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Gene: Bag5 MGI:1917619

Gene Summary

Name:

BCL2-associated athanogene 5

Synonyms:

4930405J06Rik, 1600025G07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Bag5^em1(IMPC)Mbp	HOM	Early adult	1.12×10^-05
anophthalmia	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Bag5^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal brain morphology	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged testis	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
male infertility	Bag5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Bag5^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Bag5 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.

Human diseases associated with Bag5 (2 diseases)
Human diseases predicted to be associated with Bag5 (665 diseases)

The table below shows human diseases associated to Bag5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cardiomyopathy, Dilated, 2F		Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Familial Isolated Dilated Cardiomyopathy		Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154

The table below shows human diseases predicted to be associated to Bag5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass...	ORPHA:263297
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617072
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy, Infertility	OMIM:300719
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation...	OMIM:613205
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre...	OMIM:212138
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:611638
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Trimethylaminuria	Tachycardia, Recurrent pneumonia, Hypertension	OMIM:602079
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d...	ORPHA:363741
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia,...	OMIM:610125
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada...	ORPHA:98798
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Palpitations, Weakness of facial musculature, Premature ventricul...	OMIM:602668
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of...	ORPHA:90064
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Supraventricular tachycardia, Hi...	ORPHA:423
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy, Microphthalmia	OMIM:601794
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Scle...	ORPHA:139471
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr...	OMIM:620504
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,...	OMIM:181350
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Paten...	ORPHA:26793
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Leber Hereditary Optic Neuropathy	Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir...	ORPHA:179
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Cataract, Exudative vitreoretinopathy, V...	OMIM:143200
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l...	OMIM:619566
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy	OMIM:300376
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon...	ORPHA:422
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Variegate Porphyria	Tachycardia	OMIM:176200
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Walker-Warburg Syndrome	Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Cryptorchidism, Anophthalm...	ORPHA:899
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Spastic Paraparesis And Deafness	Hypogonadism, Cataract	OMIM:312910
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Micropenis, Oligo...	ORPHA:8
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Cataract	OMIM:165300
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 17	Male infertility	OMIM:617214
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Partington Syndrome	Macroorchidism	ORPHA:94083
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib...	ORPHA:52901
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ...	OMIM:251270
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Ventricular tachycardia, Ventric...	OMIM:616878
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia	ORPHA:159
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Functioning Gonadotropic Adenoma	Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ...	ORPHA:91348
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir...	ORPHA:891
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Trisomy 13	Optic atrophy, Cataract, Abnormal morphology of female internal genitalia, Cryptorchidism, Anopht...	ORPHA:3378
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen...	OMIM:614292
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Cataract	OMIM:620312
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Non-Functioning Pituitary Adenoma	Hypopituitarism, Decreased fertility in females, Female hypogonadism, Decreased fertility in male...	ORPHA:91349
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276556
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca...	OMIM:613870
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve...	OMIM:240950
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo...	ORPHA:97214
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
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
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Hypoplasia of penis, H...	ORPHA:77298
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox...	OMIM:614302
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Cataract, Microcornea, Microphthalmia	ORPHA:2528
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Optic nerve ...	OMIM:617319
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276575
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism, Juvenile cataract	OMIM:300055
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276580
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra...	ORPHA:99104
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split...	OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal...	OMIM:305390
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Subcapsular cataract, Retinal degenerati...	OMIM:600059
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Rhabdomyolysis, Muscle fiber necros...	ORPHA:449285
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht...	OMIM:212550
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98855
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional re...	ORPHA:91495
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cataract, Microcornea, Macular atrophy, Retinopathy, Microphthalmia, Optic disc pa...	OMIM:616171
Meckel Syndrome, Type 8	Ambiguous genitalia, Anophthalmia, Microphthalmia	OMIM:613885
Leber Congenital Amaurosis 2	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Systolic h...	ORPHA:980
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:120433
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu...	ORPHA:368
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension, Rhabdomyolysis	OMIM:145600
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom...	ORPHA:98853
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome	OMIM:618234
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Ogden Syndrome	Pulmonary edema, Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de ...	OMIM:300855
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Scapular winging, Prol...	OMIM:170390
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity...	OMIM:120200
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Anophthalmia, Developmental cataract, Conjunctivitis	ORPHA:90322
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Fragile X Syndrome	Macroorchidism	ORPHA:908
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia...	ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclero...	OMIM:615877
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract, Cryptorchidism, Microphthalmia	OMIM:613730
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior c...	OMIM:221900
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin...	OMIM:620103
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus...	ORPHA:98863
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract	ORPHA:1875
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Norrie Disease	Retinal fold, Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Double Outlet Right Ventricle	Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Ventricular ...	ORPHA:3426
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Irregular menstruation	ORPHA:180229
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations	ORPHA:324575
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Scler...	OMIM:206900
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasi...	ORPHA:2470
Gitelman Syndrome	Hypotension, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval	OMIM:263800
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Tachycardia, Aspiration pneumonia	ORPHA:79264
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycys...	ORPHA:3085
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Ventricular septal defect, Pr...	OMIM:602535
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi...	OMIM:620067
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Combined Oxidative Phosphorylation Deficiency 38	Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:618378
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy...	ORPHA:542323
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular...	OMIM:618086
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal optic nerve morphology, Megalocornea, Aniridia, Cryptorchidism, Anophthalmia, Abnormal v...	ORPHA:1101
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Hypertension, Axia...	OMIM:184850
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia	ORPHA:330012
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Lower limb muscle weakness	OMIM:619737
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Cataract, Cryptorchidism, Anophthalmia,...	ORPHA:90321
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Anencephaly 2	Anophthalmia	OMIM:619452
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Mccune-Albright Syndrome	Precocious puberty, Irregular menstruation, Increased circulating prolactin concentration, Goiter...	ORPHA:562
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Decreased fertility, Primary amenorrhea, Increased...	ORPHA:2410
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Meckel Syndrome	Optic atrophy, Microcornea, Cataract, Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia...	ORPHA:564
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy	ORPHA:3156
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am...	ORPHA:893
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Retinal dystrophy, Abnormality of retinal pigmen...	ORPHA:2556
Truncus Arteriosus	Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati...	ORPHA:3384
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Tularemia	Pneumonia, Tachycardia, Pleural effusion	ORPHA:3392
Anophthalmia Plus Syndrome	Iris coloboma, Anophthalmia	ORPHA:1104
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio...	OMIM:269400
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
16P12.1P12.3 Triplication Syndrome	Abnormal heart morphology, Tachycardia, Abnormal tricuspid valve morphology, Atrial septal defect	ORPHA:485405
Mercury Poisoning	Interstitial pneumonitis, Tachycardia, Hypotension, Hypertension	ORPHA:330021
Hereditary Coproporphyria	Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs	ORPHA:79273
