Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PDZ and LIM domain 3
Synonyms:
ALP

IMPC Data Collections

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

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.

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 Pdlim3 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 Pdlim3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Pedal edema, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Ri... ORPHA:422
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, F... OMIM:300580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... OMIM:616827
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Flexion contracture, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... OMIM:607598
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Right ventricular dilatation ORPHA:369847
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Nemaline Myopathy 3
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle f... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy OMIM:614582
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Cardiomyopathy OMIM:300842
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Cerebral edema, Hypertrophic cardiomyopathy OMIM:611126
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal de... OMIM:619167
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, W... ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
German Syndrome
Lymphedema, Cor pulmonale, Arthrogryposis multiplex congenita OMIM:231080
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Abnormal muscle glycogen content, Flexion contracture, Congestive heart failure, ... ORPHA:367
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Pelvic girdle mu... OMIM:607155
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Myopathy, Left bundle b... OMIM:115197
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath... OMIM:230500
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Atri... ORPHA:398124
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Rhabdomyolysis, Congestive heart failure, Dilated cardiomyopathy, My... OMIM:609015
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Alg1-Cdg
Hypertrophic cardiomyopathy ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:608540
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy OMIM:614096
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Abnormal left ventricular function, Atrial fibrill... ORPHA:75249
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy, Cardiomyopathy OMIM:201470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac... OMIM:614921
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Hypertrophic cardiomyopathy OMIM:613673
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Nephronophthisis 16
Pulmonic stenosis, Aortic valve stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Oligohydramnios, Stillbirth, Pulmonic stenosis, Aorti... OMIM:615415
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Double out... ORPHA:2326
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Abnormal tricuspid valve morphology ORPHA:1759
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis OMIM:618063
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Arthrogryposis multiplex congenita, Edema, Ascites, Skeletal mus... OMIM:232500
Neutral Lipid Storage Disease With Myopathy
Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Situs inversus totalis OMIM:615067
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Edema, Telangiectasia ORPHA:101028
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hypertension OMIM:613095
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis OMIM:617577
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Hec Syndrome
Polyhydramnios, Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy, Ventricular hypertrophy, Cardiomyopathy OMIM:232400
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Congenital muscular dystrophy, Flexion contracture, Pu... OMIM:253800
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis OMIM:614679
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Camptodactyly of finger ORPHA:2863
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia OMIM:614294
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Increased muscle lipid content, ... OMIM:608836
Childhood-Onset Nemaline Myopathy
Polyhydramnios, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular wingin... ORPHA:171439
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Situs inversus totalis OMIM:616037
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis OMIM:613686
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic steno... OMIM:615355
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis OMIM:606763
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Gastrointestinal hemorrhage, Abnormal tricuspid valve morp... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy OMIM:610505
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Camptodactyly of toe, Marked muscular hypertrophy, Joint contracture of ... OMIM:300280
American Trypanosomiasis
Arrhythmia, Achalasia, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Cardiomyo... ORPHA:3386
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiom... OMIM:242840
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Sudden cardiac death, Congestive heart failure, Pulmonary edema, Dilated ca... ORPHA:73224
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... ORPHA:254892
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Camptodactyly, Ventricular septal defect OMIM:616145
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Ascites, Cardiomegaly, Skeletal muscle atrophy, Cardiomyopathy OMIM:256550
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous pulmonary venous return, Tricuspid atresia, Truncus ... ORPHA:185
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal amyotro... OMIM:164310
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Congestive heart failure, Cardiomegaly, Ascites, Telangiectasia, Ca... OMIM:235200
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dehydration, Edema, Cardiac arrest, Dilated cardiomyopathy ORPHA:20
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension OMIM:203800
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Pulmonic steno... OMIM:306955
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Ragged-re... ORPHA:550
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Tricuspid regurgitation, Edema, Mitral stenosis, Tricuspid va... OMIM:212093
Dextrocardia
Situs inversus totalis, Abnormal heart morphology, T-wave inversion, Dextrocardia, Abnormal EKG ORPHA:1666
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Pulmonar... ORPHA:79282
