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
increased circulating amylase level Daam1tm1b(EUCOMM)Hmgu HET Early adult 6.99×10-05
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

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

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 Lateral Orientation

1 Images

Adult LacZ

LacZ Images Wholemount

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Death in childhood, Ascites OMIM:256150
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arte... ORPHA:60041
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct... OMIM:618845
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Hydrops Fetalis
Polyhydramnios, Miscarriage, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericardia... ORPHA:1041
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ... OMIM:620294
Eng-Strom Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal defect, Abnormal car... ORPHA:1937
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Cyanosis ORPHA:2414
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Cyanosis, Abnormal a... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Oligo... OMIM:614702
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Vent... OMIM:115197
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Craniofaciofrontodigital Syndrome
Anomalous branches of internal carotid artery, Polyhydramnios, Dilatation of the cerebral artery,... ORPHA:363705
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defects, D... OMIM:620070
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Congenital hypertrophy of left ventricle... OMIM:239850
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Atrial s... ORPHA:1354
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, ... ORPHA:3426
Adams-Oliver Syndrome 4
Cutis marmorata, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Death in childhood, Left superior vena cava ... OMIM:613759
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat... OMIM:617478
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Glycogen Storage Disease Of Heart, Lethal Congenital
Peripheral edema, Pulmonary edema, Cyanosis, Cardiomyopathy, Ascites, Pleural effusion, Hypertrop... OMIM:261740
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran... ORPHA:3384
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate... OMIM:618316
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Pericardial effusion, Persistent left superior vena cava, Ventricula... OMIM:618775
Meckel Syndrome, Type 8
Pericardial effusion OMIM:613885
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Hypoxemia, Peripheral edema, Cyanosis ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pleural effusion, Abnormal pulmonary vein morphology, Pericardial effusion, Hypo... ORPHA:199241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu... ORPHA:98913
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial ... OMIM:620519
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardation, Ventricul... OMIM:616276
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Patent foramen ovale, Pericardial effusion, Exercise-induced rhab... ORPHA:26793
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
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
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Cyanosis, Dextrocardia, Hypoxemia, Secundum atrial septal defe... ORPHA:2257
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Hypoxemia, Ca... ORPHA:439
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Aortic Arch Interruption
Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao... ORPHA:2299
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Lymphedema, ... OMIM:235510
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Transposition of the great arteries, Common atrium, Diap... OMIM:608978
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Pericardial effus... ORPHA:292
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Upper limb muscle weakness, Acrocyanosis ORPHA:2901
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Muscular dystrophy, Abnormal myocardium morphology ORPHA:300751
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Pleural effusion, Ascites, Abnormal lymphatic vessel morphology, Gen... ORPHA:90362
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Absence Of The Pulmonary Artery
Pulmonary edema, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Patent f... ORPHA:980
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Death in childhood, Cardiomyopathy, Death in infan... OMIM:212065
Asbestos Intoxication
Hypoxemia, Myocardial fibrosis, Edema, Cyanosis, Cor pulmonale, Oxygen desaturation on exertion ORPHA:2302
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Alpha-Thalassemia
Hydrops fetalis, Jaundice, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Pulmonary artery atresia, Arthrogryposis multiplex congenita, Pulmonic stenosis, ... OMIM:301056
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita OMIM:617822
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Lambert Syndrome
Intrauterine growth retardation, Jaundice, Ventricular septal defect ORPHA:1296
Poems Syndrome
Pleural effusion, Ascites, Pericardial effusion, Acrocyanosis, Edema, Plethora ORPHA:2905
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:93552
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Myocardial sarcomeric disarray, Neonatal death, Increased Z-disc width, ... OMIM:619897
Aicardi-Goutieres Syndrome 9
Ascites, Pericarditis, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy,... OMIM:619487
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm... ORPHA:3427
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death, Death in infancy OMIM:613730
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... ORPHA:371428
Cardiac Valvular Dysplasia 2
Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B... OMIM:620067
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Q Fever
Myocarditis, Abnormal vascular morphology, Purpura, Abnormal heart valve morphology, Vasculitis, ... ORPHA:781
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Fetal Trimethadione Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Intrauterine growth retardation, Atrial... ORPHA:1913
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect ORPHA:3469
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular septal defect, Tetralogy... ORPHA:1166
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Congenital Fibrinogen Deficiency
Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising susceptibility, S... ORPHA:335
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Hypoxemia, Mitral stenosis, A... ORPHA:2847
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Death in infancy, Pericardial effusion, Anasarca OMIM:618183
Wolcott-Rallison Syndrome
Jaundice, Dehydration, Ascites, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal lymphatic vessel morphology, Pleural effusion, Pericardial effusion... ORPHA:464329
Hsd10 Disease, Infantile Type
Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot OMIM:618624
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Polyhydramnios, Ventricular septal defect OMIM:263630
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Palmoplantar cutis laxa, Pleural effusion, Hypertrophic... OMIM:615355
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak... OMIM:619542
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, Abnormal aortic morphology,... ORPHA:3405
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Acrocyanosis ORPHA:896
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Edema, Dilated cardi... OMIM:607598
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial se... OMIM:601927
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Abnormal aortic morphology, Truncus arteriosus, Ventricular sept... ORPHA:2516
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Mitral valve prolapse, Caro... ORPHA:536532
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Congenital Tracheomalacia
Cyanosis, Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphol... ORPHA:95430
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Breath-Holding Spells
Cyanosis OMIM:607578
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Knee flexion contracture, In... ORPHA:284417
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary stenosis, Aortic valve ... OMIM:618164
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Acrocyanosis ORPHA:1867
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Aortic valve stenosis, Pericardial effusion, Coarctat... OMIM:139210
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Pulmonary Arteriovenous Malformation
Ischemic stroke, Bacterial endocarditis, Pleural empyema, Transient ischemic attack, Hypoxemia, P... ORPHA:2038
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Down Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... OMIM:190685
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular septal defect... OMIM:126320
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Congenital Rubella Syndrome
Jaundice, Patent ductus arteriosus, Intrauterine growth retardation, Atrial septal defect, Ventri... ORPHA:290
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Necrotizing Enterocolitis
Edema, Abnormal heart morphology, Ascites, Cyanosis ORPHA:391673
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Aicardi-Goutieres Syndrome 7
Limb hypertonia, Vasculitis, Hypertrophic cardiomyopathy, Pericardial effusion, Urticaria, Edema,... OMIM:615846
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Mitral... ORPHA:163956
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Purpura, Myositis, Vasculitis, Transient ischemic attack, Hypertrophic cardiomyopath... ORPHA:183
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth retardation, Atrial sept... OMIM:618142
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, I... OMIM:613870
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Pericardial effusi... ORPHA:2136
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Coarctation of aorta, Intrauterine growth retardation... ORPHA:1923
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Ventricular septal defect OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Stroke ORPHA:49827
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy... ORPHA:1329
Adams-Oliver Syndrome 6
Cutis marmorata, Truncus arteriosus, Ventricular septal defect OMIM:616589
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Hydrops fetalis, Polyhydramnios, Stroke, Ventricular hypertrophy, Tra... ORPHA:51608
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect OMIM:249270
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Cardiomyopathy ORPHA:159
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Death in infancy OMIM:147800
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Cyanosis, Pulmona... ORPHA:141127
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ascites, Nonimmune hydrops fetalis, Patent ductus arteriosus, Intrauterine growth retardation, Ov... OMIM:617021
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery f... ORPHA:99104
Pontocerebellar Hypoplasia, Type 17
Limb hypertonia, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine growth ret... OMIM:619909
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Fucosidosis
Cardiomegaly, Decreased muscle mass, Vascular skin abnormality, Acrocyanosis ORPHA:349
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Pericardial effusion, Pericarditis, Patent ductus... ORPHA:1272
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Joubert Syndrome 18
Intrauterine growth retardation, Ventricular septal defect, Camptodactyly OMIM:614815
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Warsaw Breakage Syndrome
Intrauterine growth retardation, Ventricular septal defect, Tetralogy of Fallot, Cutis marmorata OMIM:613398
Chédiak-Higashi Syndrome
Jaundice, Cutaneous photosensitivity, Pleural effusion, Pericardial effusion, Edema, Bruising sus... ORPHA:167
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Patent foramen ovale, Dehydration, Death in infancy, Arthrogryposis multiplex congenita... OMIM:208085
Long-Olsen-Distelmaier Syndrome
Death in childhood, Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, Dilat... OMIM:620609
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Patent ductus arteriosus, Atrial ... ORPHA:2970
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Abnormal heart morphology, Diastasis recti ORPHA:254534
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Cyanosis, Right atrial enlargement, Left ventricular hypertrophy, Periph... ORPHA:99106
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Hypertrophic cardiomyopathy, Cutis marmorata, Patent ductus arteriosus, Intra... OMIM:612938
