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Gene: Evl MGI:1194884

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Gene Summary

Name:
Ena-vasodilator stimulated phosphoprotein
Synonyms:
b2b2600Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Evltm1b(KOMP)Wtsi HOM Early adult 3.52×10-06
thrombocytosis Evltm1b(KOMP)Wtsi HOM Early adult 4.52×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 50% (1 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 50% (1 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 50% (1 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 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 50% (1 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 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 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 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 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 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

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

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

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

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

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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Adult LacZ

LacZ Images Wholemount

11 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Evl 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 Evl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Thrombocythemia 2
Thrombocytosis OMIM:601977
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... OMIM:231060
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... ORPHA:86841
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... OMIM:208530
Scimitar Syndrome
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... ORPHA:185
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... OMIM:617780
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly OMIM:604416
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level ORPHA:2056
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly OMIM:209950
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:618858
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... ORPHA:824
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Varicose veins, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615996
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia OMIM:606176
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus art... OMIM:616276
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... OMIM:306955
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Heme Oxygenase 1 Deficiency
Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis OMIM:614034
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Primary Ciliary Dyskinesia
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... ORPHA:244
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular sep... ORPHA:1166
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot OMIM:613630
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Thrombocytosis, Leukocytosis ORPHA:134
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Arteria lusoria, Patent ductus ar... ORPHA:99050
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot ORPHA:2184
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618330
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Anemia, Thrombocytosis OMIM:226300
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Thrombocytosis, Lymphopenia OMIM:615934
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... ORPHA:3092
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
Cardiomyopathy, Dilated, 2D
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... OMIM:619371
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... ORPHA:2326
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Nonketotic hypoglycemia, Recurrent hypoglycemia, Thrombocytosis, Leukocytosis ORPHA:20
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiplex congenita, Pul... OMIM:301056
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... ORPHA:99886
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Type I diabetes mellitus, Thrombocytosis, Macrocytic anemia OMIM:212750
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618974
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Poems Syndrome
Thrombocytosis, Diabetes mellitus, Polycythemia ORPHA:2905
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... OMIM:607598
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Per... OMIM:617478
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Stroke, Cardiomyopathy OMIM:249270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Ventricular septal defect, Atrial septal defect ORPHA:49827
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... OMIM:601927
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Ventricular septal defec... ORPHA:99125
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Cardiac Valvular Dysplasia 1
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... OMIM:212093
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thro... OMIM:615688
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Hepatocellular Carcinoma
Anemia, Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Thrombocytopenia ORPHA:88673
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... OMIM:615355
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Woods Syndrome
Ventricular septal defect OMIM:615236
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... ORPHA:163956
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:301043
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618142
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... OMIM:618223
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... OMIM:601186
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardia, Complete atr... OMIM:264480
Familial Renal Glucosuria
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect OMIM:613730
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... OMIM:301074
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:300963
Congenital Gerbode Defect
Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembranous ventricula... ORPHA:99095
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Atrial septal defect OMIM:610205
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia OMIM:619995
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect OMIM:263630
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Prune Belly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Aplasia of the abdomin... ORPHA:2970
Giant Cell Arteritis
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... ORPHA:397
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Secundum atrial s... OMIM:249420
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal defect, Type... OMIM:619542
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... ORPHA:3260
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Ventricular septal defect ORPHA:254534
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Ventricular septal defect OMIM:219730
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Congenital Rubella Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect ORPHA:290
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Skeleta... OMIM:603387
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... OMIM:606519
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly OMIM:222470
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... ORPHA:552
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist... OMIM:121050
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Filippi Syndrome
Ventricular septal defect OMIM:272440
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Ventricular septal defect, Atrial septal defect OMIM:618067
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum atrial sept... ORPHA:1329
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal coronary arte... ORPHA:488618
Brachydactyly, Type B1
Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... OMIM:600460
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:301039
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch... ORPHA:2876
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Ventricular septal defec... ORPHA:363705
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect ORPHA:75389
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:619769
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Ventricular septal defect, Secundum atrial septal defect, Small hypothe... OMIM:612562
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abno... OMIM:618494
Aminopterin/Methotrexate Embryofetopathy
Pulmonary artery atresia, Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries, Persistent left... OMIM:314390
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis ORPHA:85202
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... ORPHA:7
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect, Facial palsy OMIM:147770
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Ventricular septal defect, Elbow contracture, Contracture of the proxim... OMIM:617201
Pentalogy Of Cantrell
Abnormal pericardium morphology, Ventricular septal defect, Atrial septal defect, Congenital diap... ORPHA:1335
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Ventricular septal defect, Patent forame... OMIM:615474
Burn-Mckeown Syndrome
Hypomimic face, Ventricular septal defect, Atrial septal defect OMIM:608572
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
Atrioventricular septal defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Transposition of the great arteries, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:617877
Thoracoabdominal Syndrome
Transposition of the great arteries, Congenital diaphragmatic hernia, Ectopia cordis, Patent duct... OMIM:313850
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Brucellosis
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly ORPHA:1304
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Transposition of the great arteries, Ventri... ORPHA:1780
Sifrim-Hitz-Weiss Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:606003
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... OMIM:300166
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou... ORPHA:2331
Acrocardiofacial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial s... ORPHA:2008
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morph... ORPHA:980
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Torticollis, Atrial sept... OMIM:609029
Braddock-Carey Syndrome 1
Aortic valve prolapse, Camptodactyly, Ventricular septal defect OMIM:619980
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... OMIM:618748
Cat Eye Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:115470
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:1488
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Kagami-Ogata Syndrome
Patent ductus arteriosus, Diastasis recti, Flexion contracture, Ventricular septal defect, Atrial... OMIM:608149
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618870
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Torticollis, Macroglos... OMIM:617022
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... OMIM:605275
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia OMIM:169400
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... OMIM:253800
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:618950
Noonan Syndrome 10
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... OMIM:616564
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect ORPHA:2519
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:613404
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... ORPHA:2255
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:612582
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita, Atrial septa... OMIM:208085
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Contracture of th... OMIM:619472
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Patent ductus arteriosus, Ventricular septal defect, Atrial septal defe... ORPHA:435638
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Congenital Tracheomalacia
Patent ductus arteriosus, Ventricular septal defect, Single ventricle, Atrial septal defect, Doub... ORPHA:95430
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... OMIM:201000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... OMIM:265380
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect OMIM:611134
Holt-Oram Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aplasia of the pectoralis major muscle, Secu... OMIM:142900
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial s... OMIM:616777
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect, Limb hypertonia OMIM:616920
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:614961
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Insulin-Resistance Syndrome Type B
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli... ORPHA:2298
Mckusick-Kaufman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... ORPHA:2473
Orotic Aciduria
Ventricular septal defect, Atrial septal defect OMIM:258900
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Recombinant 8 Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Ventricular septal defect, Atrial septal defec... ORPHA:96167
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Camptodactyly, Ventricular septal defect OMIM:619123
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Aorti... ORPHA:96147
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:220500
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Ventricular septal defect OMIM:153400
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:615879
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies