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

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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 Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 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		Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Familial Isolated Dilated Cardiomyopathy		Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	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	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win...	OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Increased varia...	OMIM:617072
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Atrial Fibrillation, Familial, 15	Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde...	OMIM:615770
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At...	OMIM:300257
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Infertility, Rod-cone dystrophy	OMIM:300719
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb mu...	OMIM:613205
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Timothy Syndrome	Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pu...	OMIM:601005
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent...	OMIM:212138
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Trimethylaminuria	Tachycardia, Recurrent pneumonia, Hypertension	OMIM:602079
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro...	OMIM:611705
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi...	ORPHA:363741
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Myotonic Dystrophy 2	Right bundle branch block, Premature ventricular contraction, Sternocleidomastoid amyotrophy, Gen...	OMIM:602668
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, C...	OMIM:610125
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak...	ORPHA:90064
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr...	OMIM:301099
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyocyte mitochondrial proliferation, ...	ORPHA:423
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom...	ORPHA:139471
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy	OMIM:255100
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Pulmonary artery stenosis, Re...	OMIM:620504
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:619515
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Pneumonia, Prolonged QT interval, Patent foramen ovale, Ventricular fibrill...	ORPHA:26793
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Myopathy, Arrhythmia	ORPHA:104
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:301059
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A...	OMIM:618664
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist...	OMIM:619566
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell...	OMIM:618643
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Morm Syndrome	Cataract, Retinal atrophy, Micropenis, Retinal dystrophy	ORPHA:75858
Variegate Porphyria	Tachycardia	OMIM:176200
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Opti...	OMIM:611040
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplas...	ORPHA:899
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali...	ORPHA:860
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Spermatogenic Failure 11	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 10	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:614822
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 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
47,Xyy Syndrome	Congenital stationary night blindness, Male infertility, Hypospadias, Azoospermia, Oligozoospermi...	ORPHA:8
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph...	OMIM:115197
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Cardio...	ORPHA:137675
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Pneumonia, Atelectasis, Bradycardia, Cardiac arrest, Hypotension, Respiratory tr...	ORPHA:70587
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Spermatogenic Failure 78	Tapered sperm head, Male infertility, Microcephalic sperm head	OMIM:620170
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 17	Male infertility	OMIM:617214
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Partington Syndrome	Macroorchidism	ORPHA:94083
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delayed menarche, Fema...	ORPHA:52901
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613801
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Spermatogenic Failure 86	Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Spermatogenic Failure 5	Macrozoospermia, Male infertility, Multiflagellar spermatozoa	OMIM:243060
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar...	OMIM:251270
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri...	OMIM:616878
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl...	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
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia	ORPHA:159
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Spermatogenic Failure 64	Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti...	OMIM:619696
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi...	ORPHA:891
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Abnormal retina...	ORPHA:3378
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio...	ORPHA:1473
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	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
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Cataract	OMIM:620312
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	ORPHA:154
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Scorpion Envenomation	Myocarditis, Congestive heart failure, Pulmonary edema, Prominent U wave, Hypertension, Premature...	ORPHA:466677
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276556
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Decreased female libido, Decr...	ORPHA:91349
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ...	OMIM:613870
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Retinopathy Of Prematurity	Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame...	OMIM:614302
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
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
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri...	ORPHA:77298
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia, Hypogonadism	ORPHA:2528
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276575
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Juvenile cataract, Male hypogonadism, Macroorchidism	OMIM:300055
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276580
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Tran...	ORPHA:99104
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,...	OMIM:305390
Snakebite Envenomation	Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardiogenic shock, Epistax...	ORPHA:449285
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed...	OMIM:600059
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa...	OMIM:616171
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A...	OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab...	ORPHA:1055
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ...	ORPHA:368
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Hypotension	OMIM:145600
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Ogden Syndrome	Left atrial enlargement, Pulmonary edema, Perimembranous ventricular septal defect, Cardiomegaly,...	OMIM:300855