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Increased nuchal translucency, Patent ductus arteriosus, Atrial septal defe... OMIM:615668
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Flexion ... OMIM:616897
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Increased nuchal translucency, Coarctation of aorta, Abnormal heart morphol... OMIM:618494
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... OMIM:601005
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypop... ORPHA:1596
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Polyhydramnios, Frontalis muscle weakness, Distal amyotrophy, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Polyhydramnios, Frontalis muscle weakness, Distal amyotrophy, ... ORPHA:98914
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Contractu... OMIM:618223
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:330012
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral valve prolapse, Double... OMIM:249420
Tyshchenko Syndrome
Polyhydramnios, Pulmonic stenosis, Intrauterine growth retardation, Atrial septal defect, Ventric... OMIM:615102
Meckel Syndrome 14
Cyanosis, Oligohydramnios, Single ventricle, Increased nuchal translucency OMIM:619879
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:500159
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Intrauterine growth retarda... OMIM:606003
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pat... ORPHA:392
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overr... OMIM:617022
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion contracture, Ve... OMIM:617201
Eosinophilic Fasciitis
Edema, Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Roifman Syndrome
Intrauterine growth retardation, Noncompaction cardiomyopathy, Hip contracture, Ventricular septa... OMIM:616651
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Arthrogryposis multiplex congenita, Death in infancy, Right ventricular hypertrophy, Ve... OMIM:613404
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Ventricular septal defect, Increased nuchal translucency OMIM:617635
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Patent ductus ... OMIM:617751
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Diamond-Blackfan Anemia 7
Polyhydramnios, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Int... OMIM:612562
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Aortic root aneurysm, Elbow flexion contracture, Wrist flexion contract... OMIM:121050
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Misalignment of the pulmonary veins, Cyanosis, Death in infancy OMIM:265120
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Pulmonic stenosis, Aortic valve... OMIM:609029
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Intrauterine growth retar... ORPHA:2306
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Woods Syndrome
Ventricular septal defect OMIM:615236
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Hypoxemia, Cyanosis ORPHA:70587
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Death in infancy, Pulmonic st... ORPHA:7
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta,... ORPHA:2876
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, De... OMIM:252010
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Camptodactyly of finger, Coarctation of aorta, Mitral steno... ORPHA:2008
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Camptodactyly, Abnormal heart morphology, Arthrogryposis-like hand anomaly,... ORPHA:369891
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Intrauterine growth r... ORPHA:75389
Coffin-Siris Syndrome 7
Polyhydramnios, Patent foramen ovale, Bicuspid aortic valve, Ventricular septal defect, Oligohydr... OMIM:618027
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... ORPHA:210122
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Eisenmenger Syndrome
Atrioventricular canal defect, Cyanosis, Bacterial endocarditis, Stroke, Aortopulmonary window, A... ORPHA:97214
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect OMIM:608572
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy ORPHA:73224
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Oligohydramnios, Transposition of the great arteries, Muscular ventricular septal defect, Elbow f... OMIM:619503
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the... OMIM:265380
Tarp Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Cyanosis, Intraute... ORPHA:2886
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Death in childhood, Death in infancy OMIM:616901
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Increased nuchal translucency, Patent ductus arteriosus, ... OMIM:618870
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Intrauterine growth... OMIM:616777
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect, Flexion contracture ORPHA:79243
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:301039
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Death in infancy, Patent ductus arteriosus, Intrauterine growth retardation, Atria... OMIM:614576
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Noonan Syndrome 10
Patent ductus arteriosus, Palmoplantar cutis laxa, Pleural effusion, Hypertrophic cardiomyopathy,... OMIM:616564
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Verheij Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect OMIM:615583
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis ORPHA:538
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Pulmonary artery atresia, Tetralogy of Fallot, Intrauterine growth retard... ORPHA:1908
Atrial Septal Defect, Ostium Secundum Type
Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Ri... ORPHA:99103
Kawasaki Disease
Myocarditis, Jaundice, Abnormal heart valve morphology, Vasculitis, Ascending tubular aorta aneur... ORPHA:2331
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Flexion contrac... OMIM:617452
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Pulmonic stenosis, Flexion contracture, Patent ductus arteriosus... OMIM:608149
Dravet Syndrome
Cyanotic episode ORPHA:33069
Microphthalmia, Syndromic 2
Dextrocardia, Hypoplastic aortic arch, Contracture of the proximal interphalangeal joint of the 2... OMIM:300166
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Esophageal Atresia
Polyhydramnios, Cyanosis, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect ORPHA:1199