Gene Summary

Name:
predicted gene 572
Synonyms:
LOC230909,  b2b1167Clo

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 Gm572tm1b(EUCOMM)Hmgu HET   Early adult 7.93×10-05
impaired pupillary reflex Gm572tm1b(EUCOMM)Hmgu HET Early adult 6.41×10-09
decreased circulating glucose level Gm572tm1b(EUCOMM)Hmgu HET Early adult 1.52×10-05
preweaning lethality, incomplete penetrance Gm572tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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 N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain 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)
Epididymis 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)
Heart 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)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine 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)
Submandibular gland N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

MicroCT E18.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

6 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Gm572 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 Gm572 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Ch... OMIM:615482
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia, Bronchiecta... OMIM:611884
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary dy... OMIM:615872
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:615481
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic br... OMIM:614874
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615504
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis... OMIM:613193
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to... OMIM:615505
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insu... OMIM:615500
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis, Ciliary d... OMIM:614679
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Abnorma... OMIM:613807
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Respiratory ... OMIM:616037
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... OMIM:605376
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Re... OMIM:615444
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory insu... OMIM:614935
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Ciliary... OMIM:616481
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiec... OMIM:606763
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Situs inversus totalis, Dextrocardia OMIM:619607
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci... OMIM:620197
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Respiratory... OMIM:608647
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... OMIM:620642
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, Polysplenia OMIM:612776
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia OMIM:612650
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia OMIM:617577
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... ORPHA:244
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Asplenia, B... OMIM:244400
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal heart mor... ORPHA:1666
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a... OMIM:249270
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ve... OMIM:619657
Ciliary Dyskinesia, Primary, 44
Heterotaxy, Bronchiectasis, Recurrent sinusitis OMIM:618781
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... OMIM:270100
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia OMIM:619436
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia OMIM:615294
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections, Bronch... OMIM:612649
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia OMIM:610852
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heterotaxy, Truncu... ORPHA:3426
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Retinitis Pigmentosa 6
Immotile cilia, Recurrent respiratory infections OMIM:312612
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent bronchitis, Recurrent si... OMIM:617091
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... OMIM:314390
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
3-Methylglutaconic Aciduria Type 1
Dystonia, Hypoglycemia ORPHA:67046
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, U... OMIM:613686
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Dextrocardia ORPHA:2863
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia OMIM:618067
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Accessory spleen, Bi... OMIM:618280
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Poland Syndrome
Dextrocardia OMIM:173800
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Recurrent respiratory infections, Ciliary dyskinesia ORPHA:1882
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Ellis Van Creveld Syndrome
Acute leukemia, Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs ... ORPHA:289
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Ciliary dyskinesia OMIM:242670
Stormorken Syndrome
Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, Anemia, Aspl... OMIM:185070
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Acute... ORPHA:1667
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Joubert Syndrome
Situs inversus totalis ORPHA:475
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... OMIM:614886
Mosaic Trisomy 9
Abnormal lung lobation, Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular ... ORPHA:99776
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:477817
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Megaloblastic anemia, Atrial septal defect, Neutropenia, Dextrocardia, Hepa... OMIM:277380
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Renpenning Syndrome
Heterotaxy ORPHA:3242
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... OMIM:614954
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Intracranial hemorrhage,... OMIM:617053
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, Dextrocardia, Anemia, Abno... ORPHA:2315
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Congenital hepatic fibrosis, Pancreatic fibrosis, Asple... ORPHA:564
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating hepatic transaminase concentration, Leukopenia, Ventricular septal defect, D... OMIM:301056
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Pul... OMIM:619123
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Abnormal card... OMIM:614294
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect ORPHA:96097
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia OMIM:618929
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Elevated circulating aspartate aminotransf... OMIM:614034
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia ORPHA:261197
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Pearson Syndrome
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... ORPHA:699
8P Inverted Duplication/Deletion Syndrome
Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia ORPHA:96092
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Marden-Walker Syndrome
Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... ORPHA:2461
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... ORPHA:1457
Giant Cell Arteritis
Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ventricle with subpulmonary v... ORPHA:397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... OMIM:616652
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Alagille Syndrome 2
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis... OMIM:610205
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... ORPHA:163956
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Joubert Syndrome With Ocular Defect
Dextrocardia ORPHA:220493
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect OMIM:309500
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Dextrocardia ORPHA:1571
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Kawasaki Disease
Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... ORPHA:2331
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, Double outlet right ventricle, Atrial septal d... OMIM:618223
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal... ORPHA:1329
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Dilated cardiomyopathy, Hepatic failure, Exocrine pan... OMIM:243800
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr... OMIM:280000
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect OMIM:618846
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreati... OMIM:600001
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... ORPHA:1335
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... ORPHA:980
Ring Chromosome 7 Syndrome
Situs inversus totalis ORPHA:1449
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... ORPHA:2255
Tetrasomy 9P
Pulmonary hypoplasia, Juxtaductal coarctation of the aorta, Absent gallbladder, Abnormal mitral v... ORPHA:3310
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Syndromic Diarrhea
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F... ORPHA:84064
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bicuspid aortic valve, Aortic aneurysm, Dextrocardia, Cerebral hemorrhage, A... ORPHA:536545
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Poland Syndrome
Acute leukemia, Abnormality of the liver, Atrial septal defect, Dextrocardia ORPHA:2911
Restrictive Dermopathy
Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... ORPHA:1662
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... OMIM:142900
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227990
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defe... OMIM:164280
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation OMIM:217100
Carpenter Syndrome 1
Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries,... OMIM:201000
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227982
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypopl... OMIM:617925
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Hepatosplenomegaly, I... OMIM:619503
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Ventricular septal defect, Meconium peritonitis, Atrial s... OMIM:617063
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Hamamy Syndrome
Microcytic anemia, Hypochromic anemia, Complete atrioventricular canal defect, Atrial septal defect OMIM:611174
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Charge Syndrome
Secundum atrial septal defect, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Lymphopenia... OMIM:214800
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Coarctation of aorta, V... OMIM:249000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Abnormal heart morphology, Atrioventricular canal defect, Exocrine pancre... ORPHA:508488
Limb Body Wall Complex
Abnormal heart morphology, Abnormality of the liver, Ventricular septal defect, Atrial septal def... ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... OMIM:151100
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular sep... OMIM:236680
Doors Syndrome
Thrombocytosis, Double outlet right ventricle, Aspiration pneumonia ORPHA:79500
Pseudoaminopterin Syndrome
Asplenia, Patent foramen ovale ORPHA:221120
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial... ORPHA:2044
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Atrial septal defect, Persistent left superior vena cava OMIM:136140
Chime Syndrome
Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transpos... ORPHA:3474
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Polysplenia, Rig... OMIM:312870
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonary valve m... ORPHA:261552
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... ORPHA:2152
Neu-Laxova Syndrome 1
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Patent duct... OMIM:256520
Vater/Vacterl Association
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... OMIM:192350

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gm572

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gm572.

No publications found that use IMPC mice or data for Gm572.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gm572tm47245(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gm572tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gm572tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Gm572tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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