Gene: Lmtk2 MGI:3036247

Log in to follow

Gene Summary

Name:
lemur tyrosine kinase 2
Synonyms:
2900041G10Rik,  KPI-2,  cprk,  KPI2,  A330101P12Rik,  BREK,  AATYK2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal kidney morphology Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
small testis Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
decreased heart rate Lmtk2em1(IMPC)Mbp HOM Early adult 6.38×10-05
male infertility Lmtk2em1(IMPC)Mbp HOM Early adult 0.00
prolonged RR interval Lmtk2em1(IMPC)Mbp HOM Early adult 5.42×10-07
abnormal testis morphology Lmtk2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Lmtk2 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 Lmtk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Bradycardia, Dilated cardiomyopathy, Hypospadias, Micropenis, Hypertrophic cardio... OMIM:618815
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Young Syndrome
Azoospermia OMIM:279000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Cryptorchidism, Ambiguous genitalia, male, Testicular dy... OMIM:608800
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, In... OMIM:619048
Ethanolaminosis
Cardiomegaly OMIM:227150
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Impotence, Nephropathy, Atrioventricular block, Cardiomega... ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Macroorchidism, Cardiomegaly OMIM:300886
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Cardiomegaly, Prolonged QT interval, Patent foramen ov... OMIM:601005
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradycardia, Prema... OMIM:609286
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Nephropathy, Hepat... ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Hemochromatosis, Type 1
Arrhythmia, Azoospermia, Amenorrhea, Impotence, Hepatomegaly, Testicular atrophy, Congestive hear... OMIM:235200
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Hepatom... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Trimethylaminuria
Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria OMIM:602079
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, 3-Methylglutaconic aciduria OMIM:617248
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Proteinuria, Abnormal cardiac ventricular fu... ORPHA:439232
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, B... ORPHA:95717
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Cardiomyopathy OMIM:309930
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Atrioventricular canal defect, Bra... ORPHA:40366
Variegate Porphyria
Tachycardia, Porphyrinuria OMIM:176200
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Adrenocorticotropin deficient adrenal... ORPHA:91355
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Hydroxykynureninuria
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria OMIM:236800
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Elevate... OMIM:121300
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephrotic syndrome, Car... OMIM:617713
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Danon Disease
Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Arrhythmia, Amenorrhea, Erectile dysfunction, Hypothyroidism, Elevated jugular venou... ORPHA:465508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Macroorchidism, Abnormal atrioventricular valve morphology, Tricuspid regurgitati... ORPHA:324410
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular atrophy, First degree atrioventri... OMIM:160900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Tetanus
Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypertension, Tachycardia, Bradyca... ORPHA:3299
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Bradycardia, Hypertrophic cardio... OMIM:618775
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Hypertension, Tachycardia, Micropenis OMIM:613870
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Tachycardia, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Tricuspid regurgitatio... OMIM:618652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Syncope, Hepat... ORPHA:276556
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Bradycardia OMIM:617397
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:266500
Congenital Fibrinogen Deficiency
Internal hemorrhage, Hemorrhagic ovarian cyst, Tachycardia, Right ventricular hypertrophy, Left v... ORPHA:335
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Necrotizing Enterocolitis
Hypotension, Bradycardia, Abnormal heart morphology, Shock ORPHA:391673
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Atrial fibrillation, Hepatomegaly, Tachycardia, Prolonged QT interval, Splenome... OMIM:613327
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, P... ORPHA:137675
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Illum Syndrome
Bradycardia OMIM:208155
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hypothyroidism, Testicular atrophy, Hydronephrosis, Diabetes ins... OMIM:222300
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Myotonic Dystrophy 2
Palpitations, Oligospermia, Tachycardia, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Arrhythmia, Cardiomegaly, Hepatomegaly OMIM:255120
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Bradycardia ORPHA:565624
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglyce... ORPHA:324575
Sickle Cell Anemia
Hematuria, Hypertension, Cholelithiasis, Hepatomegaly, Priapism, Cardiomegaly, Splenomegaly, Rena... OMIM:603903
Renal Nutcracker Syndrome
Infertility, Hematuria, Orthostatic hypotension, Proteinuria, Dyspareunia, Microscopic hematuria,... ORPHA:71273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Impotence, Urinary incontinence, Cardiomega... OMIM:105210
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Positive regitine blocking test, Elevated urinary norepinephrine, Episodic hype... OMIM:171420
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Goiter, Hyperthyroidism OMIM:613239
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Hypertrophic ca... OMIM:212140
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Goiter, Hyperthyroidism OMIM:188580
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Sepsis In Premature Infants
Hypotension, Reversible renal failure, Hepatomegaly, Oliguria, Tachycardia, Splenomegaly, Bradyca... ORPHA:90051
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Vagal... OMIM:168000
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus OMIM:210900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Sudden cardiac death, Hepatomegaly, Cardiomegaly, Dicarboxylic aciduri... OMIM:201475
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Incre... OMIM:256550
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypogonadism, Ab... ORPHA:251066
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic acid... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia ORPHA:276608
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Sp... OMIM:252920
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia,... ORPHA:97297
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Pollakisuria, Right ventricular hypertrophy, Cardiomegaly, Right bundl... ORPHA:268
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3426
Neuroleptic Malignant Syndrome
Arrhythmia, Acute kidney injury, Hypotension, Hypertensive crisis, Hypertension, Urinary incontin... ORPHA:94093
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Snakebite Envenomation
Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, Hypotension, Epistaxis, Hypopitu... ORPHA:449285
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Arrhythmia, Cystic renal dysplasia, Renal tubular epithelial necrosis, Myoglobin... ORPHA:228308
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Dark urine, Chronic kidney disease, Tachycardia, Recurrent myoglobinuria, Ex... ORPHA:368
H Syndrome
Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli... ORPHA:168569
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Encephalitis Lethargica
Urinary incontinence, Bradycardia ORPHA:83600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Long-chain dicarboxylic aciduria, Enlarged kidney... OMIM:608836
Pseudo-Torch Syndrome 3
Acute kidney injury, Hypertension, Cerebral hemorrhage, Cardiomegaly, Proteinuria OMIM:618886
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Short... ORPHA:308552
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Hydroureter, Renal tubular epithelial necrosis, Multicystic kidney... ORPHA:79404
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hep... OMIM:602782
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly OMIM:232300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology, Bilateral c... ORPHA:485405
Hyperthyroidism, Nonautoimmune
Tachycardia, Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Sandhoff Disease
Orthostatic hypotension, Impotence, Urinary incontinence, Hepatomegaly, Cardiomegaly, Hepatosplen... OMIM:268800
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Delayed puberty, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardia... OMIM:614921
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature pubarche, Hypothyroidism, Ventricular tachycardia, Ventricular fibr... OMIM:616878
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Pheochromocytoma
Pheochromocytoma, Positive regitine blocking test, Elevated urinary norepinephrine, Episodic hype... OMIM:171300
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90033
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Fanconi Anemia, Complementation Group A
Cryptorchidism, Horseshoe kidney, Abnormal heart morphology, Hypergonadotropic hypogonadism, Ecto... OMIM:227650
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Paragangliomas 4
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:115310
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Tachycardia, Heart block... ORPHA:542323
Hereditary Coproporphyria
Dark urine, Elevated urinary delta-aminolevulinic acid, Nephropathy, Tachycardia, Increased urina... ORPHA:79273
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Myoglobinuria OMIM:145600
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Acute kidney ... ORPHA:466677
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Glycosuria, Hepatomegaly, Tachycardia, Renal Fan... ORPHA:263455
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:619259
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly OMIM:618838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Hydroxykynureninuria
Hypotension, Renal tubular acidosis, Tachycardia ORPHA:79155
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Ventricular extrasystoles, Myoglobinuria, Ventricular tachycardia, Supravent... ORPHA:423
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol OMIM:229700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Patent foramen ovale, Enlarged kidney, Proteinuria, Abnormal heart morpholo... ORPHA:505248
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia ORPHA:90036
Ogden Syndrome
Cryptorchidism, Arrhythmia, Atrial septal defect, Ventricular septal defect, Ventricular extrasys... OMIM:300855
Eisenmenger Syndrome
Ventricular arrhythmia, Tricuspid regurgitation, Pulmonary arterial hypertension, Renal insuffici... ORPHA:97214
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Ventricular tachycardia, Hepatomegaly, Oliguria, Dicarboxylic aciduria, ... ORPHA:159
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Fucosidosis
Mucopolysacchariduria, Hypothyroidism, Cardiomegaly, Hepatomegaly ORPHA:349
Porphyria, Acute Intermittent
Dysuria, Hypertension, Urinary incontinence, Tachycardia, Urinary retention, Elevated urinary del... OMIM:176000
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock ORPHA:158687
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Hematuria, Prolonged QRS complex, Supraventricular arrhy... ORPHA:90068
Lesch-Nyhan Syndrome
Hyperuricosuria, Testicular atrophy, Nephrolithiasis OMIM:300322
Steinert Myotonic Dystrophy
Male hypogonadism, Cardiac conduction abnormality, Ovarian carcinoma, Hypergonadotropic hypogonad... ORPHA:273
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Ethylene Glycol Poisoning
Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosis, Atrial fibr... ORPHA:31826
Mercury Poisoning
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:330021
Carney Triad
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ... ORPHA:139411
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mell... ORPHA:96191
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Mucopolysacchariduria, Hepatomegaly, Heart murmur, Congestive heart failure... OMIM:252500
Porphyria Variegata
Neurogenic bladder, Elevated urinary delta-aminolevulinic acid, Hypertension, Tachycardia, Chroni... ORPHA:79473
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Relapsing Fever
Hematuria, Acute kidney injury, Hypotension, Epistaxis, Tachycardia ORPHA:91547
Cholera
Abnormality of renal excretion, Acute kidney injury, Hypotension, Tachycardia, Hypovolemic shock,... ORPHA:173
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Beckwith-Wiedemann Syndrome
Cryptorchidism, Multiple renal cysts, Enlarged kidney, Pseudohypoparathyroidism, Gonadoblastoma, ... ORPHA:116
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Fucosidosis
Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Tularemia
Tachycardia ORPHA:3392
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Hypercalciuria, Vesicoureteral reflux, Cerebral ... ORPHA:904
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Abnormal mitral valve morphology, Mucopolysacchariduria, Abnormal aort... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Delayed puberty, Right ventricul... OMIM:300967
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Mirizzi Syndrome
Gallbladder perforation, Cholesterol gallstones, Dark urine, Cholelithiasis, Tachycardia, Abnorma... ORPHA:521219
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Short... ORPHA:365
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Stiff-Person Syndrome
Diabetes mellitus, Tachycardia, Hypertension OMIM:184850
Serotonin Syndrome
Hypotension, Tachycardia, Acute kidney injury, Hypertension ORPHA:43116
Bacterial Toxic-Shock Syndrome
Hypotension, Glomerulonephritis, Tachycardia, Shock, Renal insufficiency, Myocarditis, Capillary ... ORPHA:36234
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae, Abnormality of the thymus ORPHA:2463
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteron... ORPHA:534
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Orthostatic hypotension, Glomerular sclerosis, Hypertension, Tachycardia OMIM:223900
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol ORPHA:348
Acute Intermittent Porphyria
Dysuria, Dark urine, Elevated urinary delta-aminolevulinic acid, Hypertension, Urinary incontinen... ORPHA:79276
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Cholelithiasis ORPHA:2072
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Left ventricular systolic dysfunction, Adrenal calcif... ORPHA:51608
Cystinosis, Nephropathic
Male hypogonadism, Generalized aminoaciduria, Polyuria, Glycosuria, Hepatomegaly, Microscopic hem... OMIM:219800
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Clito... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Arrhythmia, Irregular menstruation, Elevated circulating thyroid-stimulating hormon... OMIM:256040
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Ectopic kidney, Hypospadias ORPHA:3063
Aicardi-Goutières Syndrome
Hypothyroidism, Hepatosplenomegaly, Cardiomegaly, Diabetes mellitus, Micropenis, Raynaud phenomen... ORPHA:51
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Hepatomegaly, Tachycardia, Splenomegaly, Syncope ORPHA:98849
Familial Dysautonomia
Renal insufficiency, Hypertension, Tachycardia, Orthostatic hypotension ORPHA:1764
Noonan Syndrome 1
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Hypospadias, ... OMIM:163950
Abetalipoproteinemia
Hepatomegaly, Hypothyroidism, Congestive heart failure, Cardiomegaly ORPHA:14
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Pancreatic islet-cell hyperplasia OMIM:215140
Graft Versus Host Disease
Hepatosplenomegaly, Tachycardia ORPHA:39812
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Hypercalciuria, Male infertility, Hepatosplenomegaly OMIM:219700
Plague
Arrhythmia, Endocarditis, Hematemesis, Hypotension, Hepatomegaly, Tachycardia, Splenomegaly ORPHA:707
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Cardiomegaly, Aortic... OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lmtk2

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 Lmtk2.

No publications found that use IMPC mice or data for Lmtk2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Lmtk2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lmtk2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Lmtk2em1(IMPC)Mbp Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter