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 circulating amylase level Daam1tm1b(EUCOMM)Hmgu HET Early adult 7.25×10-05
increased blood urea nitrogen level Daam1tm1b(EUCOMM)Hmgu HET Early adult 1.72×10-05

Download data as:  TSV  XLS

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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

20 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Azotemia, Familial
Azotemia OMIM:109160
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites, Death in childhood OMIM:256150
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Death in infancy, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:618845
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Eng-Strom Syndrome
Ventricular septal defect, Intrauterine growth retardation, Abnormal cardiac septum morphology, C... ORPHA:1937
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Pericardial Effusion, Chronic
Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion, Flushing OMIM:260900
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hypoxemia, Ventricular septal defect, Abnormal aortic arch morphology, B... ORPHA:860
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Adams-Oliver Syndrome 4
Cutis marmorata, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Myopathy ORPHA:91130
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Myopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Ca... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, ... ORPHA:555874
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Jaundice OMIM:614876
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Varicose veins, Atrial sept... OMIM:617300
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Pulmonic stenosis, Cyanosis, Pleural effusion, Hydrops fetalis ORPHA:2414
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Palmoplantar cutis laxa, ... ORPHA:363705
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Pulmon... OMIM:220210
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... OMIM:179613
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Polyhydramni... ORPHA:1041
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Edema, Pericardial effusion, Ascites OMIM:608776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
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
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Ascites, Angioedema, Abnormal heart valve morphology, Small vessel vasculit... ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... ORPHA:98913
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pericardial effusion, Abnormal pulmonary vein morphology, Pulmonary edema, Cyanosis, P... ORPHA:199241
Acute Interstitial Pneumonia
Hypoxemia, Pericardial effusion, Cyanosis, Peripheral edema, Pleural effusion ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation ORPHA:2515
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Alkuraya-Kucinskas Syndrome
Edema, Arthrogryposis multiplex congenita, Pericardial effusion, Camptodactyly OMIM:617822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Ex... ORPHA:26793
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... OMIM:608978
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... OMIM:619313
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Thyro... OMIM:235510
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cardiomegaly, Cyanosis, Right atrial enlargement, Atrial septal defect, Muscular ventr... ORPHA:439
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy, Cyanosi... OMIM:261740
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Pleural effusio... ORPHA:292
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Muscular dystrophy, Abnormal myocardium morphology, Pericardial effusion ORPHA:300751
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Oligohydramnios, Intrauterine growth retardation, Patent ductus arteri... OMIM:617021
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Abnormal corona... ORPHA:980
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Jaundice ORPHA:1296
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Primary Pulmonary Hypoplasia
Dextrocardia, Hypoxemia, Abnormal hemidiaphragm morphology, Intrauterine growth retardation, Cyan... ORPHA:2257
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation, Camptodactyly OMIM:614815
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Pericarditis, Pericardial effusion, Ascites, Edema, Left ventric... OMIM:619487
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Arthro... OMIM:301056
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Edema, Intestinal lymphangie... ORPHA:90362
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Maternal Phenylketonuria
Ventricular septal defect, Intrauterine growth retardation, Double outlet right ventricle, Abnorm... ORPHA:2209
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Gaucher Disease Type 1
Pericardial effusion, Ascites, Pedal edema, Abnormal myocardium morphology, Bruising susceptibility ORPHA:77259
Asbestos Intoxication
Cor pulmonale, Hypoxemia, Edema, Cyanosis, Myocardial fibrosis, Oxygen desaturation on exertion ORPHA:2302
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Myositis, Edema, Pleural effusion ORPHA:93552
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Poems Syndrome
Pericardial effusion, Ascites, Edema, Acrocyanosis, Pleural effusion ORPHA:2905
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios ORPHA:3469
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Right aortic ... ORPHA:2326
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy... ORPHA:1166
Filippi Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:272440
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pericardial effusion, Granulomatous coronary arteritis, Vascular dilatation, Pleural effusion, Ja... OMIM:108050
Fetal Trimethadione Syndrome
Ventricular septal defect, Intrauterine growth retardation, Transposition of the great arteries, ... ORPHA:1913
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Pericardial effusion, Abnormal subcutaneous fat tissue distribution, C... OMIM:212065
Q Fever
Myocarditis, Abnormal vascular morphology, Pericarditis, Pericardial effusion, Endocarditis, Abno... ORPHA:781
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... OMIM:270100
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Hypoxemia, Abnormal heart morphology, Congenital diaphragmatic hernia, Apl... ORPHA:2847
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Apnea, Central Sleep
Cyanosis OMIM:207720
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Subcutaneous hemorrhage, Left ventricular hypertrophy, Cyanosis, B... ORPHA:335
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios OMIM:263630
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios OMIM:618624
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Patent ductus ar... OMIM:615355
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Death in infancy, Right ventricular hypertrophy, Arthrogryposis multip... OMIM:208085
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Wolcott-Rallison Syndrome
Ascites, Double outlet right ventricle, Atrial septal defect, Dehydration, Jaundice ORPHA:1667
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal renal art... ORPHA:79328
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Breath-Holding Spells
Cyanosis OMIM:607578
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Intrauterine growth re... ORPHA:2516
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... ORPHA:3405
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Kaposiform Lymphangiomatosis
Ecchymosis, Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Bruisin... ORPHA:464329
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Congenital Rubella Syndrome
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Atrial sept... ORPHA:290
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Cyanosis, Primum atrial septal defect, Inlet ventricular septal de... OMIM:600309
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardation ORPHA:2772
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:619189
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Promi... ORPHA:536532
King-Denborough Syndrome
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... OMIM:619542
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Abnormal heart valve morphology, Aortic valve c... ORPHA:77261
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohy... OMIM:601927
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... ORPHA:3092
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion OMIM:618183
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... ORPHA:99125
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... OMIM:612561
Myhre Syndrome
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Skeletal muscle... OMIM:139210
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect, Camptodactyly of finger ORPHA:896
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... OMIM:126320
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... OMIM:248950
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Cutis marmorata OMIM:602501
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... ORPHA:163956
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardation, Coarctati... ORPHA:1923
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Limb joint contracture, Intrauterine growth retardation, Knee flexion ... ORPHA:284417
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology ORPHA:1867
Adams-Oliver Syndrome 6
Ventricular septal defect, Cutis marmorata, Truncus arteriosus OMIM:616589
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Coarctation of aorta, O... OMIM:616145
Aase-Smith Syndrome I
Ventricular septal defect, Death in infancy, Flexion contracture OMIM:147800
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... ORPHA:95430
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Patent ductus a... OMIM:618142
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Intrauterine growth retar... OMIM:601186
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, Tetralogy of Fallot, Intrauterine growth retardation OMIM:613398
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Patent ductus a... OMIM:608406
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect, Intrauterine growth retardation OMIM:617164
Desbuquois Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... ORPHA:1425
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Contractures of the interphalangeal joint of the... OMIM:613870
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Myositis, Endocarditis, Acrocyanosis, Urticaria, Cutis ... ORPHA:183
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... ORPHA:1329
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ca... ORPHA:1272
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita, Jau... OMIM:613404
Congenital Tracheal Stenosis
Fetal ascites, Ventricular septal defect, Preductal coarctation of the aorta, Patent ductus arter... ORPHA:141127
Chédiak-Higashi Syndrome
Cutaneous photosensitivity, Pericardial effusion, Edema, Pleural effusion, Bruising susceptibilit... ORPHA:167
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Congenital diaphr... OMIM:609029
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Transaldolase Deficiency
Telangiectasia, Ventricular septal defect, Intrauterine growth retardation, Coarctation of aorta,... OMIM:606003
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Hennekam Syndrome
Pulmonary lymphangiectasia, Pericardial effusion, Ascites, Chylothorax, Camptodactyly of finger, ... ORPHA:2136
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Intrauterine growth retardation, Torticollis, Cardiomegaly, Oligohydra... OMIM:617022
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Cardiomyopathy ORPHA:159
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyt... OMIM:619371
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O... ORPHA:2970
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Atriove... ORPHA:251071
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... ORPHA:3097
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
Rare Circulatory System Disease
Abnormal systemic arterial morphology, Abnormal vascular morphology, Arterial tortuosity, Arteria... ORPHA:98028
Roifman Syndrome
Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy, Intrauterine growth ret... OMIM:616651
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Pulmonic stenosis ORPHA:139466
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Macroglo... OMIM:612938
Generalized Arterial Calcification Of Infancy
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... ORPHA:51608
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Intrauterine growth retardation, Atrioventricular canal defect, Atrial... OMIM:600123
Lambotte Syndrome
Ventricular septal defect, Intrauterine growth retardation OMIM:245552
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Eosinophilic Fasciitis
Acrocyanosis, Edema, Muscular edema, Myositis ORPHA:3165
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Diastasis recti, Polyhydramnios ORPHA:254534
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Polyhydramnios, Muscle fiber at... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Polyhydramnios, Muscle fiber at... ORPHA:98914
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hypoxemia, Pulmonary arteriovenous fistulas, Pleural empy... ORPHA:2038
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Tyshchenko Syndrome
Ventricular septal defect, Intrauterine growth retardation, Polyhydramnios, Pulmonic stenosis, At... OMIM:615102
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
3C Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Atrioventricular c... ORPHA:7
Fucosidosis
Acrocyanosis, Decreased muscle mass, Cardiomegaly, Vascular skin abnormality ORPHA:349
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contracture, Atri... OMIM:603387
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... ORPHA:397
Surfactant Metabolism Dysfunction, Pulmonary, 1
