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Gene: Kctd19 MGI:3045294

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Gene Summary

Name:
potassium channel tetramerisation domain containing 19
Synonyms:
4922504H04Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Kctd19em1(IMPC)J HOM Early adult 7.19×10-05
male infertility Kctd19em1(IMPC)J HOM Early adult 0.00
prolonged PQ interval Kctd19em1(IMPC)J HOM Early adult 5.54×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Kctd19 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kctd19 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
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
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 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 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
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
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
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
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Secondary amenorrhea OMIM:301033
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Nathalie Syndrome
Abnormal EKG OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea OMIM:612526
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:310300
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Increased level of galactitol in... ORPHA:79237
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Congestive heart failure, Oligomenorrhea, Hyperc... ORPHA:528
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Cryptorchidism OMIM:616222
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hypertension, Hyperuricemia ORPHA:77296
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... ORPHA:263297
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:231625
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... ORPHA:412
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Laron Syndrome
Hypercholesterolemia ORPHA:633
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Increased LDL... OMIM:278000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Cryptorchidism ORPHA:96184
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:264580
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... OMIM:310200
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy OMIM:618348
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:79240
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... ORPHA:90041
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:610644
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Retrograde ... ORPHA:230
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... ORPHA:363618
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... ORPHA:85443
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Macroorchidism, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neon... ORPHA:90674
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension ORPHA:69663
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Irregular menstruation, Xanthelasma, Hypertensio... ORPHA:79259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... ORPHA:480864
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension OMIM:151660
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy... ORPHA:275761
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism OMIM:619471
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Steinert Myotonic Dystrophy
Atrial fibrillation, Hypergonadotropic hypogonadism, Prolonged QRS complex, Left ventricular syst... ORPHA:273
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... ORPHA:391665
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... ORPHA:268
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Immunodeficiency 47
Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration OMIM:300972
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Cryptorchidism, Azoospermia, Hypokalemia, Hyperaldosteronism, Hypoph... ORPHA:534
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypermagnesemia, Low-to-normal blood pressure, Hypokal... ORPHA:358
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... ORPHA:466650
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... OMIM:309000
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Hyp... OMIM:606721
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Hyperlipidemia, Abnormal spermatogenesis, Hypogona... ORPHA:3464
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
African Trypanosomiasis
Abnormal EKG, Pericarditis, Abnormality of the menstrual cycle, Myocarditis, Congestive heart fai... ORPHA:3385
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal T-wave ORPHA:444072
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypogonadism OMIM:163950
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Cystic Fibrosis
Male infertility OMIM:219700

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 Kctd19

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 Kctd19.

No publications found that use IMPC mice or data for Kctd19.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Kctd19em1(IMPC)J Exon Deletion Mice
Kctd19tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kctd19tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kctd19tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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