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Gene: Psme4 MGI:2143994

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
proteasome (prosome, macropain) activator subunit 4
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Psme4 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 Psme4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... ORPHA:1208
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... OMIM:613759
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia, Atrioventricu... OMIM:314390
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni... OMIM:270100
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... ORPHA:1666
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Abnormal aortic morpholog... ORPHA:1926
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... OMIM:115197
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Patent ductus arteriosus, Anterior hypopituitarism, Dextrocardia ORPHA:2863
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessel... OMIM:601186
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Birk-Aharoni Syndrome
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, P... OMIM:600001
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... ORPHA:2255
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery... ORPHA:2326
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
8P23.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,... ORPHA:251071
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va... OMIM:618316
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:179613
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Unilatera... OMIM:192430
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... ORPHA:3304
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pulm... ORPHA:2257
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... ORPHA:363444
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Poland Syndrome
Dextrocardia OMIM:173800
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Incr... ORPHA:84064
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
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
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventricular canal defe... OMIM:264480
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... OMIM:613686
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... OMIM:617022
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscul... ORPHA:66634
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... ORPHA:90308
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Carpenter Syndrome 1
Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Transpos... OMIM:201000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aorta, Atrioventricular canal ... OMIM:618929
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di... ORPHA:1667
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa... ORPHA:371428
Bardet-Biedl Syndrome 17
Situs inversus totalis, Hypogonadism, Dextrocardia OMIM:615994
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... OMIM:614294
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Asplenia, Cryptorchidis... ORPHA:99776
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Decreased serum insulin-like gro... ORPHA:79324
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:612561
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... OMIM:609942
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... OMIM:214110
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o... ORPHA:96092
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Johanson-Blizzard Syndrome
Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum morphology,... ORPHA:2315
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Leukopeni... OMIM:301056
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Breast aplasia, Tricuspid valve prolapse ORPHA:276413
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Floating-Harbor Syndrome
Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Atrial septal defe... ORPHA:2044
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot OMIM:613630
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Multiple muscular ventricular septal defects, R... OMIM:615508
Floating-Harbor Syndrome
Cryptorchidism, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left superior ... OMIM:136140
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... OMIM:611878
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:284979
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Renpenning Syndrome
Heterotaxy, Diabetes mellitus, Decreased testicular size ORPHA:3242
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypo... OMIM:613177
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... ORPHA:2847
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Hypothyroidism OMIM:618569
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Marden-Walker Syndrome
Cryptorchidism, Pulmonary hypoplasia, Dextrocardia OMIM:248700
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, Polysplenia OMIM:612776
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:280000
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Leukocytosis, H... ORPHA:2331
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Czeizel-Losonci Syndrome
Hypoplastic nipples, Pulmonary hypoplasia, Dextrocardia ORPHA:2437
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:606003
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... ORPHA:436252
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurr... ORPHA:397
Diets-Jongmans Syndrome
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... OMIM:618846
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Ad... ORPHA:7
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Alg3-Cdg
Abnormality of the endocrine system, Coarctation of the descending aortic arch, Cardiomyopathy, P... ORPHA:79321
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... ORPHA:567
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Cryptorchidism, ... OMIM:620305
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri... ORPHA:3474
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... ORPHA:163956
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... OMIM:214800
Mosaic Trisomy 20
Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... ORPHA:1724
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti... ORPHA:1923
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertensi... OMIM:619503
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Dextrocardia ORPHA:1571
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Dextrocardia ORPHA:220493
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... OMIM:612474
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m... ORPHA:485405
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... OMIM:115470
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Ebstein anomaly of the tricuspid valve OMIM:608980
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:616481
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Marfan Syndrome
