Gene Summary

Name:
dishevelled associated activator of morphogenesis 1
Synonyms:
1700066F09Rik,  2310028E21Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Daam1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased blood urea nitrogen level Daam1tm1b(EUCOMM)Hmgu HET Early adult 1.75×10-05
increased circulating amylase level Daam1tm1b(EUCOMM)Hmgu HET Early adult 6.99×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 50% (1 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote Ambiguous
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Daam1 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 Daam1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... ORPHA:1209
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Nephrosialidosis
Pericardial effusion, Ascites, Death in childhood, Bone-marrow foam cells OMIM:256150
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Death in infancy, Bicuspid aortic valve,... OMIM:618845
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Miscarriage, Pleural... ORPHA:1041
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... OMIM:231060
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, ... ORPHA:860
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Intrauter... ORPHA:1937
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Congenital Pulmonary Lymphangiectasia
Cyanosis, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis ORPHA:2414
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Hypoxemia, Abnormal tricuspid... ORPHA:555874
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Nemaline Myopathy 9
Polyhydramnios, Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Palmopla... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... OMIM:115197
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Scimitar Syndrome
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... ORPHA:185
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... OMIM:616749
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Death in infancy, Pericardial effusion, Aortic aneurysm, Atrial ... OMIM:620070
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology OMIM:608776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect, Tetralog... ORPHA:3304
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe... ORPHA:1354
Double Outlet Right Ventricle
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctati... ORPHA:3426
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Perching Syndrome
Cyanosis, Joint contracture, Camptodactyly OMIM:617055
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid... ORPHA:1461
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Cutis marmorata, Atrial septal defect, Ventricular septal defect OMIM:615297
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Truncus arteriosus, Ventricular septal defect, Death in infancy, Interrupted aortic arc... OMIM:617478
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted a... ORPHA:3384
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema, Pericardial effusion, Macroglossia, Pleural effusion, Hypertrophic car... OMIM:261740
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... OMIM:618775
Hypocomplementemic Urticarial Vasculitis
Angioedema, Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Abnormal he... ORPHA:36412
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... ORPHA:98913
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Atrioventricular canal defect, Subvalvular aortic stenosis, Polyhydramnios, Right atria... OMIM:306955
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aort... ORPHA:99050
Acute Interstitial Pneumonia
Cyanosis, Pericardial effusion, Hypoxemia, Pleural effusion, Peripheral edema ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Aortic Arch Interruption
Cyanosis, Double outlet right ventricle, Aortic valve atresia, Patent ductus arteriosus, Pedal ed... ORPHA:2299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pedal edema, Pulmonary edema, Pericardial effusion, Hypoxemia, Pleural effusion, Abnorm... ORPHA:199241
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation ORPHA:2515
Cardiac Valvular Dysplasia 1
Cyanosis, Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical ori... OMIM:212093
Meacham Syndrome
Aplasia of the left hemidiaphragm, Ventricular septal defect, Atrial septal defect, Aplasia of th... OMIM:608978
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Thyro... OMIM:235510
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Neonatal death, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Isolated Right Ventricular Hypoplasia
Cyanosis, Patent foramen ovale, Pedal edema, Hypoxemia, Atrial septal defect, Muscular ventricula... ORPHA:439
Primary Pulmonary Hypoplasia
Cyanosis, Secundum atrial septal defect, Hypoxemia, Dextrocardia, Abnormal pulmonary artery morph... ORPHA:2257
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... ORPHA:292
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Oligohydram... OMIM:617021
Absence Of The Pulmonary Artery
Cyanosis, Patent foramen ovale, Hypocapnia, Patent ductus arteriosus, Pedal edema, Truncus arteri... ORPHA:980
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Ascites, Abnormal lym... ORPHA:90362
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy ORPHA:300751
Primary Ciliary Dyskinesia
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... ORPHA:244
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Pericardial effusion, Death i... OMIM:212065
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiple... OMIM:301056
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Lambert Syndrome
Jaundice, Ventricular septal defect, Intrauterine growth retardation ORPHA:1296
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615996
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Edema, Ascites, Intrauterine gr... OMIM:619487
Gaucher Disease Type 1
Pedal edema, Pericardial effusion, Bruising susceptibility, Ascites, Abnormal myocardium morphology ORPHA:77259
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... OMIM:270100
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Myositis, Edema, Pleural effusion, Ascites ORPHA:93552
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Poems Syndrome
Pericardial effusion, Acrocyanosis, Pleural effusion, Edema, Ascites ORPHA:2905
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect, Death in infancy OMIM:613730
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Asbestos Intoxication
Cyanosis, Hypoxemia, Myocardial fibrosis, Oxygen desaturation on exertion, Edema, Cor pulmonale ORPHA:2302
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Cerebral hemorrhage, Myocardial sarcomeric disarray, Dilated cardiomyopathy, I... OMIM:619897
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Ano... ORPHA:2326
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Death in infancy OMIM:616277
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... OMIM:620067