Misalignment of the pulmonary veins, Cyanosis, Death in infancy, Neonatal death OMIM:265120
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Frank-Ter Haar Syndrome
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... OMIM:249420
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect, Hypomimic face OMIM:608572
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Patent ductus arteriosus, Varicos... OMIM:153400
Diamond-Blackfan Anemia 7
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Polyhydramn... OMIM:612562
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Ascites,... OMIM:616897
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic l... OMIM:301043
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Cardiomyopathy, Acrocyanosis, Vasculitis, Purpura, Prolonged neonatal jaundice OMIM:225750
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Pulmonary edema ORPHA:70587
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Camptodactyly OMIM:300963
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... ORPHA:500159
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Pulmonary artery dilatation, Right ventricular dilatation, Left ventricu... ORPHA:99106
Acrocardiofacial Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Intrauterine growth retardation,... ORPHA:2008
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Intrauterine growth retardation, Congenital diaphragmatic hernia, Coar... OMIM:617602
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... OMIM:600001
Brachydactyly, Type B1
Ventricular septal defect, Joint contracture of the hand, Camptodactyly OMIM:113000
Phaver Syndrome
Ventricular septal defect, Intrauterine growth retardation, Coarctation of aorta, Camptodactyly o... ORPHA:2876
Woods Syndrome
Ventricular septal defect OMIM:615236
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Distal arthrogryposis, Mitral valve prolapse, H... OMIM:121050
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Intrauterine growth retardation, Mitral a... ORPHA:1596
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... ORPHA:210122
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:617360
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Anomalous origin of the left common carotid artery from the main pu... ORPHA:99104
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Atrioventricular... OMIM:605275
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine growth r... ORPHA:75389
Kawasaki Disease
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... ORPHA:2331
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Peau d'orange, Pate... OMIM:614576
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:613457
Seckel Syndrome 9
Ventricular septal defect, Intrauterine growth retardation, Congenital diaphragmatic hernia, Pulm... OMIM:616777
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Sk... OMIM:252010
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion ORPHA:73224
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Palmoplantar cutis... OMIM:616564
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Polyhydramnios, Diastasis... OMIM:608149
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy, Patent ductus arteriosus ORPHA:452
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Intrauterine growth retardation, Situs inversus totalis, Tetralogy of ... ORPHA:1908
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Intrauterine growth retardation, Polyhydramnios OMIM:243150
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Patent foramen ovale OMIM:616789
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Congenital diaphr... ORPHA:96170
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Tarp Syndrome
Intrauterine growth retardation, Persistent left superior vena cava, Cyanosis, Atrial septal defe... ORPHA:2886
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Facial palsy, Patent ductus arteriosus OMIM:147770
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Trisomy 13
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Atrial sept... ORPHA:3378
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Patent foramen... ORPHA:369891
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, ... OMIM:270450
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Intrauterine growth retardation, Flexion contracture ORPHA:79243
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Atrial septal... OMIM:618870
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia OMIM:169400
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:1488
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal def... ORPHA:488618
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Thakker-Donnai Syndrome
Ventricular septal defect, Intrauterine growth retardation, Congenital diaphragmatic hernia, Tran... ORPHA:1780
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... OMIM:619472
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Microphthalmia, Syndromic 2
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Co... OMIM:300166
Laryngotracheal Angioma
Cyanosis ORPHA:137935
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contracture, Pulmonic stenosis, ... ORPHA:435638
Eisenmenger Syndrome
Bacterial endocarditis, Ventricular septal defect, Hypoxemia, Ascites, Atrioventricular canal def... ORPHA:97214
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Transposition of the great arteries, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:617877
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... ORPHA:2255
Pentalogy Of Cantrell
Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect, Tetralogy of Fa... ORPHA:1335
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Pulmonary lymphangiomyomatosis, Chylothorax ORPHA:538
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:301039
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Mitral atresia, Subvalvular aortic stenosis, Elbow flexion contracture, Hypoplas... OMIM:619503
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Poly... ORPHA:3071
Gitelman Syndrome
Varicose veins, Rhabdomyolysis, Pericardial effusion ORPHA:358
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Flexion contrac... OMIM:617452
Crimean-Congo Hemorrhagic Fever
Myocarditis, Ecchymosis, Pericardial effusion, Ascites, Spontaneous hematomas, Purpura, Jaundice ORPHA:99827
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Hypoxemia, Ventricular septal defect, Atrial septal defect, Abnormal cardiac septum morphology, O... OMIM:610978
Kapur-Toriello Syndrome
Ventricular septal defect, Intrauterine growth retardation, Joint contracture of the hand, Patent... OMIM:244300
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Coarctation of aort... OMIM:300514
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Ventricular septal defect, Death in infancy, Ascites, Polyhydramnios,... OMIM:235255
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial... OMIM:610733
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Pleural effusion, Pericardial effusion OMIM:181000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs