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Gene: Rnf4 MGI:1201691

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Gene Summary

Name:
ring finger protein 4
Synonyms:
Gtrgeo8

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rnf4em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal testis morphology Rnf4em1(IMPC)Ccpcz HET Early adult 0.00
no spontaneous movement Rnf4em1(IMPC)Ccpcz HOM E18.5 0.00
abnormal embryo size Rnf4em1(IMPC)Ccpcz HOM E18.5 0.00
increased circulating triglyceride level Rnf4em1(IMPC)Ccpcz HET Early adult 3.58×10-06
small testis Rnf4em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating total protein level Rnf4em1(IMPC)Ccpcz HET Early adult 1.45×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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FCS thumbnail FCS
MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Rnf4 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 Rnf4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Infertility, Hypertriglyceridemia, Azoospermia, Decrease... OMIM:615703
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... OMIM:614840
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... OMIM:615779
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus OMIM:610947
Kennedy Disease
Abnormal circulating lipid concentration, Testicular atrophy, Decreased fertility, Erectile dysfu... ORPHA:481
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Plin1-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Hypertriglyceridemia, Abnormal... ORPHA:280356
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... OMIM:607941
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Diabetes mellitus, Hyperproteinemia, Hypertrigl... ORPHA:90041
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin,... ORPHA:79085
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Irregular menstruation, Hypertriglyceridemia, Decreased serum leptin, ... OMIM:615238
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect OMIM:614474
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia, Hypothyroidism OMIM:256300
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, External genital hypoplasia, Ambiguous genitalia, Clitoral hypertrophy... OMIM:610644
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Hyperuricemia, Primary amenorrhea, Polycystic ovaries, Hyperin... OMIM:604367
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Lipe-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypertrig... ORPHA:435660
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Cholelithiasis OMIM:177000
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Adrenal calcification, Hypercholesterolemia ORPHA:75234
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Temple Syndrome
Decreased testicular size, Cryptorchidism, Hypertriglyceridemia, Maturity-onset diabetes of the y... OMIM:616222
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Delayed ... ORPHA:247585
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin,... ORPHA:435651
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Fixed Subaortic Stenosis
Systolic heart murmur, Mitral regurgitation, Pulmonic stenosis, Paroxysmal atrial fibrillation, V... ORPHA:3092
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypogonadism, Hypertriglyceridemia, Adrenal insufficiency, Hypothyroi... OMIM:617575
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Congenital Generalized Lipodystrophy
Oligomenorrhea, Hypercholesterolemia, Diabetes mellitus, Clitoral hypertrophy, Polycystic ovaries... ORPHA:528
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... OMIM:108900
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism OMIM:608093
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Tricuspid Atresia
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... ORPHA:1209
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Isolated Splenogonadal Fusion
Testicular mass, Elevated circulating alpha-fetoprotein concentration, Bilateral cryptorchidism, ... ORPHA:457083
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, Hypothyroidism OMIM:619013
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Male hypogonadism, Cryptorchidism, Hypertriglyceridemia OMIM:615381
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Prostate cancer, Hyperbilirubinemia, Hypertriglyceridemia, Elevated circulating C-reactive protei... ORPHA:158057
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Johanson-Blizzard Syndrome
Hypoproteinemia, Diabetes mellitus, Abnormality of the female genitalia, Hypoplasia of penis, Abn... ORPHA:2315
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Cryptorchidism, Micropenis, Vaginal atresia, Hypocalcemia, Abnormality of the ut... ORPHA:1655
Tangier Disease
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... OMIM:205400
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Vent... ORPHA:1354
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... OMIM:603553
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Maternal diabetes, Dysmenorrhea, Hyperuricemia, Primary amenorrhea, Diabetes mell... ORPHA:79083
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... OMIM:108800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Cryptorchidism, Micropenis, Thyroid lymphangiectasia, Hypocalcemia, Pancreatic l... OMIM:235255
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... OMIM:308700
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, Right atrial enlargement, Fi... OMIM:115197
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline OMIM:603471
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... ORPHA:439
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... OMIM:308750
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot,... OMIM:613854
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Hypothyroidism OMIM:226300
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, H... OMIM:618183
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Cholesterol gallstones, Hyperchole... ORPHA:209902
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Increased serum iron, Impotence, Increased ci... OMIM:235200
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Bile duct proliferation OMIM:613027
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Diabetes mellitus, Polycystic ovaries, Hypertriglyceridemia, Secondary amenorrhea ORPHA:2348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... ORPHA:49827
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect OMIM:614435
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Mitral regurgitation, Ventricular septal defect ORPHA:83473
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Adrenal insufficiency, ... ORPHA:261476
Dengue Fever
Hypoproteinemia ORPHA:99828
Alstrom Syndrome
Hyperuricemia, Multinodular goiter, Diabetes insipidus, Decreased response to growth hormone stim... OMIM:203800
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism OMIM:277700
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia OMIM:182290
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Leptospirosis
Hyperproteinemia ORPHA:509
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect OMIM:615524
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... OMIM:615947
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Oligomenorrhea, Delayed puberty, Dysmenorrhea, Polycystic ovaries, Elevated circulating creatine ... ORPHA:370
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL c... ORPHA:412
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614262
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia OMIM:603554
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Supravalvular aortic stenosis, Abnormal mitral valv... ORPHA:1461
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Oligomenorrhea, Dysmenorrhea, Polycystic ovaries, Elevated circulating creatine kinase concentrat... ORPHA:79240
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... ORPHA:99094
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Hypothyroidism, Hypercholesterolemia, Precocious puberty ORPHA:819
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Adrenal calcification, Hypertriglyceridemia... OMIM:278000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Delayed puberty, Dysmenorrhea, Polycystic ovaries, Elevated circulating creatine ... ORPHA:264580
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Bardet-Biedl Syndrome 19
Atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:615996
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Mandibuloacral Dysplasia
Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholest... ORPHA:2457
16P13.11 Microduplication Syndrome
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... ORPHA:261243
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98855
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
H Syndrome
Delayed puberty, Decreased testicular size, Micropenis, Hypogonadism, Diabetes mellitus, Hypertri... ORPHA:168569
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Hyperlipi... ORPHA:91
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Polycystic ovaries, Hyperinsulinemia, Hypertriglyceride... ORPHA:79086
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Lipodystrophy, Familial Partial, Type 2
Polycystic ovaries, Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholesterol concentrati... OMIM:151660
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Cardiac Diverticulum
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology, ... ORPHA:1686
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:98853
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy OMIM:249270
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Testicular atrophy, Diabetes mellitus, Infertility, Erectile dys... ORPHA:465508
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Diabetes mellitus, Polycystic ovaries, Hypertriglyceridemia, Decreased HDL choleste... ORPHA:280365
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Patent foramen ovale, C... OMIM:618652
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... OMIM:612561
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia, Adrenal insufficiency, Hyperglycerolemia, Adrenocortical hy... OMIM:307030
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia ORPHA:167
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... OMIM:613751
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:615279
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Seckel Syndrome 10
Diabetes mellitus, Elevated circulating follicle stimulating hormone level, Hypertriglyceridemia,... OMIM:617253
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Fanconi-Bickel Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Cardiac Valvular Dysplasia 1
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu... OMIM:212093
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... ORPHA:392
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Woodhouse-Sakati Syndrome
Decreased testicular size, Premature ovarian insufficiency, Micropenis, Diabetes mellitus, Hypopl... OMIM:241080
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility in females, Clitoral hypertrophy, Polycystic ovaries, Hyperinsulinemia, Decre... OMIM:269700
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Tetra... OMIM:220210
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperinsulinemia OMIM:613327
Familial Chylomicronemia Syndrome
Diabetes mellitus, Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concen... ORPHA:444490
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... OMIM:615474
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Hyperlipidemia ORPHA:369
Noonan Syndrome 8
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Left ve... OMIM:615355
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Mitral regurgitation, Ventricular septal defect, Atrial septal def... OMIM:620066
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double o... OMIM:179613
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... ORPHA:3464
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hyperuricemia, Polycystic ovaries, Menorrhagia, Irregular menstruation, Hyperlip... ORPHA:79259
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Liver Disease, Severe Congenital
Pancreatic hypoplasia, Hypoproteinemia, Hyperammonemia, Abnormal circulating thyroid hormone conc... OMIM:619991
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Diabetes mellitus, Clitoral hypertrophy, Polycystic ovaries, Hype... OMIM:608594
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Scimitar Syndrome
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Hear... ORPHA:185
Fetal Trimethadione Syndrome
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... ORPHA:1913
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Cryptorchidism, Hypertriglyceridemia ORPHA:536532
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertrophy,... ORPHA:284169
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Hypercalcemia, Precocious puberty ORPHA:369837
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Atrial flutter, Ventricular septal defect OMIM:601927
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Patent foramen ovale, Hypotension, Ventricular septal defect OMIM:615668
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... ORPHA:369929
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... ORPHA:3426
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Ventricular septal defect, Atrial septal d... ORPHA:363705
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abnormal libido, Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimula... ORPHA:189427
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal ... ORPHA:210122
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Lysosomal Acid Lipase Deficiency
Steatorrhea, Adrenal calcification, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma... ORPHA:275761
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, De... ORPHA:189439
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... OMIM:619702
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Ventricular septal defect, Hypertension, Second degree atriovent... OMIM:617021
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hyperlipidemia, Hypothyroidism, Hypospadias, Precocious puberty ORPHA:254346
Primary Lipodystrophy
Polycystic ovaries, Menometrorrhagia, Hyperlipidemia, Type II diabetes mellitus ORPHA:90970
Filippi Syndrome
Ventricular septal defect OMIM:272440
Methanol Poisoning
Hyperlipidemia, Type II diabetes mellitus, Type I diabetes mellitus ORPHA:31825
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:619343
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Atrial septal... ORPHA:99050