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect ORPHA:3469
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Left ventricular hypertrophy, Bruising susceptibility, Right v... ORPHA:335
Q Fever
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Myocarditis, Abnorma... ORPHA:781
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Apnea, Central Sleep
Cyanosis OMIM:207720
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular sep... ORPHA:1166
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Wolcott-Rallison Syndrome
Double outlet right ventricle, Jaundice, Atrial septal defect, Dehydration, Ascites ORPHA:1667
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Transposition of the great ... ORPHA:1913
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... OMIM:208530
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow trac... ORPHA:216694
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Death in infancy, Pericardial effusion, Pleural effusion, Anasarca, Ascites OMIM:618183
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Kaposiform Lymphangiomatosis
Pericardial effusion, Epidural hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion,... ORPHA:464329
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Noonan Syndrome 8
Patent ductus arteriosus, Polyhydramnios, Palmoplantar cutis laxa, Ventricular septal defect, Lef... OMIM:615355
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Stillbirth OMIM:263630
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Breath-Holding Spells
Cyanosis OMIM:607578
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Hsd10 Disease, Infantile Type
Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... OMIM:607598
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618330
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... ORPHA:3405
Atrioventricular septal defect 3
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... OMIM:600309
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... ORPHA:3092
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Ventricular septal defect, Muscle fiber atrophy, Type... OMIM:619542
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Cyanotic episode, Limb joint contracture, Ankle flexion contracture, In... ORPHA:284417
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Bruis... ORPHA:536532
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Intrauterine growth retardation, Truncus arteriosus, Ventricular sept... ORPHA:2516
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Tracheomalacia
Cyanosis, Patent ductus arteriosus, Ventricular septal defect, Single ventricle, Atrial septal de... ORPHA:95430
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Waardenburg Syndrome Type 3
Camptodactyly of finger, Acrocyanosis, Atrial septal defect ORPHA:896
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation ORPHA:2772
Congenital Rubella Syndrome
Patent ductus arteriosus, Ventricular septal defect, Jaundice, Atrial septal defect, Intrauterine... ORPHA:290
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Double outlet right ventricle, Mitral atresia, Patent ductus arteriosus, Ventricular se... ORPHA:99125
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Gaucher Disease Type 3
Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Aortic valve calcificatio... ORPHA:77261
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atrial ... OMIM:139210
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... OMIM:126320
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618974
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology ORPHA:1867
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Bacterial endocarditis, Pleural empyema, Ischemic stroke, Transient isc... ORPHA:2038
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Aicardi-Goutieres Syndrome 7
Limb hypertonia, Pericardial effusion, Vasculitis, Oligohydramnios, Hypertrophic cardiomyopathy, ... OMIM:615846
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Intr... ORPHA:1923
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... ORPHA:163956
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Transient ischemic attack, Vasculitis, Acrocyanosi... ORPHA:183
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic right heart, Atrial septal defec... OMIM:618142
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Complete Atrioventricular Septal Defect
Cyanosis, Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum a... ORPHA:1329
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malform... ORPHA:2136
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Ventricular septal defect, Atrial septal defect ORPHA:49827
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Generalized Arterial Calcification Of Infancy
Cyanosis, Ventricular hypertrophy, Polyhydramnios, Hydrops fetalis, Arterial calcification, Abnor... ORPHA:51608
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Congenital Tracheal Stenosis
Cyanosis, Polyhydramnios, Patent ductus arteriosus, Anomalous origin of left pulmonary artery fro... ORPHA:141127
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy OMIM:249270
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Death in infancy, Jaundice, Atrial septal defect... OMIM:208085
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Adams-Oliver Syndrome 6
Cutis marmorata, Truncus arteriosus, Ventricular septal defect OMIM:616589
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Death in infancy OMIM:147800
Rare Circulatory System Disease
Cyanosis, Arterial calcification, Elbow flexion contracture, Abnormal systemic arterial morpholog... ORPHA:98028
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Cardiomyopathy ORPHA:159
Aymé-Gripp Syndrome
Patent ductus arteriosus, Pericardial effusion, Camptodactyly, Pericarditis, Congenital diaphragm... ORPHA:1272
Chédiak-Higashi Syndrome
Cutaneous photosensitivity, Pericardial effusion, Jaundice, Bruising susceptibility, Pleural effu... ORPHA:167
Filippi Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:272440
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Polyhydramnios, Dextrocardia, Persistent left superior vena cava, ... OMIM:314390
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... OMIM:601186
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Right ventricular dilatation, Unroofed coronary sinus, Transient ischemic attack, Anoma... ORPHA:99104
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Congenital Gerbode Defect
Pedal edema, Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembrano... ORPHA:99095
Prune Belly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Aplas... ORPHA:2970
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Cutis marmorata, Ventricular septal defect OMIM:613398
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata, Hypertrophic cardiomyopathy... OMIM:612938
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Congenital Myasthenic Syndrome
