM:220111
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:615846
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... OMIM:261740
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Cryptorchidism, Increased body weight, Absence of puberta... ORPHA:398069
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Ring Chromosome Y Syndrome
Streak ovary, Unilateral cryptorchidism, Cryptorchidism, Obesity, Azoospermia, Male hypogonadism ORPHA:261529
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturity-onset diabet... ORPHA:96149
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity, Cryptorchidism OMIM:300957
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive ORPHA:778
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Obesity, Hypotension ORPHA:439822
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, Hypothyroidism ORPHA:349
Beckwith-Wiedemann Syndrome
Hepatomegaly, Tall stature, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-f... ORPHA:116
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Hyp... OMIM:613658
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Chops Syndrome
Ventricular septal defect, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmonary venous retu... OMIM:616368
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... OMIM:618278
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Obesity, Arrhythmia, Tetralogy ... ORPHA:261494
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ... OMIM:614008
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
White-Sutton Syndrome
Obesity, Hypoglycemic seizures, Atrial septal defect, Failure to thrive, Patent foramen ovale OMIM:616364
Retinitis Pigmentosa 51
Obesity OMIM:613464
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Obesity, Increased blood urea nitrogen, Hypertension, Delayed puberty, Enlarged ki... ORPHA:251004
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:158048
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly OMIM:619259
Cohen Syndrome
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Obesity, Mitral valve pr... ORPHA:193
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity, Hypogonadism, Decreased testicular size ORPHA:3041
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Ulnar-Mammary Syndrome
Ventricular septal defect, Cryptorchidism, Obesity, Delayed puberty, Arrhythmia ORPHA:3138
Prader-Willi Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... OMIM:176270
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Laurence-Moon Syndrome
Obesity OMIM:245800
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity ORPHA:261222
Kleefstra Syndrome 1
Cryptorchidism, Obesity, Conotruncal defect OMIM:610253
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Mitral valve pr... OMIM:216550
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hepatomegaly, Obesity ORPHA:163681
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carc... OMIM:130650
Cimdag Syndrome
Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Den Hoed-De Boer-Voisin Syndrome
Overweight, Ventricular septal defect, Obesity, Decreased body weight OMIM:619229
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elev... ORPHA:79318
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:615926
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Precocious puberty, Splenomegaly, Cryptorchidism, Hypert... OMIM:270400
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia ORPHA:79477
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, S... ORPHA:564
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Adiposis Dolorosa
Telangiectasia of the skin, Hypothyroidism, Obesity ORPHA:36397
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
3Q29 Microduplication Syndrome
Ventricular septal defect, Obesity ORPHA:251038
Down Syndrome
Type II diabetes mellitus, Hypothyroidism, Obesity ORPHA:870
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Shox-Related Short Stature
Obesity ORPHA:314795
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Slender build, Hypogonadotropic hypogonadism, Decreased response to growth ... ORPHA:3455
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Birth length greater t... OMIM:300868
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis OMIM:603903
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Abnormal glycosphingolip... OMIM:268800
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Retinal telangiectasia, Obesity, Overgrowth OMIM:620155
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity ORPHA:284180
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ... OMIM:248370
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Atrial septal defect, Left vent... ORPHA:79330
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Chole... OMIM:301066
1P36 Deletion Syndrome
Failure to thrive, Abnormal heart valve morphology, Abnormality of the spleen, Hypothyroidism, Di... ORPHA:1606
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Streak ovary, Obesity OMIM:194072
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79444
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Achalasia, Delayed pube... ORPHA:324
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Borjeson-Forssman-Lehmann Syndrome
Truncal obesity, Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:127
Digeorge Syndrome
Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathyroid hormone level,... OMIM:188400
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Obesity, Aortic regurgitation OMIM:620072
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... ORPHA:391665
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma,... OMIM:232240
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Aortic regurgitation, Bicuspid aortic valve, Ventricular septal de... OMIM:619475
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula... ORPHA:404454
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Failure to thrive, Hyperthyroidism, Ventricular ... ORPHA:567
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, Hypogonadism OMIM:614231
Man1B1-Cdg
Truncal obesity ORPHA:397941
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidis... ORPHA:1772
Desbuquois Dysplasia 1
Obesity OMIM:251450
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Cardiac conduction abnormality, Abnormality of Krebs cycle metab... ORPHA:255210
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Hypogonadism, Obesity, Cachexia ORPHA:85293
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... ORPHA:478
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hyponatremia, Decreased response to growth hormone stimulation tes... ORPHA:293987
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly, Disproportionate tall stature, Abnormal thymus morphology, Tall ... ORPHA:2463
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Transient ischemic attack, Congesti... ORPHA:1830
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... ORPHA:444077
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Heart murmur, Mit... OMIM:615873
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Cryptorchidism, Obesity, Atrial septal defect, Aortic valve stenosis ORPHA:96121
White-Sutton Syndrome
Obesity, Abnormal heart morphology ORPHA:468678
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc... ORPHA:365
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Hepatic failure OMIM:608013
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... OMIM:222700
Wagro Syndrome
Decreased testicular size, Hypertension, Obesity OMIM:612469
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Williams-Beuren Syndrome
Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Portal hypertension, Ventricular septal ... OMIM:194050
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Patent foramen ovale, Obesity, Heart murmur OMIM:618653
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Abnormality of the pineal gland, Obesity, Mitral valve prolapse, ... ORPHA:369950
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Cryptorchidism, Obesi... OMIM:139210
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Truncal obesity, Precocious puberty ORPHA:2637
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis, Decreased testicular size OMIM:619321
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Decreased response to growth horm... OMIM:619503
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... OMIM:620306
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Small for gestational age, Secundum atrial septal defect, Cryptorchidism, H... OMIM:264090
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Angelman Syndrome
Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Angelman Syndrome
Obesity OMIM:105830
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Achondroplasia
Obesity ORPHA:15
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Type I diabetes mellitus OMIM:619269
Kabuki Syndrome
Precocious puberty, Cryptorchidism, Obesity, Abnormal cardiac septum morphology, Failure to thrive ORPHA:2322
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly ORPHA:158687
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... ORPHA:353281
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomega... OMIM:252500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Type II diabetes mellitus OMIM:210720
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Obesity ORPHA:2822
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Hepatic failure OMIM:301072
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Decreased response to growth hormone stimula... ORPHA:529962
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Fucosidosis
Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly OMIM:230000
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... ORPHA:95430
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenom... ORPHA:51
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Small for gestational age, Premature thelarche, Bila... OMIM:180849
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypothyroidism, C... OMIM:607872
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Severe failure to thrive, Cholelit... ORPHA:97297
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Obesity OMIM:616078
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... ORPHA:353277
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Cryptorc... OMIM:614976
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... ORPHA:581
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Obesity, D... OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Truncal obesity,... OMIM:612474
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Adrenal calcification, Transient ischemic ... ORPHA:51608
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... OMIM:235400
Retinitis Pigmentosa 74
Obesity OMIM:616562
Adnp Syndrome
Truncal obesity, Cryptorchidism ORPHA:404448
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hyperlipidemia, Hydrocele testis, Hypertension, Hypoalbuminemia ORPHA:567546
Witteveen-Kolk Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral cryp... OMIM:613406
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Cardiomyopath... ORPHA:3472
Cornelia De Lange Syndrome
Ventricular septal defect, Cryptorchidism, Truncal obesity, Delayed puberty, Atrial septal defect... ORPHA:199
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Pseudohypoparathyroidism OMIM:617157
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis, Cryptorchidism ORPHA:93271
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Monosomy 22Q13.3
Obesity ORPHA:48652
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Decreased testicular size, Cryptorchidism, Hypogonadism, Obesity OMIM:309580
Pallister-Killian Syndrome
Ventricular septal defect, Cryptorchidism, Obesity, Aortic valve stenosis, Atrial septal defect, ... OMIM:601803

Histopathology

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

There is no histopathology data for Ptcd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptcd1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mitochondrial gene expression is required for platelet function and blood clotting. Cell reports (October 2023) Ptcd1tm1(KOMP)Vlcg 37889747
Adult-onset obesity is triggered by impaired mitochondrial gene expression. Science advances (August 2017) Ptcd1tm1(KOMP)Vlcg PMC5559209

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ptcd1tm99144(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptcd1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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