Gene Summary

Name:
intraflagellar transport 74
Synonyms:
1700029H06Rik,  Ccdc2,  Cmg1,  b2b796Clo

IMPC Data Collections

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
limb grasping Ift74tm1b(EUCOMM)Hmgu HOM   Early adult 3.95×10-05

Download data as:  TSV  XLS

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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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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)
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)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 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%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
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)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
dorsal root ganglion 1.67% (1 of 60)
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)
fronto-nasal process 1.64% (1 of 61)
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)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
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.

Adult LacZ

LacZ Images Section

35 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

6 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Ift74 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.

The table below shows human diseases associated to Ift74 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bardet-Biedl Syndrome
ORPHA:110
Bardet-Biedl Syndrome 22
OMIM:617119
Spermatogenic Failure 58
OMIM:619585
Joubert Syndrome 40
OMIM:619582

The table below shows human diseases predicted to be associated to Ift74 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle,... OMIM:306955
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... OMIM:605376
Atrial Septal Defect 4
Coarctation of aorta, Patent foramen ovale, Atrial septal defect OMIM:611363
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Coarcta... ORPHA:3426
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Patent ductus art... OMIM:618164
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Bronchiectasis, Persistent left superior vena cava, Double outlet right... ORPHA:244
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... OMIM:613807
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... OMIM:179613
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ascending tubular aorta aneurysm, Ventricular septal defect, Abdominal situs invers... OMIM:270100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Double outl... ORPHA:477817
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Ventricular septal defect, Biventricula... ORPHA:860
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Monosomy 13Q34
Pulmonic stenosis, Common atrium ORPHA:96168
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Isomerism OMIM:314390
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Meacham Syndrome
Conotruncal defect, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Abnormal lung lob... ORPHA:3097
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot... OMIM:601005
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Pulmonary hypoplasia, Abnormal descen... ORPHA:99050
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary sequestration, Mitral stenosis, Paten... ORPHA:2847
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Tetralogy of Fallot, Patent ductus arteriosus, P... OMIM:239711
Congenital Total Pulmonary Venous Return Anomaly
Mitral atresia, Single ventricle, Patent ductus arteriosus, Supracardiac total anomalous pulmonar... ORPHA:99125
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Total anomalous pulmonary venous return, Abnormal heart morphology, Co... ORPHA:261183
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Lymphatic Malformation 7
Pulmonary edema, Varicose veins, Pericardial effusion, Atrial septal defect OMIM:617300
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:601450
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Fetal Trimethadione Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:1913
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Abnormal aortic v... ORPHA:1120
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Primum atrial septal defect, Pulmonary artery dilatation, Ventricular septal defect... OMIM:619534
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:619189
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Right aortic ... ORPHA:2326
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... OMIM:612561
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Coarctation ... ORPHA:2209
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus OMIM:613355
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Double outlet right ventric... ORPHA:2299
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Absence Of The Pulmonary Artery
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... ORPHA:980
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Renpenning Syndrome
Heterotaxy ORPHA:3242
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial septal defect, Venous insuf... ORPHA:90308
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Transaldolase Deficiency
Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect ORPHA:101028
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:614300
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... ORPHA:163956
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis OMIM:610205
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Dextrocardia
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... ORPHA:1666
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Ventricular septal defect, Pulmonary artery atresia, Pulmonic sten... OMIM:301056
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Coarctation of aorta, Rig... OMIM:601186
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilata... ORPHA:2041
Mental Retardation, Autosomal Dominant 21
Coarctation of aorta, Atrial septal defect, Patent ductus arteriosus OMIM:615502
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... ORPHA:397
Prune Belly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial sept... ORPHA:2970
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... OMIM:615355
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Abnormality of the pul... ORPHA:290
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
46,Xx Sex Reversal 5
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect OMIM:618901
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Patent foramen ovale, Patent ductus arteriosus OMIM:616867
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy OMIM:249270
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Coarctation of aorta, Atrial septal defect OMIM:600987
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:613870
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the pu... ORPHA:2306
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... OMIM:619371
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, At... OMIM:618280
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Transposition of the great arteries, Abnor... ORPHA:1926
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic l... OMIM:301043
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:600123
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:608406
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... ORPHA:210122
Diets-Jongmans Syndrome
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Heterotaxy OMIM:618846
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect, Patent ductu... ORPHA:1842
Tatton-Brown-Rahman Syndrome
Atrial septal defect OMIM:615879
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Gjc2-Related Late-Onset Primary Lymphedema
Varicose veins, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618142
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal def... ORPHA:488618
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Congenital Tricuspid Valve Dysplasia
Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve prolapse, Righ... ORPHA:555874
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Frank-Ter Haar Syndrome
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... OMIM:249420
Atrial Septal Defect 9
Secundum atrial septal defect OMIM:614475
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus ORPHA:2655
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:49827
Proteus Syndrome
Venous malformation OMIM:176920
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Megalencephaly
Atrial septal defect ORPHA:2477
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Mental Retardation, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Atrial septal defect ORPHA:352490
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... OMIM:609029
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Patent du... ORPHA:251071
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency ORPHA:745
Kawasaki Disease
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... ORPHA:2331
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect ORPHA:75389
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elevated ... OMIM:610978
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:300963
Pentalogy Of Cantrell
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Abnor... ORPHA:1335
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricuspid valve prola... OMIM:212093
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Varicose veins, Tetralogy of Fallot, Patent ductus arteriosus OMIM:153400
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... ORPHA:1329
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Mcdonough Syndrome
Ventricular septal defect, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis OMIM:248950
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Atrial septal defect OMIM:603387
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Stevenson-Carey Syndrome
Atrial septal defect, Left superior vena cava draining to coronary sinus OMIM:611961
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Varicose Veins
Varicose veins OMIM:192200
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect ORPHA:1035
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Mitral atresia, Coarctation of aorta, Mit... ORPHA:1596
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid val... OMIM:600001
Transaldolase Deficiency
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, ... OMIM:606003
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Atrial septal defect OMIM:614857
Primary Pulmonary Hypoplasia
Dextrocardia, Pneumothorax, Recurrent respiratory infections, Secundum atrial septal defect, Pulm... ORPHA:2257
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Coarctation of aorta, Car... ORPHA:363705
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Pulmonar... OMIM:617063
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology ORPHA:33276
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect OMIM:617159
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency ORPHA:743
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Pulmonic stenosis, Varicose veins, Atrial septal defect, Cor triatriatu... OMIM:612541
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Situs inversus totalis, Patent ductus arteriosus, Atrial septal de... OMIM:267010
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalignment of the ... OMIM:265380
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:313850
Trisomy 13
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Abnormal lung lobation ORPHA:3378
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Coarctation of aor... OMIM:616564
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
17Q12 Microduplication Syndrome
Atrial septal defect ORPHA:261272
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pul... OMIM:608149
Mental Retardation, Buenos Aires Type
Atrial septal defect OMIM:249630
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect OMIM:263630
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... OMIM:619472
Congenital Heart Defects And Skeletal Malformations Syndrome
Pneumothorax, Ventricular septal defect, Coarctation of aorta, Atrial septal defect OMIM:617602
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect OMIM:608572
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
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
Seckel Syndrome 9
Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Recurrent respirato... OMIM:616777
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Recurrent respiratory infe... OMIM:618950
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect OMIM:301039
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus OMIM:609625
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Atrial sept... ORPHA:2008
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect OMIM:617360
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Pulmonary valve atresia OMIM:301030
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:618870
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Patent ductus arteriosus, Secundum atrial septal defect, Pulmonary hypoplasia, Pa... OMIM:616866
Lujan-Fryns Syndrome
Atrial septal defect ORPHA:776
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect OMIM:611087
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... OMIM:612582
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Hypoplastic tr... ORPHA:2255
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus ORPHA:2519
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Abnormal c... OMIM:605275
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Tyshchenko Syndrome
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615102
Microphthalmia, Syndromic 2
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Pa... OMIM:300166
Mosaic Trisomy 16
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Patent ductus arterio... ORPHA:1708
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Perimembranous ventricular septal defect, Patent ductus arteriosus, At... ORPHA:363444
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... ORPHA:96170
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arte... OMIM:612562
Coffin-Siris Syndrome 6
Atrial septal defect OMIM:617808
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation ORPHA:624
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Recombinant 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... ORPHA:96167
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Patent ductus ar... OMIM:612863
Sotos Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:117550
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, A... OMIM:600460
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:208085
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Pulmonary hypoplasia, Tetralogy of Fallot OMIM:617925
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Bicuspid aortic valve, Descending thoracic aorta aneurysm, Mitral valv... OMIM:609192
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Atrial septal defect, Patent ductus arteriosus ORPHA:1790
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614576
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Transposition of the grea... OMIM:201000
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Descending thoracic aorta aneurysm, ... OMIM:610168
Chromosome 18Q Deletion Syndrome
Ventricular septal defect, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Patent duct... OMIM:601808
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:611553
Waardenburg Syndrome Type 3
Atrial septal defect ORPHA:896
Distal Tetrasomy 15Q
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia, ... ORPHA:314588
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Mitral valve prolapse, Abnormal venous morphology, Arterial dissection, Aortic... ORPHA:1900
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, H... ORPHA:2473
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Mitral stenosis, Atrial septal defect OMIM:617660
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Atrial septal defect, Vascular dilatation, Arterial stenosis, Recurrent... ORPHA:2637
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Atrial septal defect, Recurrent pneumonia, Abnormal cardiac septum mor... ORPHA:209905
Thakker-Donnai Syndrome
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot ORPHA:1780
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Recurrent bronchopulmonary infections, Patent ductus arteriosus, Atr... OMIM:617303
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... OMIM:614114
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus ORPHA:457193
Charge Syndrome
Ventricular septal defect, Dysplastic tricuspid valve, Double outlet right ventricle, Patent duct... OMIM:214800
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Ascending tubular aorta aneurysm, Atrial septal defect OMIM:309520
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Aortic root aneurysm, Pa... OMIM:121050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:270450
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect OMIM:614526
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Tetralogy of Fallot, Abnormal cardiac septum morphology... ORPHA:96147
Buratti-Harel Syndrome
Atrial septal defect, Recurrent pneumonia OMIM:619314
Lymphatic Malformation 6
Intestinal lymphangiectasia, Varicose veins, Atrial septal defect, Pleural effusion, Chylothorax OMIM:616843
Parkes Weber Syndrome
Arteriovenous fistula, Abnormal lymphatic vessel morphology, Spinal arteriovenous malformation, V... ORPHA:90307
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Abnormal jugular vein morphology, Right ventricular hypertrophy, Cardio... ORPHA:1677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Pulmonic stenosis, Transposition of the great arteries, Atrial septal def... OMIM:253800
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Abnormal lung lobation, Endocardial fibroelastosis, Pate... ORPHA:99776
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Thyroid lymphangiectasia, Intestinal lymphangiec... OMIM:235510
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:158170
Alazami Syndrome
Atrial septal defect ORPHA:319671
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Vascular dilatation, Pulmonary artery stenosis, Emphysema, Patent foramen o... OMIM:613177
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Atrial septal defect, Patent ductus arteriosus ORPHA:404443
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect ORPHA:485405
Enlarged Parietal Foramina
Venous malformation ORPHA:60015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Pneumonia, Atrial septal... ORPHA:26793
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Atrioventricular canal ... ORPHA:289
Kapur-Toriello Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:244300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Hyperphosphatasia With Mental Retardation Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Atrial septal defect, Hypoplastic aortic arch ORPHA:261311
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... OMIM:609942
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Recurrent respiratory infections, Atrial septal defect OMIM:619383
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Tetral... OMIM:100300
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:220500
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Al Kaissi Syndrome
Atrial septal defect OMIM:617694
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:397709
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia, Atrial septal defect, Patent ductus arteriosus OMIM:208540
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis OMIM:616028
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Mitral valve prolapse, Left superior vena cava draining to coronary si... OMIM:602782
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:610733
Alagille Syndrome
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:52
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect OMIM:617452
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse OMIM:605822
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Abnormal heart morphology, Atrial septal defect, Abnormal aortic valve morphology ORPHA:261197
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:261279
Kleefstra Syndrome 1
Conotruncal defect, Recurrent respiratory infections OMIM:610253
Noonan Syndrome 13
Atrial septal defect, Mitral valve prolapse OMIM:619087
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus OMIM:618162
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Peripheral pulmonary artery stenosis, Abnormal ... ORPHA:84064
Cardiac-Valvular Ehlers-Danlos Syndrome
Mitral valve prolapse, Aortic root aneurysm, Left ventricular hypertrophy, Atrial septal defect, ... ORPHA:230851
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary artery steno... ORPHA:79345
Fanconi Anemia, Complementation Group F
Pneumonia, Atrial septal defect, Patent ductus arteriosus OMIM:603467
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:505237
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Persistent left superior vena cava, Double outlet right ventricle, Mit... OMIM:619503
Oligomeganephronia
Pulmonary venous occlusion, Secundum atrial septal defect, Pulmonary hypoplasia ORPHA:2260
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:300998
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Persistent left superior vena cava, Coronary sinus enlargement, Atrial... OMIM:619268
Tarp Syndrome
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:2886
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:254346
Coffin-Siris Syndrome
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Recurrent upper r... ORPHA:1465
Fetal Alcohol Syndrome
Atrial septal defect ORPHA:1915
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:363528
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Overriding aorta OMIM:309801
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Atrioventricu... ORPHA:453499
Holt-Oram Syndrome
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect, Patent ductus a... OMIM:142900
Opitz Gbbb Syndrome
Ventricular septal defect, Recurrent aspiration pneumonia, Persistent left superior vena cava, Ao... ORPHA:2745
Clapo Syndrome
Varicose veins, Venous malformation ORPHA:168984
Short Stature, Facial Dysmorphism, And Skeletal Anomalies Wi