Vacterl With Hydrocephalus	Microcornea, Abnormal optic nerve morphology, Cryptorchidism, Anophthalmia, Abnormal fallopian tu...	ORPHA:3412
Trisomy 1Q	Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia	ORPHA:261344
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620438
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Attenuation of r...	OMIM:300578
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Cornea...	OMIM:152950
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Marfan Syndrome	Aortic regurgitation, Spontaneous pneumothorax, Skeletal muscle atrophy, Pulmonary artery dilatat...	ORPHA:558
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p...	ORPHA:90790
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility	OMIM:108420
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism	ORPHA:261318
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Cataract, Abnormal optic nerve morphology, Abnormality of retinal pigmentation, An...	ORPHA:2526
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ...	OMIM:614921
Bardet-Biedl Syndrome 9	Irregular menstruation, Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal dege...	OMIM:615986
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,...	ORPHA:90068
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con...	OMIM:610256
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment, Microphthalmia	ORPHA:627
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Portal hypertension, Pleural effusion, Arrhyt...	ORPHA:797
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Warburg Micro Syndrome 2	Optic atrophy, Small scrotum, Cataract, Microcornea, Cryptorchidism, Hypoplastic labia majora, De...	OMIM:614225
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve...	OMIM:142900
Relapsing Fever	Tachycardia, Hypotension, Epistaxis	ORPHA:91547
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi...	ORPHA:90797
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Warburg Micro Syndrome 3	Optic atrophy, Small scrotum, Cataract, Microcornea, Decreased testicular size, Developmental cat...	OMIM:614222
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp...	OMIM:614653
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal...	ORPHA:414
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension, Rhabdomyolysis	ORPHA:43116
Classic Galactosemia	Cataract, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Pre...	ORPHA:79239
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Atrial fibr...	ORPHA:31826
Isolated Thyroid-Stimulating Hormone Deficiency	Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ...	ORPHA:90674
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Micro Syndrome	Optic atrophy, Cataract, Microcornea, Retinal coloboma, Abnormality of retinal pigmentation, Cryp...	ORPHA:2510
Holoprosencephaly	Optic atrophy, Chorioretinal coloboma, Panhypopituitarism, Cryptorchidism, Anophthalmia, Retinopa...	ORPHA:2162
Proboscis Lateralis	Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, External genital hypoplasia, ...	ORPHA:141099
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Carney Triad	Gastrointestinal hemorrhage, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension	ORPHA:139411
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Limb muscle weakness, Pleural effusion, Shortened PR interval, C...	OMIM:232300
Bacterial Toxic-Shock Syndrome	Pneumonia, Hypotension, Shock, Respiratory tract infection, Myositis, Myocarditis, Tachycardia, C...	ORPHA:36234
Spermatogenic Failure 14	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615842
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia	ORPHA:2714
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic cardiomyop...	ORPHA:505248
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy...	ORPHA:261534
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy	OMIM:610131
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
14Q22Q23 Microdeletion Syndrome	Small scrotum, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia	ORPHA:264200
Microphthalmia, Syndromic 2	Iris coloboma, Microcornea, Septate vagina, Cryptorchidism, Anophthalmia, Retinal detachment, Rem...	OMIM:300166
Carney Complex	Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ...	ORPHA:1359
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension, Recurrent infections due to aspiration	OMIM:223900
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cerebrooculonasal Syndrome	Iris coloboma, Hypoplastic male external genitalia, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left...	ORPHA:254892
Familial Dysautonomia	Abnormal pleura morphology, Orthostatic hypotension, Tachycardia, Recurrent respiratory infection...	ORPHA:1764
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy...	ORPHA:99330
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Graft Versus Host Disease	Pneumonia, Skeletal muscle atrophy, Dupuytren contracture, Myositis, Tachycardia	ORPHA:39812
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Cholera	Tachycardia, Hypotension, Hypovolemic shock, Aspiration pneumonia	ORPHA:173
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Porphyria Variegata	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension	ORPHA:79473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Microphtha...	OMIM:614643
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ...	ORPHA:649
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Iris coloboma, Cataract, Microcornea, Cryptorchidism, Microphthalmia, Vaginal atre...	ORPHA:3301
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Aspiration pneumonia, Rhabdomyolysis, Arrhy...	ORPHA:94093
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Myop...	ORPHA:280365
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul...	OMIM:301077
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis,...	OMIM:244300
Proteus Syndrome	Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Central heterochromia, Chorioret...	ORPHA:744
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus...	ORPHA:340
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Spermatogenic Failure 13	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615841
Renal Nutcracker Syndrome	Tachycardia, Syncope, Orthostatic hypotension	ORPHA:71273
Charge Syndrome	Optic atrophy, Bifid scrotum, Abnormal morphology of female internal genitalia, Chorioretinal col...	ORPHA:138
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Elevated circulating luteinizing hormone level, Male hypogonadism, Precoc...	ORPHA:90793
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cataract, Hypogonadism, Microphthalmia	OMIM:610651
Joubert Syndrome 21	Optic atrophy, Retinopathy, Megalopapilla, Anophthalmia	OMIM:615636
Crimean-Congo Hemorrhagic Fever	Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival...	ORPHA:99827
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cataract, Peters anomaly, Megalocornea, Cryptorchidism, Retinal atrophy, Retinal d...	OMIM:236670
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Atrial septal defect, Supraventricular tachycardia with an accessory con...	ORPHA:404443
Charge Syndrome	Cataract, Iris coloboma, Parathyroid hypoplasia, Retinal coloboma, Decreased response to growth h...	OMIM:214800
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Corneal...	OMIM:219000
Focal Dermal Hypoplasia	Optic atrophy, Ectopia lentis, Chorioretinal coloboma, Supernumerary nipple, Aniridia, Cryptorchi...	OMIM:305600
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Microphthalmia, Syndromic 6	Small scrotum, Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia, Sclerocornea, Female hy...	OMIM:607932
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest	OMIM:277400
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Pigmentary retinopathy, Clitoral hypertrophy, Cataract, Peters anomaly, Ovotestis,...	OMIM:309801
Acute Intermittent Porphyria	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension, Proximal muscle weakness in l...	ORPHA:79276
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Hypotension, Syncope	ORPHA:98849
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Microgastria-Limb Reduction Defect Syndrome	Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia	ORPHA:2538
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome	OMIM:601338
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro...	ORPHA:325124
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Branchiooculofacial Syndrome	Iris coloboma, Cataract, Supernumerary nipple, Retinal coloboma, Cryptorchidism, Anophthalmia, Mi...	OMIM:113620
Microphthalmia With Limb Anomalies	Optic atrophy, True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S...	ORPHA:79102
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Aspartylglucosaminuria	Cataract, Macroorchidism	OMIM:208400
Atelis Syndrome 2	Developmental cataract, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:620185
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,...	ORPHA:99826
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Melas	Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card...	ORPHA:550
Bosma Arhinia Microphthalmia Syndrome	Cataract, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Hypoplastic labia ma...	OMIM:603457
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Microphthalmia, Syndromic 1	Iris coloboma, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Ciliary body coloboma, A...	OMIM:309800
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
Degcags Syndrome	Pneumonia, Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, Pulmonary...	OMIM:619488
Plague	Hypotension, Arrhythmia, Hematemesis, Acute infectious pneumonia, Tachycardia, Endocarditis	ORPHA:707
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome	OMIM:191100
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Conge...	OMIM:614437
Legius Syndrome	Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Pulmonic stenosis, Mitral valve pro...	ORPHA:137605
Alg9-Cdg	Hypoplasia of the musculature, Abnormal lung lobation, Tricuspid regurgitation, Abnormal heart mo...	ORPHA:79328
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro...	ORPHA:273
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia	OMIM:227650
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment...	ORPHA:358
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome	OMIM:613254
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna...	OMIM:619539
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure	OMIM:181270
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita...	ORPHA:391665
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Mitral valve prolapse, Wolff-Parkinson-White syndrome	ORPHA:369950
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Mic...	OMIM:157170
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal def...	OMIM:270400
Viss Syndrome	Coronary sinus enlargement, Pulmonary artery aneurysm, Emphysema, Right ventricular hypertrophy, ...	OMIM:619472
Craniofacial Microsomia 1	Limbal dermoid, Anophthalmia, Microphthalmia	OMIM:164210

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 Bag5

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Bag5.

No publications found that use IMPC mice or data for Bag5.

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MGI Allele	Allele Type	Produced
Bag5^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue
Bag5^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Bag5^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bag5 MGI:1917619

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Human diseases caused by Bag5 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data