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Gene: Nexn MGI:1916060

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nexilin
Synonyms:
nF actin binding protein,  1110046H09Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nexn mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... OMIM:611615
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Ethanolaminosis
Cardiomegaly OMIM:227150
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Dilated cardiomyopathy OMIM:618097
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Achilles tendon contracture, Muscle fib... OMIM:609200
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... OMIM:300580
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... ORPHA:171442
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Facial palsy, Myopathy OMIM:602541
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart ... OMIM:602390
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Myopathy, Centronuclear, 5
Hip contracture, Facial palsy, Dilated cardiomyopathy OMIM:615959
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... ORPHA:98912
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, L... ORPHA:563
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Cardiomegaly, Cardiomyopathy, Atrioventricular block ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Dilated cardiomy... OMIM:161800
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy ORPHA:320360
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Prolonged QT interval... OMIM:610198
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... ORPHA:98911
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Reduced systolic function OMIM:618805
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Dk1-Cdg
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated ... ORPHA:91131
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy, Facial palsy, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrop... OMIM:619167
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly OMIM:607685
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Myopathy, Congenital, With Fiber-Type Disproportion
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated cardiomyopathy, Limb j... OMIM:255310
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... ORPHA:217607
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy OMIM:619651
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... OMIM:115197
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Gen... ORPHA:352447
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Polymyositis
Abnormal mitral valve morphology, Hepatomegaly, Arrhythmia, Vasculitis, Myocardial infarction, Ab... ORPHA:732
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... ORPHA:263297
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... OMIM:609452
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pel... OMIM:607155
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Dilated cardiomyopathy, Portal hypertension,... ORPHA:367
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction OMIM:145350
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Ankle flexion contracture, Dilated cardiomyopathy OMIM:618120
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Neonatal Lupus Erythematosus
Hepatomegaly, Splenomegaly, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dil... ORPHA:398124
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Renovascular hypertension, Aortic regurgitation, Dilated cardiomyopathy, O... ORPHA:401923
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... OMIM:617336
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrop... ORPHA:99901
Barth Syndrome
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic ... OMIM:302060
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... OMIM:613155
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiom... OMIM:212140
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Atrial septal defect, Small for gestational age, Tachycardia, Arrhythmia, Ventricul... ORPHA:26793
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... ORPHA:86812
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Abnormal heart valve morphology, Hypertrophic... OMIM:230500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... ORPHA:57777
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy OMIM:616730
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive, Small for gestational age, Arrhythmia, Dilated cardiomyopathy, Congestive hear... OMIM:609015
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Infantile Sialic Acid Storage Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Cardiomegaly, Congestive heart failure OMIM:269920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy OMIM:300842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... OMIM:600996
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... OMIM:619343
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... OMIM:261740
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Prolonged QT interval, Card... OMIM:601005
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Ventricular septal defect, Pulmonary arterial hy... OMIM:614921
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Hemochromatosis, Type 2B
Hepatomegaly, Cardiomyopathy, Congestive heart failure, Splenomegaly OMIM:613313
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Pr... ORPHA:71212
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:93476
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy OMIM:618348
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive ... OMIM:235200
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aorti... ORPHA:2326
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia OMIM:610768
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... ORPHA:75249
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, Hypertrophic c... OMIM:615382
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Hematochezia, Dilated cardiomyopathy, Cardiomyopat... OMIM:615895
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Enlarged kidney, Situs inversus totalis, ... OMIM:615415
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac condu... ORPHA:70474
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy ORPHA:70595
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure OMIM:253250
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Congesti... OMIM:242840
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... ORPHA:308552
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Weakness of facial musculature, Mitral regurgitation, Increased variabilit... OMIM:607459
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... OMIM:164310
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Diaphragmatic eventration, Dilated cardiomyopathy, Prolonged ... ORPHA:66634
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Heart murmur, Diffuse alveolar hemorrhage, C... ORPHA:99931
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy, Tachycardia OMIM:618321
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Left ventricular hypertrophy, Palpitations, Quadriceps muscle weakness, Arrhythm... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Hepatomegaly, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Dilated cardiomyopathy, Antenatal intracerebral hemorr... OMIM:608836
Alstrom Syndrome
Hepatomegaly, Truncal obesity, Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:203800
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Calf muscle hy... OMIM:253800
Polyarteritis Nodosa
Raynaud phenomenon, Weight loss, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Small for gestational age OMIM:613320
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Mitral regurgitation, Dilated cardiomyopathy ORPHA:261250
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Hypotension, Dilated cardiomyopathy, Weight loss, Cardiac arrest, Prolonged prothro... ORPHA:20
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Elevated jugular venous pressure, Portal hypertension, We... ORPHA:465508
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Arrhythmia, Hepatomegaly, Cardiomegaly ORPHA:42
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Dilated cardiomyopathy OMIM:613989
Dominant Beta-Thalassemia
High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Arrhythmia, Dilated cardi... ORPHA:231226
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... ORPHA:3342
Melas
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopat... ORPHA:550
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Large for gestational age, Peric... OMIM:239850
Beta-Thalassemia Major
High-output congestive heart failure, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arrhythmia,... ORPHA:231214
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... ORPHA:363705
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Familial Aortic Dissection
Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly ORPHA:229
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Ventricular tachycardia, Ventricula... OMIM:212138
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Achalasia, Cardiomyopathy, Congestive heart ... ORPHA:3386
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Small for gestational age OMIM:616897
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Truncal obesity OMIM:616541
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hepatomegaly, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertro... ORPHA:255210
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive heart failure ORPHA:73224
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Cardiomegaly, Hypovolemic shock ORPHA:158687
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Failure to thrive, Vasculitis in the skin, Splenomegaly, Raynaud phe... ORPHA:3260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Dilated cardiomyopathy, Failure to thrive ORPHA:89842
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Splenomegaly, Raynaud phenomenon, Hepatosplenomegaly, Vasculitis, Dilated cardiomyo... OMIM:615688
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis ORPHA:3243
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Subdural hemorrhage, Pulmonary embolism, Dilated cardiomyopathy, Pulmonary art... ORPHA:79282
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy OMIM:618839
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Reduced left ventricular ejection fraction, Abnormal EKG, Right bu... ORPHA:268
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Hepatomegaly, Atrioventricular canal defect, Small for gestational age, Thi... OMIM:619573
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... ORPHA:565612
Fucosidosis
Failure to thrive, Hepatomegaly, Cardiomegaly ORPHA:349
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Failure to thrive, Tricuspid regurg... ORPHA:2556
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Splenomegaly, Subarachnoid he... OMIM:232300
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Cardiomyopathy, Myopathy, Congestive ... ORPHA:90970
Sickle Cell Anemia
Hypertension, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death, Cardiomegaly OMIM:608013
Steinert Myotonic Dystrophy
Facial diplegia, Supraventricular tachycardia, Prolonged QRS complex, Weakness of facial musculat... ORPHA:273
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Eunuchoid habitus, Cardiomegaly ORPHA:2463
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Left ventricular hyp... ORPHA:365
Congenital Tracheomalacia
Failure to thrive, Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septa... ORPHA:95430
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Ventricu... OMIM:602782
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, Failure to thrive, Tetralogy of Fallot, Dilated cardiomyopath... ORPHA:1606
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Hepatomegaly, Splenomegaly, Mitral regurgitation, Enlarged kidney, Heart murmu... OMIM:252500
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Severe Generalized Junctional Epidermolysis Bullosa
Failure to thrive, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Nonc... OMIM:607872
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventric... OMIM:300967
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Abetalipoproteinemia
Failure to thrive, Hepatomegaly, Prolonged prothrombin time, Cardiomegaly, Congestive heart failure ORPHA:14
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Johanson-Blizzard Syndrome
Failure to thrive, Atrial septal defect, Small for gestational age, Ventricular septal defect, Si... OMIM:243800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Splenomegaly, Abnormal ao... ORPHA:581
Choreoacanthocytosis
Weight loss, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly ORPHA:2388
Beckwith-Wiedemann Syndrome
Hepatomegaly, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopathy, Cardiomegaly OMIM:130650
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Severe failure to thrive, Cardiomegaly, Bradycardia ORPHA:97297
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy ORPHA:79408
Ogden Syndrome
Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum atrial septal ... OMIM:300855
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Raynaud phenomenon ORPHA:51
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Mitral regurgitation, Sudden cardiac death, ... ORPHA:391665
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Yunis-Varon Syndrome
Atrial septal defect, Severe failure to thrive, Tetralogy of Fallot, Renovascular hypertension, V... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Hepatomegaly, Splenomegaly, Arrhythmia, Cardiomegaly, Congestive heart failure OMIM:256040
Singleton-Merten Syndrome 1
Aortic valve calcification, Decreased body weight, Aortic valve stenosis, Mitral valve calcificat... OMIM:182250
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Enlarged kidney, Large for gestational age, Visceromegaly, Obesity, H... ORPHA:116
Liver Disease, Severe Congenital
Failure to thrive, Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Spleno... OMIM:619991
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Generalized Arterial Calcification Of Infancy
Weak pulse, Myocardial calcification, Retinal hemorrhage, Failure to thrive in infancy, Left vent... ORPHA:51608
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Alström Syndrome
Myocardial fibrosis, Hepatomegaly, Splenomegaly, Abnormal coronary artery physiology, Hepatosplen... ORPHA:64

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 Nexn

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 Nexn.

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

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MGI Allele Allele Type Produced
Nexntm114979(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nexntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nexntm114979(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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