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect OMIM:618142
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventric... OMIM:618316
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular s... ORPHA:261183
Eisenmenger Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... ORPHA:97214
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Ventricular sept... OMIM:608978
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Tricuspid regurgitation OMIM:615879
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Pineal cyst, Abnormal circulating creatine kinase concen... ORPHA:98908
3C Syndrome
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Tetra... ORPHA:7
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect OMIM:620210
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:500159
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Increased LDL cholesterol concentration, Abnormal circulating lipid concentratio... ORPHA:77293
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Atypical Werner Syndrome
Neoplasm of the thyroid gland, Delayed puberty, Premature ovarian insufficiency, Hypogonadism, Di... ORPHA:79474
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Woods Syndrome
Ventricular septal defect OMIM:615236
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:614261
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Persistent fetal circulation, Hypertrophic cardi... OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:290
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect ORPHA:329224
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia, Menorrhagia ORPHA:35909
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect OMIM:618494
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Atrial septal defect, Secundum atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Pierson Syndrome
Hypoproteinemia OMIM:609049
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Atrial septal defect, Hypertension, Double outlet right ventricle, Bic... ORPHA:371428
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Primary amenorrhea OMIM:619418
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation OMIM:618870
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Unbalanced atri... OMIM:619657
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tric... OMIM:617478
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:369891
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Overriding aorta, Dou... ORPHA:477817
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... OMIM:157640
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia, Hydrocele testis ORPHA:567546
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... ORPHA:137675
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotransposition of the great arteries, V... OMIM:618619
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstruation... OMIM:256040
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Telangiectasia, Patent fora... OMIM:612582
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:606003
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Ventricular septal defect ORPHA:276432
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Heterotaxy, Visceral, 1, X-Linked
Single ventricle, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, ... OMIM:306955
Emanuel Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Truncu... OMIM:609029
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic left heart, Ventricular sep... ORPHA:1727
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Microphthalmia, Syndromic 9
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Neonatal... OMIM:601186
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect OMIM:614961
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Hypoplastic left heart, Atrial septal defect, Ventric... ORPHA:3097
Noonan Syndrome 4
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:610733
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Kagami-Ogata Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Pulmonic stenosis, Ventricular septal defect OMIM:608149
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Pulmonic stenosis, Ventricular... OMIM:301056
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Noonan Syndrome 10
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Left ve... OMIM:616564
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Chromosome 18Q Deletion Syndrome
Dysplastic pulmonary valve, Atrial septal defect, Ventricular septal defect, Dysplastic aortic va... OMIM:601808
Congenital Disorder Of Glycosylation, Type It
Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardiac death, Sudden ... OMIM:614921
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mit... OMIM:121050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Emanuel Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Truncu... ORPHA:96170
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Trisomy 13
Atrial septal defect, Ventricular septal defect ORPHA:3378
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect ORPHA:494344
Diabetic Embryopathy
Transposition of the great arteries, Tetralogy of Fallot, Ventricular septal defect ORPHA:1926
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hypoproteinemia, Rectocele ORPHA:2929
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect ORPHA:435638
Transketolase Deficiency
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:488618
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Double inlet left ventricle, Atrial reentry tachycardia, Atrial septal defect, Vent... OMIM:270100
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Increased serum testosterone level, Cryptorchidism, Hypertriglyceridemi... OMIM:264090
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Perimembranous ventricular septal defect, Ventricular septal ... OMIM:158170
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia, Papillary thyroid carcinoma OMIM:118450
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:612938
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect OMIM:614576
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia, Bil... ORPHA:567983
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Carpenter Syndrome 1
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transpos... OMIM:201000
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Codas Syndrome
Ventricular septal defect ORPHA:1458
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Wiedemann-Rautenstrauch Syndrome
Wide penis, Increased serum testosterone level, Cryptorchidism, Increased circulating prolactin c... ORPHA:3455
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Hypertension, Shortened PR interval, V... OMIM:614947
Gm1 Gangliosidosis
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Ventricular septal defect ORPHA:354
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Alagille Syndrome
Ventricular septal defect, Hypertension, Atrial septal defect, Telangiectasia of the skin ORPHA:52
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Noonan Syndrome 2
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect... OMIM:605275
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Ventricular septal defect ORPHA:166035
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Cutis Laxa, Autosomal Dominant 1