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnor... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnor... ORPHA:98914
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Fucosidosis
Vascular skin abnormality, Cardiomegaly, Decreased muscle mass, Acrocyanosis ORPHA:349
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia, Secundum atrial septal defe... OMIM:619909
Giant Cell Arteritis
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... ORPHA:397
Eosinophilic Fasciitis
Myositis, Edema, Muscular edema, Acrocyanosis ORPHA:3165
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Neonatal death, Misalignment of the pulmonary veins, Death in infancy OMIM:265120
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Intrauterine growth retardation OMIM:614815
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... OMIM:606003
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Pleural effusion... OMIM:616897
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Death in infancy, Jaundice, Arthrogryposis multiplex congenita, Right ... OMIM:613404
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Hydrops fetalis, Ventricular septal defect, Torti... OMIM:617022
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios ORPHA:139466
Tyshchenko Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation,... OMIM:615102
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... OMIM:618223
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Meckel Syndrome 14
Cyanosis, Single ventricle, Increased nuchal translucency, Oligohydramnios OMIM:619879
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Coarctati... OMIM:618494
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Intrauterine growth ret... OMIM:616651
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios ORPHA:254534
Lambotte Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:245552
Aicardi-Goutieres Syndrome 1
Petechiae, Vasculitis, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Cardiomyopathy OMIM:225750
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Pulmonary edema ORPHA:70587
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left ventricular hypertrophy, Pulmonary artery dilatation, Left atrial enlargement, Per... ORPHA:99106
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... OMIM:121050
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Kawasaki Disease
Palmoplantar erythema, Ascending tubular aorta aneurysm, Jaundice, Double outlet right ventricle ... ORPHA:2331
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... OMIM:617201
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death... ORPHA:7
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Torticollis, Atrial sept... OMIM:609029
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Secundum atrial septal defec... OMIM:612562
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth r... OMIM:617751
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect, Intrauterine growth retardation OMIM:617635
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:300963
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch... ORPHA:2876
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Nonimmune hydrops fetalis, Pulmonary artery dilata... OMIM:265380
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Woods Syndrome
Ventricular septal defect OMIM:615236
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Skeleta... OMIM:603387
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Death in infancy, Mitral ... ORPHA:2008
Restrictive Dermopathy 2
Cyanosis, Intrauterine growth retardation OMIM:619793
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Coffin-Siris Syndrome 7
Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Bicuspid aortic valve, Oligohydr... OMIM:618027
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine growth r... ORPHA:75389
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Eisenmenger Syndrome
Cyanosis, Atrioventricular canal defect, Patent ductus arteriosus, Bacterial endocarditis, Pedal ... ORPHA:97214
Brachydactyly, Type B1
Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect, Death in infancy ORPHA:452
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Abnormal coronary artery... OMIM:605275
Tarp Syndrome
Cyanosis, Atrial septal defect, Persistent left superior vena cava, Tetralogy of Fallot, Intraute... ORPHA:2886
Burn-Mckeown Syndrome
Hypomimic face, Ventricular septal defect, Atrial septal defect OMIM:608572
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Cerebral edema, Concentric hypertrophic cardiomyopathy, Death in infancy, Increased int... OMIM:252010
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Peau d'orange, Ventricular septal defect, Death in infancy, Atrial sept... OMIM:614576
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Ventricular septal defect, Death in infancy OMIM:616901
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect, Intrauterine growth retardation ORPHA:79243
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Noonan Syndrome 10
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... OMIM:616564
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia OMIM:619995
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema ORPHA:73224
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Seckel Syndrome 9
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Con... OMIM:616777
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Situs inversus totalis, Pulmonary artery atresia, Tetralogy of Fallot,... ORPHA:1908
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Ascending aorta hypoplasia, Re... OMIM:619503
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... ORPHA:369891
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Kagami-Ogata Syndrome
Patent ductus arteriosus, Polyhydramnios, Diastasis recti, Flexion contracture, Ventricular septa... OMIM:608149
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618870
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Acquired Methemoglobinemia
Cyanosis, Hypoxemia ORPHA:464453
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis ORPHA:538
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... OMIM:300166
Viss Syndrome
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... OMIM:619472
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:301039
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Ventricular septal defect, Atrial septal defect, Intrauterine growth retarda... OMIM:617452
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia OMIM:169400
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Facial palsy OMIM:147770
Braddock-Carey Syndrome 1
Aortic valve prolapse, Camptodactyly, Ventricular septal defect OMIM:619980
Cryptogenic Organizing Pneumonia
Cyanosis, Hypoxemia ORPHA:1302
Dravet Syndrome
Cyanotic episode ORPHA:33069
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Multiple joint contractu... ORPHA:96170
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Cooper-Jabs Syndrome