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelastosis, Right atrial enlarg... OMIM:619313
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoplasia of the musculature, Arrhythmia, High-output congestive heart f... ORPHA:231226
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Sweet Syndrome
Dilated cardiomyopathy, Myositis, Small vessel vasculitis ORPHA:3243
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Cardiomyopathy ORPHA:79312
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Secundum atrial sep... OMIM:616866
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Cardiomyopathy ORPHA:27
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Cardiomyopathy ORPHA:228305
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Beta-Thalassemia Major
Dilated cardiomyopathy, Hypoplasia of the musculature, Arrhythmia, High-output congestive heart f... ORPHA:231214
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Cardiac conduction abnormality, Hypertrophic ca... ORPHA:255210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation OMIM:618929
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Hydrops fetalis, Oligohydramnios, ... ORPHA:99776
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle wea... ORPHA:363623
Johanson-Blizzard Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Edema ORPHA:2315
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal aortic valve morphology, Dextrocardia, ... ORPHA:261197
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial effusion, Fetal ascit... ORPHA:292
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Congestive heart failure, Edema, Bacterial endocarditis ORPHA:1054
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect ORPHA:96097
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolem... ORPHA:158687
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:89842
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hypertension, Dilated cardiomyopathy, Portal hypertension, Vasculitis, Raynaud phenomenon OMIM:615688
Noonan Syndrome 2
Polyhydramnios, Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defe... OMIM:605275
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites,... OMIM:616843
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Abnormal hemidiaphragm morphology ORPHA:2257
Marden-Walker Syndrome
Decreased muscle mass, Camptodactyly, Congenital contracture, Dextrocardia, Joint contracture of ... OMIM:248700
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, De... OMIM:618280
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Tricuspid regurgitation, Abnormal cardiac septum morphology, Tricuspid valve prolapse... ORPHA:2556
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure, Myopathy, C... ORPHA:90970
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral edema, Cardiomyopathy OMIM:618321
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Steinert Myotonic Dystrophy
Polyhydramnios, Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular systolic ... ORPHA:273
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Abnormal heart morphology, Dextrocardia, Tetralogy of Fallot, Contract... ORPHA:96092
Czeizel-Losonci Syndrome
Aplasia of the left hemidiaphragm, Dextrocardia, Posterolateral diaphragmatic hernia ORPHA:2437
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Right ventricular fail... ORPHA:99125
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Congenital diaphragmatic hernia OMIM:313850
Hermansky-Pudlak Syndrome 1
Epistaxis, Cardiomyopathy, Hematochezia OMIM:203300
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Dehydration, Edema, Bradycardia ORPHA:79404
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Xerostomia, Facial palsy, Edema... ORPHA:85448
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Abnormal heart valve mor... ORPHA:289
Joubert Syndrome With Ocular Defect
Dextrocardia ORPHA:220493
Johanson-Blizzard Syndrome
Atrial septal defect, Situs inversus totalis, Anasarca, Ventricular septal defect, Dilated cardio... OMIM:243800
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Palpebral edema, Angi... ORPHA:93672
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Situs inversus totalis, Ventricular ... ORPHA:2461
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormal heart valve morphology, Myopathy, Tetralogy of Fallot, Dilated ... ORPHA:1606
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Congestive heart failure,... OMIM:601808
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:229310
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Dextrocardia, Bicuspid aortic valve, Cer... ORPHA:536545
Distal Monosomy 19P13.3
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Constricting Bands, Congenital
Ectopia cordis OMIM:217100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Joint contractures involving the joints of the feet ORPHA:79408
Monosomy 18Q
Secundum atrial septal defect, Left-to-right shunt, Dysplastic pulmonary valve, Aortic valve sten... ORPHA:1600
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale... OMIM:607872
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Knobloch Syndrome
Dextrocardia ORPHA:1571
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Polyhydramnios, Diastasis recti, Atrial septal defect, Parachute mitral ... OMIM:265380
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Myopathy, Muscle fiber atrophy ORPHA:2388
Limb Body Wall Complex
Diastasis recti, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Ecto... ORPHA:2369
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Flexion contracture, Dextrocardia, Pulmonic sten... OMIM:300166
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia OMIM:136140
Tetrasomy 9P
Patent foramen ovale, Pericarditis, Abnormal mitral valve morphology, Dextrocardia, Pulmonary art... ORPHA:3310
Restrictive Dermopathy
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Arthrogryposis multiplex congenita... ORPHA:1662
Poland Syndrome
Dextrocardia, Atrial septal defect, Aplasia of the pectoralis major muscle, Congenital diaphragma... ORPHA:2911
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Camptodactyly, Dextrocardia, Transposition of the g... OMIM:614976
Floating-Harbor Syndrome
Tetralogy of Fallot, Atrial septal defect, Mesocardia ORPHA:2044
Alström Syndrome
Myocardial fibrosis, Dilated cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary ar... 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 Pdlim3

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 Pdlim3.

No publications found that use IMPC mice or data for Pdlim3.

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
Pdlim3tm88556(L1L2_Bact_P) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter