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 5
Synonyms:
Enh2,  Enh,  1110001A05Rik,  Enh3

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 Pdlim5 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 Pdlim5 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
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
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, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
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
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Flexion contracture, Calf muscle hypertrophy, Cen... OMIM:611705
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, F... ORPHA:171442
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Cardiomegaly, EMG: myop... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... OMIM:619424
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia ORPHA:324588
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia OMIM:300696
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failure, Arr... OMIM:602390
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation OMIM:613690
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Ethanolaminosis
Cardiomegaly OMIM:227150
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Calf muscle... OMIM:310200
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... ORPHA:98911
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, E... OMIM:161800
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia OMIM:615084
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle OMIM:255100
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Increased var... ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:98853
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Hepatosplenomegaly, Rhabdo... OMIM:300842
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Type 1 fibers relatively smaller th... OMIM:255310
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... ORPHA:272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... ORPHA:263297
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... OMIM:607155
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... OMIM:115197
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function OMIM:618805
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Hepatomega... ORPHA:732
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... OMIM:613155
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Left ventricular systolic dysfunction... OMIM:619167
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure OMIM:618234
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte m... ORPHA:367
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction OMIM:145350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Systolic he... ORPHA:2041
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy OMIM:615352
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Mitral regurgi... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee flexion c... OMIM:612954
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Atrioventricular block, Abnormal hea... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... OMIM:619433
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension ORPHA:401923
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Cong... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... ORPHA:119
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Rhabdomyolysis, Arrhythmia OMIM:609015
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Abnormal heart v... OMIM:230500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... OMIM:212140
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, ... ORPHA:860
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Ventricular hypertrophy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Hemochromatosis, Type 2B
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:613313
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension,... OMIM:614921
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... OMIM:608836
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Facial palsy, EMG: myop... OMIM:164310
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:613673
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic eventration,... ORPHA:66634
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Early-Onset Schizophrenia
Unhappy demeanor, Suicidal ideation, Irritability, Anhedonia, Emotional lability, Diminished moti... ORPHA:96369
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly ORPHA:93476
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, En... OMIM:615382
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Congenital muscular dystrophy... OMIM:253800
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... ORPHA:1457
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Cardiomyopathy, Ab... ORPHA:329336
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Cardiomyopathy, Muscle fi... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Hepatomegaly, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Pat... OMIM:610505
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, Ventricula... ORPHA:254892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Generalized amyotrophy, Ca... OMIM:258450
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... ORPHA:70474
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... OMIM:300280
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Dysplastic aortic valve, Endocarditi... ORPHA:3093
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Hemochromatosis, Type 4
Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture OMIM:616549
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Increased muscle lipid content, Coronary artery stenosis, Skeletal myopathy, Palpit... ORPHA:565612
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Abno... ORPHA:550
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... OMIM:609286
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Congestive heart failur... OMIM:235200
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Congestive heart failure OMIM:203800
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Splenomegaly, Hepatosplenomegaly, High-output congestive heart failure, H... ORPHA:231226
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Systolic h... ORPHA:99104
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Cardiomyopathy, Arthrogryposis multiplex congenita, Muscle fiber atrophy,... OMIM:616866
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Telangiectasia of... ORPHA:3342
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... ORPHA:268
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, Cardiomyopathy, Rimmed vacuoles, EMG: myopathic abnormalities, Congestive... ORPHA:52430
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myopathy, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia ORPHA:228305
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:226100
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, High-output congestive he... ORPHA:231214
American Trypanosomiasis
Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Achalasia, Congestive heart failure, Arr... ORPHA:3386
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... OMIM:618652
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Congestive heart failure, Sudden cardiac death ORPHA:73224
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Card... ORPHA:255210
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Pulmonic s... OMIM:615415
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Hepatosplenomegaly, ... OMIM:232500
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Car... ORPHA:308552
Infantile Refsum Disease
Cardiomyopathy, Hepatomegaly, Facial palsy, Arrhythmia ORPHA:772
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Splenomegaly, Congestive hea... ORPHA:90970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Cardiomegaly, Sudden cardia... OMIM:201475
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis, Myositis ORPHA:3243
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Arrhythmia OMIM:255120
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... ORPHA:746
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hepatomegaly, Cardiac arrest, Hypotension ORPHA:20
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Di... ORPHA:363623
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Myocardial eosinophilic... ORPHA:3260
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndr... OMIM:232300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Hepatosplen... OMIM:615688
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Limb muscle weakness OMIM:619259
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia OMIM:530000
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Restrictive c... OMIM:264800
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:89842
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... ORPHA:980
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... ORPHA:465508
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Hepatomegaly, Biventri... OMIM:619573
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... ORPHA:79282
Neutral Lipid Storage Myopathy
Hepatomegaly, Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weaknes... ORPHA:98908
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Mitral regurgitation,... ORPHA:2556
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Hypotension ORPHA:159
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Atrial fibrillati... ORPHA:273
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Hepatomegaly, Cardiomyopathy, Abnormal cardiovascular system physiology, ... ORPHA:79086
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Myopathy, Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, ... ORPHA:98907
Sickle Cell Anemia
Hypertension, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle branch blo... ORPHA:93672
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Ventricular tachycardia, Atrioventr... ORPHA:137675
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Mus... OMIM:229310
1P36 Deletion Syndrome
Dilated cardiomyopathy, Telangiectasia, Myopathy, Abnormal heart valve morphology, Tetralogy of F... ORPHA:1606
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Facial hypotonia, EMG: myo... ORPHA:365
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Choreoacanthocytosis
Dilated cardiomyopathy, Peroneal muscle atrophy, Myopathy, Hepatomegaly, Splenomegaly, Muscle fib... ORPHA:2388
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Joint contractures involving the joints of the feet, Flexion contracture ORPHA:79408
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... OMIM:607872
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Distal lower limb... ORPHA:892
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... ORPHA:99125
Beckwith-Wiedemann Syndrome
Hepatomegaly, Macroglossia, Cardiomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia... OMIM:130650
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atrial septal defect OMIM:243800
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Muscle fib... OMIM:182250
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly... 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 Pdlim5

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 Pdlim5.

No publications found that use IMPC mice or data for Pdlim5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pdlim5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdlim5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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