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Gene: Dzip1 MGI:1914311

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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:
DAZ interacting protein 1
Synonyms:
2510025K24Rik,  2810422M04Rik

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 Dzip1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dzip1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840

The table below shows human diseases predicted to be associated to Dzip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
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 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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
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 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
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 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
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
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 17
Male infertility OMIM:617214
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... ORPHA:228410
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Mitral valve prolapse ORPHA:2233
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Mitral valve prolapse OMIM:616166
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Mitral valve prolapse ORPHA:2183
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Mass Syndrome
Mitral valve prolapse OMIM:604308
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Camurati-Engelmann Disease, Type 2
Mitral regurgitation, Mitral valve prolapse OMIM:606631
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... OMIM:612561
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Mitral valve prolapse ORPHA:230839
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... OMIM:193400
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Situs inversus totalis OMIM:609008
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Central Core Disease
Mitral valve prolapse ORPHA:597
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Classic Multiminicore Myopathy
Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular... ORPHA:324604
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Cap Myopathy
Reduced systolic function, Sinus tachycardia, Mitral valve prolapse ORPHA:171881
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Mitral regurgitation, Mitral valve prolapse ORPHA:2848
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... OMIM:614185
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Sandhoff Disease, Infantile Form
Mitral regurgitation, Mitral valve prolapse ORPHA:309155
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology ORPHA:1277
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:258450
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Costello Syndrome
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... ORPHA:3071
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Noonan Syndrome 13
Atrial septal defect, Cryptorchidism, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Mitral regurgi... OMIM:616564
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Mitral valve prolapse OMIM:236200
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Noonan Syndrome 14
Aortic regurgitation, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Mitral valve prolapse ORPHA:449291
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Von Willebrand Disease
Abnormal mitral valve morphology ORPHA:903
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... OMIM:609942
Fg Syndrome Type 1
Atrial septal defect, Cryptorchidism, Pulmonary arterial hypertension, Mitral valve prolapse ORPHA:93932
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Mitral valve prolapse OMIM:618874
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Pulmonary arterial hypertension, Tricuspid regurgitation, Mitral valve ... OMIM:620233
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Mitral valve prolapse OMIM:618000
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... ORPHA:284979
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Mitral valve prolapse, Hematochezia, Telangiectasia, Mitral regurgitation OMIM:175050
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse OMIM:614816
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Azoospermia, Pulmonic stenosis, F... OMIM:602782
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Mitral valve prolapse OMIM:616914
Cerebellofaciodental Syndrome
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
8P11.2 Deletion Syndrome
Atrial septal defect, Cryptorchidism, Azoospermia, Mitral valve prolapse ORPHA:251066
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Arterial rupture, Mitral valve prolapse ORPHA:1900
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Leopard Syndrome 1
Bundle branch block, Cryptorchidism, Complete atrioventricular canal defect, Mitral valve prolaps... OMIM:151100
Cohen Syndrome
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Shprintzen-Goldberg Syndrome
Cryptorchidism, Mitral regurgitation, Abnormal aortic valve morphology, Mitral valve prolapse ORPHA:2462
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Mitral valve prolapse ORPHA:730
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ventricular septal defect, Abnormal T-wave, Mitral valve prolapse ORPHA:444072
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cryptorchidism, Hypertension ORPHA:1192
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... OMIM:611962
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... ORPHA:2847
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Unilateral cryptorchidism, Dysplastic aortic valve OMIM:605822
Frontometaphyseal Dysplasia 1
Cor pulmonale, Mitral valve prolapse OMIM:305620
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Mitral valve prolapse OMIM:182212
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Cryptorchidism, Mitral valve prolapse ORPHA:536532
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, Abnormal aor... ORPHA:3099
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, R... OMIM:617402
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Mitral valve prolapse ORPHA:369950
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Mitral regurgitation, Abn... ORPHA:2556
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitat... OMIM:615873
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Mitral regu... OMIM:601776
Neurooculorenal Syndrome
Dextrocardia, Cryptorchidism, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis,... OMIM:620305
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mitral valve prolapse ORPHA:536467
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Double outlet right ventricle, Mitral va... OMIM:300166
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:609192
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Arrhythmia, Pulmonic stenosis, Atrial septal de... OMIM:218040
Marfan Syndrome
Congestive heart failure, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Turnpenny-Fry Syndrome
Aortic regurgitation, Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse OMIM:618371
Heterotaxy, Visceral, 1, X-Linked
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Co... OMIM:306955
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse ORPHA:500095
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Mitral valve prolapse, Perim... OMIM:180849
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Atypical Werner Syndrome
Telangiectasia of the skin, Congestive heart failure, Aortic valve calcification, Mitral valve pr... ORPHA:79474
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly OMIM:231005
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ... ORPHA:287
Osteogenesis Imperfecta
Aortic regurgitation, Mitral valve prolapse, Cerebral hemorrhage, Abnormal endocardium morphology ORPHA:666
Leopard Syndrome 3
Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal aortic valve morphology OMIM:613707
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal tricus... ORPHA:7
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp... OMIM:194050
Meester-Loeys Syndrome
Mitral valve prolapse OMIM:300989
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h... OMIM:618164
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Arterial ruptur... OMIM:130050
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Stickler Syndrome
Arrhythmia, Mitral valve prolapse ORPHA:828
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Cryptorchidism, Pulmonic stenosis ORPHA:1131
Loeys-Dietz Syndrome 2
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse OMIM:610168
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Subvalvular aortic stenosis OMIM:619461
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... ORPHA:99125
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse... OMIM:619472
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Pulmonic stenosis, At... OMIM:605275
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, Corona... OMIM:618280
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology ORPHA:1876
Acrocardiofacial Syndrome
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Mitral steno... ORPHA:2008
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Cryptorch... ORPHA:286
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis OMIM:614609
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Geleophysic Dysplasia 1
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial anomalous pulmo... OMIM:265380
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... OMIM:253200
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... ORPHA:740
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Cryptorchidism, Double outlet right ventricle, Pulmonary arterial hype... ORPHA:163956
Alkaptonuria
Aortic valve calcification, Mitral valve calcification OMIM:203500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
Mosaic Trisomy 20
Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... ORPHA:1724
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis OMIM:617260
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217093
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... ORPHA:580
Mucopolysaccharidosis Type 3
Cardiomegaly, Atrioventricular block, Reduced left ventricular ejection fraction, Abnormal aortic... ORPHA:581
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Cryptorchidism, Muscular ventricu... OMIM:619503
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Mitral valve calcification, Testicular microlithiasis, R... ORPHA:60025
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology ORPHA:1969
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Azoospe... ORPHA:2072
Hajdu-Cheney Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis ORPHA:955
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Cystic Fibrosis
Male infertility OMIM:219700
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250

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 Dzip1

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 Dzip1.

No publications found that use IMPC mice or data for Dzip1.

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MGI Allele Allele Type Produced
Dzip1em1(IMPC)Ccpcz Exon Deletion Mice
Dzip1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dzip1tm112499(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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