Bicuspid aortic valve, Emphysema, Mitral annular calcification, Pneumothorax, Mitral valve prolap... OMIM:154700
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ao... OMIM:300166
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Double outle... ORPHA:1596
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneum... OMIM:230900
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... ORPHA:466791
Restrictive Dermopathy
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Congenit... ORPHA:1662
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta OMIM:616145
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Coarctation of aor... OMIM:210710
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cryptorchidism, Patent duct... OMIM:614976
Fryns Syndrome
Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aor... ORPHA:2059
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Marden-Walker Syndrome
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... ORPHA:2461
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Hydrocele testis, P... ORPHA:314588
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... ORPHA:261311
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla... ORPHA:1335
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse ORPHA:261337
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis OMIM:614185
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect, Pineal cyst ORPHA:513456
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... ORPHA:1329
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Cryptorchid... ORPHA:3310
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracer... ORPHA:536545
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Premature thelarche, Bilateral cryptorchidism, Crypt... OMIM:180849
Congenital Tricuspid Stenosis
Carcinoid tumor, Tricuspid stenosis, Bacterial endocarditis ORPHA:95459
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, P... OMIM:607872
Turnpenny-Fry Syndrome
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv... OMIM:618371
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Tricuspid valve prolapse ORPHA:1101
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... ORPHA:906
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... ORPHA:2962
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Supernumerary nipple, Splenomegaly, Pate... OMIM:312870
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Neu-Laxova Syndrome 1
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Transposition of the great a... OMIM:256520
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro... ORPHA:100078
Proteus-Like Syndrome
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... ORPHA:2969
Vater/Vacterl Association
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... OMIM:192350
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Cr... ORPHA:353281
Melnick-Needles Syndrome
Recurrent respiratory infections, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... OMIM:617300
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coa... OMIM:617506
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis OMIM:244400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... OMIM:600460
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Pneumothorax, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect OMIM:601776
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocyt... OMIM:208900
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... ORPHA:730
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... ORPHA:287
Wrinkly Skin Syndrome
Cryptorchidism, Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... ORPHA:2556
Poland Syndrome
Diabetes mellitus, Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial... ORPHA:2911
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypoplasia, Absent gallbla... OMIM:617925
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid ste... ORPHA:100079
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrup... OMIM:300712
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Pagod Syndrome
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... ORPHA:991
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... ORPHA:141127
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Patent foramen ovale, Cryptorchidism, Ebst... ORPHA:506358
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc... ORPHA:163979
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Cr... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Cr... ORPHA:353277
Treacher-Collins Syndrome
Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th... ORPHA:861
Hamamy Syndrome
Hypoparathyroidism, Microcytic anemia, Complete atrioventricular canal defect, Cryptorchidism, Hy... OMIM:611174
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... ORPHA:217085
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Recurrent respiratory infections,... ORPHA:17
Constricting Bands, Congenital
Ectopia cordis, Abnormal lung lobation OMIM:217100
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Cryptorchidism, Breast aplasia... OMIM:617063
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Recurrent upp... ORPHA:217093
Geleophysic Dysplasia 1
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Leopard Syndrome 1
Delayed menarche, Complete atrioventricular canal defect, Cryptorchidism, Mitral valve prolapse, ... OMIM:151100
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pul... OMIM:164210
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ... ORPHA:250989
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... OMIM:610168
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal veno... ORPHA:1900
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... OMIM:146510
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Pneumonia, Secundum atrial septal defect... OMIM:264090
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he... ORPHA:83471
Limb Body Wall Complex
Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def... ORPHA:2369
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Pulmonary artery stenosi... ORPHA:96334
Robinow Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Pulmo... ORPHA:97360
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Patent foramen ovale, Con... OMIM:620186
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... OMIM:236680
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Thrombocytosis, Double outl... ORPHA:79500
Charge Syndrome
Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Ab... ORPHA:138
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... ORPHA:276280
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch OMIM:267000
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax OMIM:619036
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Supernumerary nipple, Cryptorchidism, Patent d... OMIM:235730
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744

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 Psme4

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 Psme4.

No publications found that use IMPC mice or data for Psme4.

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