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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
increased circulating triglyceride level Rnf4em1(IMPC)Ccpcz HET Early adult 3.58×10-06
increased circulating total protein level Rnf4em1(IMPC)Ccpcz HET Early adult 1.45×10-05
abnormal embryo size Rnf4em1(IMPC)Ccpcz HOM E18.5 0.00
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
small testis Rnf4em1(IMPC)Ccpcz HET Early adult 0.00

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 Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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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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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
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Type II diabetes mellitus OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia ORPHA:436182
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyp... ORPHA:90041
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation... OMIM:615238
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
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
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Primary amenorrhea, Hypocalcemia, Hypercholesterolemia OMIM:612526
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Cardiomyopathy, Dilated, 2H
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v... OMIM:620203
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Oligomenorrhea OMIM:613877
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... OMIM:610644
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... OMIM:616222
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:79085
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Micro... OMIM:617575
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated circulating c... ORPHA:435660
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hypercholeste... ORPHA:528
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Diabetes mellitus, Cryptorchidism OMIM:615381
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia OMIM:619013
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab... ORPHA:435651
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Abnormal fa... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, ... OMIM:235255
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... ORPHA:860
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormal vagina morphology, Abnormality of t... ORPHA:2315
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... OMIM:115197
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... OMIM:235200
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabe... ORPHA:79083
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypothyroidism, Hypoalbuminemia OMIM:226300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type II diab... OMIM:615812
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Dengue Fever
Hypoproteinemia ORPHA:99828
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Bile duct proliferation OMIM:613027
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus OMIM:619313
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries ORPHA:2348
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Leptospirosis
Hyperproteinemia ORPHA:509
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... ORPHA:209902
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Increased LDL c... ORPHA:412
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Omenn Syndrome
Hypoproteinemia, Hypoplasia of the thymus OMIM:603554
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Smith-Magenis Syndrome
Hypertriglyceridemia, Precocious puberty, Delayed puberty, Hypercholesterolemia, Hypothyroidism ORPHA:819
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... OMIM:278000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:79240
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Azoospermia, Hypogonadism, Delayed puberty, Micropenis, ... ORPHA:168569
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:264580
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... OMIM:615980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant diabetes mel... ORPHA:2457
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis OMIM:618624
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
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, ... ORPHA:79086
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertrophy, Insulin-... OMIM:151660
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycerolemia, Cryptorchidism, Adrenal insuf... OMIM:307030
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... OMIM:612561
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Increased circulating ferritin ... ORPHA:465508
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect OMIM:613870
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
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
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, D... ORPHA:280365
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Seckel Syndrome 10
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizin... OMIM:617253
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Fanconi-Bickel Syndrome
Diabetes mellitus, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentration OMIM:613327
Familial Chylomicronemia Syndrome
Hyperlipidemia, Diabetes mellitus, Increased circulating chylomicron concentration, Hypertriglyce... ORPHA:444490
Noonan Syndrome 8
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:615355
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Delayed puberty ORPHA:369
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... OMIM:619991
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fertility in fem... OMIM:269700
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Diabetes mellitus, Hypertriglyceridemia ORPHA:536532
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Irregular menstruation, Thyroiditis, Polycystic ovaries, Xa... ORPHA:79259
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
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
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension OMIM:615668
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... ORPHA:3464
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Atrial flutter, Overriding aorta, Ventricular septal defect OMIM:601927
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... ORPHA:210122
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Decreased fertility in females, ... OMIM:608594
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Primary adrenal insufficiency, Hyperka... ORPHA:275761
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ... OMIM:617021
Filippi Syndrome
Ventricular septal defect OMIM:272440
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia OMIM:300322
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypothyroidism ORPHA:254346
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... 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
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Pulmonary carcinoid tumor ORPHA:363618
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial ano... OMIM:608978
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Menorrhagia, Hyperuricemia ORPHA:35909
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Woods Syndrome
Ventricular septal defect OMIM:615236
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating creatine kinase concentration, Pine... ORPHA:98908
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:290
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:603387
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Atypical Werner Syndrome
Premature ovarian insufficiency, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating le... ORPHA:79474
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology OMIM:618494
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Primary amenorrhea OMIM:619418
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, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale OMIM:618870
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Isolated Klippel-Feil Syndrome
Ventricular septal defect ORPHA:2345
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... ORPHA:477817
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... OMIM:612582
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Telangiectasia OMIM:606003
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... OMIM:306955
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Donnai-Barrow Syndrome