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi...	OMIM:170390
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy	OMIM:618234
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Microphthalmia/Coloboma 12	Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch...	OMIM:120200
Cockayne Syndrome Type 2	Male hypogonadism, Anophthalmia, Developmental cataract, Conjunctivitis, Cryptorchidism	ORPHA:90322
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Bronchiecta...	OMIM:619705
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis, Retinal dystrophy	OMIM:610156
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve...	ORPHA:49827
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Unilateral microphthalmos, Hypospadias, Iris coloboma	OMIM:618874
Fragile X Syndrome	Macroorchidism	ORPHA:908
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Microphthalmia, Cryptorchidism, Optic disc pallor	OMIM:613730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia...	OMIM:615877
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pu...	OMIM:221900
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ...	OMIM:620103
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Tetralogy of Fallot, Heart murmu...	ORPHA:3426
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Tachycardia	ORPHA:324575
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Irregular menstruation	ORPHA:180229
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Gitelman Syndrome	Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations	OMIM:263800
Marshall-Smith Syndrome	Hypertension, Premature ventricular contraction, Dysplastic aortic valve, Pulmonary arterial hype...	OMIM:602535
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Recurrent respiratory...	ORPHA:1330
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o...	ORPHA:2470
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology, Aspiration pneumonia	ORPHA:79264
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of r...	ORPHA:3085
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ...	OMIM:620067
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Spermatogenic Failure 38	Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe...	OMIM:618433
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural...	ORPHA:542323
Congenital Fibrinogen Deficiency	Tachycardia, Right ventricular hypertrophy, Internal hemorrhage, Left ventricular hypertrophy	ORPHA:335
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Stiff-Person Syndrome	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif...	OMIM:184850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Abno...	ORPHA:1101
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
High Altitude Pulmonary Edema	Tachycardia, Pulmonary edema	ORPHA:330012
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P...	ORPHA:75565
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Lower limb muscle weakness	OMIM:619737
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme...	OMIM:601813
Spermatogenic Failure 75	Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf...	OMIM:619949
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cockayne Syndrome Type 1	Optic atrophy, Anophthalmia, Cryptorchidism, Conjunctivitis, Cataract, Male hypogonadism, Pigment...	ORPHA:90321
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,...	OMIM:312600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Anencephaly 2	Anophthalmia	OMIM:619452
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Mccune-Albright Syndrome	Decreased fertility, Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circu...	ORPHA:562
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Secondary growth hormone deficiency, Primary amenorrhea, Cataract...	ORPHA:2410
Leber Congenital Amaurosis 1	Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P...	OMIM:204000
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Anophthalmia, Microcornea, Male...	ORPHA:564
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Pulmonary edema, Myopathy, Bradycardia, ST segment elevation, Cardiomyo...	OMIM:261740
Senior-Loken Syndrome	Cataract, Premature ovarian insufficiency, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Abnormal vitreous humor morphology, Microphthalmia, Hypospadias...	ORPHA:2556
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Transposition of the great arteries, Aortic regurgitatio...	ORPHA:3384
Tularemia	Tachycardia, Pneumonia, Pleural effusion	ORPHA:3392
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype...	OMIM:613327
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Wild Type Attr Amyloidosis	Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary edema, Bradycardi...	ORPHA:330001
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
16P12.1P12.3 Triplication Syndrome	Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology	ORPHA:485405
Mercury Poisoning	Tachycardia, Interstitial pneumonitis, Hypertension, Hypotension	ORPHA:330021
Hereditary Coproporphyria	Tachycardia, Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs	ORPHA:79273
Vacterl With Hydrocephalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Abnormal optic ner...	ORPHA:3412
Trisomy 1Q	Small scrotum, Ambiguous genitalia, Cryptorchidism, Anophthalmia	ORPHA:261344
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Posterior synechiae of the anter...	OMIM:612109
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr...	OMIM:300578
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Emphysema, Aortic regurgitation, Mitral valve...	ORPHA:558
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject...	ORPHA:444013
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Trisomy 20P	Cryptorchidism, Hypospadias, Macroorchidism	ORPHA:261318
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Pulmonary arterial hypertension, Rhabdomyolysis, Tachycardia, Aborted sudden cardia...	OMIM:614921
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar...	OMIM:615986
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract	OMIM:615181
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Cocaine Intoxication	Pneumothorax, Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmi...	ORPHA:90068
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Nance-Horan Syndrome	Retinal detachment, Microcornea, Microphthalmia, Cataract	ORPHA:627
Sarcoidosis	Pneumothorax, Heart block, Emphysema, Abnormal cardiac ventricular function, Chylothorax, Facial ...	ORPHA:797
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant...	OMIM:609049
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr...	OMIM:142900
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryp...	OMIM:614225
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc...	ORPHA:263479
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Small scrotum, Microcornea, Hypoplastic labia minora, Decreased te...	OMIM:614222
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept...	OMIM:614653
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c...	ORPHA:414
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension	ORPHA:43116
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Classic Galactosemia	Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ...	ORPHA:79239
Ethylene Glycol Poisoning	Congestive heart failure, Pulmonary edema, Prolonged QT interval, Atrial fibrillation, Hypertensi...	ORPHA:31826
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Micro Syndrome	Optic atrophy, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retina...	ORPHA:2510
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Thyroid hypoplasia, Goiter, Increased circulating prolactin concentrati...	ORPHA:90674
Holoprosencephaly	Optic atrophy, Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhy...	ORPHA:2162
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Microcornea, C...	ORPHA:141099
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus...	OMIM:232300
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus	OMIM:601186
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Bacterial Toxic-Shock Syndrome	Myocarditis, Pneumonia, Capillary leak, Myositis, Hypotension, Respiratory tract infection, Tachy...	ORPHA:36234
Spermatogenic Failure 14	Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula...	OMIM:615842
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Recurrent respiratory infections, Patent foramen ovale, Tricuspid regur...	ORPHA:505248
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous...	ORPHA:261534
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia	OMIM:610131
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia, Small scrotum, Cryptorchidism	ORPHA:264200
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyalo...	OMIM:300166
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension, Recurrent infections due to aspiration	OMIM:223900
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, De...	ORPHA:1359
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes...	ORPHA:99429
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl...	ORPHA:254892
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia, Iris coloboma	OMIM:605627
Familial Dysautonomia	Orthostatic hypotension, Hypertension, Abnormal pleura morphology, Tachycardia, Recurrent respira...	ORPHA:1764
49,Xyyyy Syndrome	External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si...	ORPHA:99330
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Graft Versus Host Disease	Pneumonia, Dupuytren contracture, Myositis, Skeletal muscle atrophy, Tachycardia	ORPHA:39812
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Cholera	Tachycardia, Hypovolemic shock, Hypotension, Aspiration pneumonia	ORPHA:173
Porphyria Variegata	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension	ORPHA:79473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Aspiration pneumonia, Rhabdomyolysis...	ORPHA:94093
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Skeletal muscle hypertrophy, Supr...	ORPHA:280365
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cry...	ORPHA:3301
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Kapur-Toriello Syndrome	Microphthalmia, Hypoplastic labia majora, Retinal coloboma, Cataract, Cryptorchidism, Micropenis,...	OMIM:244300
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Pneumonia, Melena, Capillary leak, Hypertension, Pleural effusion, ...	ORPHA:340
Proteus Syndrome	Retinal hamartoma, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonatt...	ORPHA:744
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Spermatogenic Failure 13	Male infertility, Elevated circulating follicle stimulating hormone level, Abnormal prolactin lev...	OMIM:615841
Charge Syndrome	Optic atrophy, Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Bifid s...	ORPHA:138
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Hypogonadism, Cataract, Pigmentary retinopathy	OMIM:610651
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Retinopathy, Anophthalmia	OMIM:615636
Crimean-Congo Hemorrhagic Fever	Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal...	ORPHA:99827
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hyp...	OMIM:236670
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,...	ORPHA:404443
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypoparathyro...	OMIM:214800
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Corneal opacity, Bicor...	OMIM:219000
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Cl...	OMIM:305600
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Dysplastic pulmonary valve, Tricuspid regurgi...	OMIM:612863
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Microphthalmia, Syndromic 6	Microphthalmia, Retinal dystrophy, Anterior hypopituitarism, Anophthalmia, Microcornea, Female hy...	OMIM:607932
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, Azoospermia, Uroge...	ORPHA:1772
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
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
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, Ovotestis, Chordee, ...	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	Syncope, Hypotension, Tachycardia	ORPHA:98849
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia	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, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Retinal coloboma, Cataract, Cryptorchidism, Supernumer...	OMIM:113620
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c...	ORPHA:79098
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ...	OMIM:614947
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Lower limb muscle weakness, Ventricular fibrillation, Rhabdomyolysis, Incr...	ORPHA:79102
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Atelis Syndrome 2	Vitreous hemorrhage, Microphthalmia, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
Aspartylglucosaminuria	Cataract, Macroorchidism	OMIM:208400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cataract, Cryptorchidism, Micropenis, Hypogonado...	OMIM:603457
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hypospadias, Anophthalmia, Microcornea, Chorioretinal colo...	OMIM:309800
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff...	ORPHA:91347
Degcags Syndrome	Pneumonia, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, Pul...	OMIM:619488
Plague	Hematemesis, Acute infectious pneumonia, Hypotension, Arrhythmia, Tachycardia, Endocarditis	ORPHA:707
Tuberous Sclerosis 1	Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:191100
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Emphysema, B...	OMIM:614437
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse, Non-small cell lung carc...	ORPHA:137605
Alg9-Cdg	Abnormal lung lobation, Atrial septal defect, Torticollis, Abnormal left ventricular outflow trac...	ORPHA:79328
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Weakness of facial musc...	ORPHA:273
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism	OMIM:227650
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t...	ORPHA:637
Aspartylglucosaminuria	Macroorchidism	ORPHA:93
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Tuberous Sclerosis 2	Pulmonary lymphangiomyomatosis, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma	OMIM:613254
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia o...	OMIM:619539
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Cardiac myxoma, Supraventricular tachycardia	OMIM:181270
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita...	ORPHA:391665
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Mitral valve prolapse, Macroglossia	ORPHA:369950
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretin...	OMIM:157170
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Pulm...	OMIM:270400
Viss Syndrome	Pneumothorax, Atrial septal defect, Pulmonary artery aneurysm, Epidural hemorrhage, Emphysema, Pa...	OMIM:619472
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	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 21.0 Data