Ventricular septal defect ORPHA:2143
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... OMIM:609029
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Prune Belly Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Neon... OMIM:601186
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration OMIM:619573
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... ORPHA:3097
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Kagami-Ogata Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:608149
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Double outlet right ventricle, Ventricular septal defect, Pul... OMIM:301056
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Aase-Smith Syndrome I
Ventricular septal defect OMIM:147800
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... OMIM:616564
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... OMIM:601808
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va... ORPHA:96170
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Trisomy 13
Atrial septal defect, Ventricular septal defect ORPHA:3378
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1926
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology ORPHA:254534
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... OMIM:270100
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increase... OMIM:264090
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hypoproteinemia, Rectocele ORPHA:2929
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Papillary thyroid carcinoma OMIM:118450
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Pelger-Huet Anomaly
Ventricular septal defect OMIM:169400
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect OMIM:614576
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Carpenter Syndrome 1
Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ... OMIM:201000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Codas Syndrome
Ventricular septal defect ORPHA:1458
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Cooper-Jabs Syndrome
Ventricular septal defect ORPHA:1488
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Gm1 Gangliosidosis
Cardiomyopathy, Ventricular septal defect, Congestive heart failure, Abnormal heart morphology ORPHA:354
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect ORPHA:3078
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-ac... ORPHA:567983
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Alagille Syndrome
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect ORPHA:52
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
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
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur ORPHA:166035
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228308
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Cat Eye Syndrome
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... OMIM:115470
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Char Syndrome
Ventricular septal defect ORPHA:46627
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... ORPHA:99125
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t... OMIM:600001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrial septal defect, Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:265380
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis OMIM:614114
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o... ORPHA:2008
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect OMIM:117550
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:457193
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:612562
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Delayed puberty ORPHA:90154
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Delayed puberty OMIM:232220
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Heart And Brain Malformation Syndrome
Ventricular septal defect OMIM:616920
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Kleefstra Syndrome
Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia ORPHA:261494
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232200
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Pentalogy Of Cantrell
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho... ORPHA:1335
Phaver Syndrome
Ventricular septal defect ORPHA:2876
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mgat2-Cdg
Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, Abnormal heart morphology ORPHA:79329
Trisomy 1Q
Ventricular septal defect ORPHA:261344
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Endocardial fibroelasto... ORPHA:99776
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati... OMIM:617506
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Neonatal death, Atrial septal defect, Ventricular septal defect, Coronary artery fistula OMIM:620024
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610443
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ventricular septal defect OMIM:309520
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610759
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect OMIM:616777
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Heart murmur, Mitral re... OMIM:614866
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Ventricular septal defect OMIM:300998
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent foramen ovale OMIM:620113
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect OMIM:612530
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244300
Lymphedema-Distichiasis Syndrome
Arrhythmia, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Breast aplasia ORPHA:90153
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Facial telangi... OMIM:602782
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect OMIM:617602
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453499
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect OMIM:243150
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Loeys-Dietz Syndrome 5
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation OMIM:615582
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect OMIM:235510
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect OMIM:300963
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Ogden Syndrome
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... OMIM:300855
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:464738
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect ORPHA:96167
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... OMIM:190685
Donnai-Barrow Syndrome
Ventricular septal defect OMIM:222448
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261236
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal heart morpholo... ORPHA:79328
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:130720
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... ORPHA:508498
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Chops Syndrome
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return OMIM:616368
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:608328
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Ventricular septal defect, Tricuspid regurgitation, Hypoplastic right heart OMIM:616894
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology... ORPHA:84064
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic regurgitation ORPHA:261330
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... ORPHA:163956
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:142900
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect OMIM:619229
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Fanconi Anemia, Complementation Group B
Ventricular septal defect OMIM:300514
Phelan-Mcdermid Syndrome
Ventricular septal defect OMIM:606232
C Syndrome
Ventricular septal defect OMIM:211750
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Short-Rib Thoracic Dysplasia 12
Neonatal death, Ventricular septal defect, Patent foramen ovale OMIM:269860
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect ORPHA:2710
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect ORPHA:3138
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Ventricular septal defect ORPHA:79345
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... OMIM:602535
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale OMIM:618454
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration ORPHA:565612
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Focal Dermal Hypoplasia
Telangiectasia of the skin, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:2092
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart ORPHA:2473
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty OMIM:232240
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect OMIM:214100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Heart murmur ORPHA:163979
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Mosaic Trisomy 1
Ventricular septal defect ORPHA:1692
Trichothiodystrophy
Cardiomyopathy, Ventricular septal defect ORPHA:33364
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244450
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect ORPHA:96121
Duane-Radial Ray Syndrome
Atrial septal defect, Ventricular septal defect OMIM:607323
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Tricuspid regurgi... OMIM:619534
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect OMIM:263520
Holoprosencephaly
Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology ORPHA:2162
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect ORPHA:464311
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis OMIM:614609
Pallister-Hall Syndrome
Neonatal death, Ventricular septal defect OMIM:146510
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:2745
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Diamond-Blackfan Anemia 10
Ventricular septal defect OMIM:613309
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo... ORPHA:1507
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect OMIM:611812
Trisomy 18
Atrial septal defect, Ventricular septal defect ORPHA:3380
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Abno... ORPHA:567
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect ORPHA:464306
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect OMIM:618268
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... ORPHA:97360
De Barsy Syndrome
Ventricular septal defect ORPHA:2962
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Conjunctival telangiectasia OMIM:257920
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect OMIM:619575
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... OMIM:139210
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub... OMIM:280000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Pulmonary arteria... ORPHA:444077
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:352665
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Mitral... OMIM:157800
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect OMIM:300712
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation OMIM:271640
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:1708
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Partial anomalous pulmonary venous r... OMIM:301068
Coffin-Siris Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology ORPHA:1465
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:147791
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect OMIM:300373
Diamond-Blackfan Anemia 1
Atrial septal defect, Congestive heart failure, Ventricular septal defect, Tricuspid stenosis OMIM:105650
Hajdu-Cheney Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Hypertension, Stillbirth, Atrial s... OMIM:210710
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Cardiomyopathy, Atrial sep... ORPHA:373
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:274000
Cornelia De Lange Syndrome 1
Ventricular septal defect OMIM:122470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart ORPHA:2308
Fanconi Anemia, Complementation Group C
Ventricular septal defect OMIM:227645
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Phace Association
Ventricular septal defect OMIM:606519
Arboleda-Tham Syndrome
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:616268
Mycophenolate Mofetil Embryopathy
Ventricular septal defect ORPHA:268249
Fryns Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:229850
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, Atrial septal de... OMIM:218040
Degcags Syndrome
Tachycardia, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Pulmonary arteri... OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353281
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Larsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:150250
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect ORPHA:818
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Zttk Syndrome
Atrial septal defect, Ventricular septal defect, Aortic regurgitation OMIM:617140
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop... OMIM:180849
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Hypertension, Atrial septal defect, Hypertrophic cardiomyopathy, Ventr... OMIM:270400
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, A... ORPHA:508488
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary arterial hypertension, Ventricular septal defect, Aortopulmonary window OMIM:620025
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... OMIM:300166
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect ORPHA:1199
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Neu-Laxova Syndrome 1
Ventricular septal defect, Stillbirth, Transposition of the great arteries, Neonatal death, Paten... OMIM:256520
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse ORPHA:500095
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect OMIM:154400
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly ORPHA:96191
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353277
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Hajdu-Cheney Syndrome
Ventricular septal defect OMIM:102500
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... OMIM:607872
Microphthalmia, Syndromic 3
Ventricular septal defect OMIM:206900
Diamond-Blackfan Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:124
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp... OMIM:194050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect ORPHA:3047
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Limb Body Wall Complex
Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology ORPHA:2369
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Ventricular s... ORPHA:96334
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventricular septal defec... OMIM:619503
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect ORPHA:459070
Noonan Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:163950
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect OMIM:117650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect OMIM:236680
Omodysplasia 1
Atrial septal defect, Ventricular septal defect OMIM:258315
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition... OMIM:312870
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Diets-Jongmans Syndrome
Ventricular septal defect OMIM:618846
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse... OMIM:619472
Charge Syndrome
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... OMIM:214800
Congenital Tracheal Stenosis
Ventricular septal defect, Hypoplastic left heart ORPHA:141127
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect OMIM:181450
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Coffin-Siris Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:135900
Wolf-Hirschhorn Syndrome
Atrial septal defect, Ventricular septal defect OMIM:194190
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect ORPHA:513456
Mowat-Wilson Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology OMIM:235730
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect OMIM:615948
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries OMIM:192350
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Pallister-Hall Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect ORPHA:672
Peters-Plus Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:147920
Digeorge Syndrome
Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect OMIM:619522
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Hyphema, A... ORPHA:261552
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect OMIM:606170
Sotos Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:821
Pallister-Killian Syndrome
Ventricular septal defect, Stillbirth, Aortic valve stenosis, Atrial septal defect, Hypertrophic ... OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect OMIM:164210

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 Rnf4

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 Rnf4.

No publications found that use IMPC mice or data for Rnf4.

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MGI Allele Allele Type Produced
Rnf4em1(IMPC)Ccpcz Exon Deletion Mice

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