Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I)
Synonyms:
PP2B beta 1,  Cnb1,  CaNB1

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 Ppp3r1 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 Ppp3r1 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, 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
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
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
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
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
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
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
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia OMIM:605676
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial necrosis, Myocardial fibrosis, Wolff-Parkins... OMIM:300257
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy OMIM:614582
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy ORPHA:3400
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Ventricular hypertrophy OMIM:619048
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, Congest... ORPHA:324604
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ventricul... ORPHA:422
Immune-Mediated Necrotizing Myopathy
Palpitations, EMG: myopathic abnormalities, Scapular winging, Proximal muscle weakness in lower l... ORPHA:206569
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
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Congestive heart failure, Cardiomegal... OMIM:212140
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, W... ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Cardiomyopathy OMIM:300842
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Pelvic girdle mu... OMIM:607155
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Left ventri... OMIM:619167
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Flexion contracture, Abnormal aortic valve morphology, Abnor... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Sandhoff Disease
Congestive heart failure ORPHA:796
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Complete atrioventricular canal de... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy OMIM:231530
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonic stenosis, Congestive heart failure, Pulmonary arterial hyperten... ORPHA:2414
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Atransferrinemia
Congestive heart failure OMIM:209300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Congestive heart failure, Skeletal muscle ... ORPHA:367
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Congestive heart failure, Generalized amyotrophy, Rimmed vacuoles, ... ORPHA:52430
Alg1-Cdg
Hypertrophic cardiomyopathy ORPHA:79327
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
American Trypanosomiasis
Arrhythmia, Achalasia, Congestive heart failure, Myocarditis, Cardiomyopathy ORPHA:3386
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Atri... ORPHA:398124
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy OMIM:614096
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon ... ORPHA:85446
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy, Cardiomyopathy OMIM:201470
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Internal hemorrhage, Abnormal tricuspid valve ... ORPHA:90308
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Cardiomegaly, Telangiectasia, Cardiomyopathy OMIM:235200
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Rhabdomyolysis, Congestive heart failure, Dilated cardiomyopathy, Myopathy OMIM:609015
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hypertrophic c... OMIM:230500
Infantile Sialic Acid Storage Disease
Congestive heart failure, Cardiomegaly OMIM:269920
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Cardiomegaly, Myocardial fibrosis OMIM:253250
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Cednik Syndrome
Congestive heart failure ORPHA:66631
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Double out... ORPHA:2326
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Facial hypotonia, Decreased muscle mass, Atrial septal defect ORPHA:500533
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Neutral Lipid Storage Disease With Myopathy
Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac... OMIM:614921
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure, Myopathy, C... ORPHA:90970
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Left ... OMIM:301500
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure,... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Congestive heart failure, Abnormality of skeletal muscle fiber size,... ORPHA:2348
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Congestive heart failure, Flexion contracture ORPHA:261519
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Cardiomegaly, Cardiomyopathy OMIM:617713
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiom... OMIM:242840
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy, Ventricular hypertrophy, Cardiomyopathy OMIM:232400
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hypertension,... ORPHA:183
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Scapular winging, Increased intramyocellular lipid droplets, Abnormal heart morpholog... ORPHA:26791
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous pulmonary venous return, Tricuspid atresia, Truncus ... ORPHA:185
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Bacterial endocarditis, Aortic regurgitation ORPHA:1054
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
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
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Decreased muscle mass, Elevated jugular venous pressure, Congestive heart failure, Ca... ORPHA:465508
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal amyotro... OMIM:164310
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Heart murmur, Shorten... ORPHA:308552
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Increased muscle lipid content, Cardiomegaly, Kne... OMIM:608836
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:229310
Combined Oxidative Phosphorylation Deficiency 3
Patent foramen ovale, Rhabdomyolysis, Patent ductus arteriosus, Concentric hypertrophic cardiomyo... OMIM:610505
African Iron Overload
Congestive heart failure, Abnormal heart morphology, Hepatic periportal necrosis ORPHA:139507
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Aortopulmonary window, Patent ductus arteriosus,... ORPHA:99050
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... ORPHA:254892
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Camptodactyly, Congestive heart failure, Right bundle branch block, Hypertr... OMIM:617403
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Epistaxis, Congestive heart failure, Cerebral ischemia, High-output co... ORPHA:137667
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension OMIM:203800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:601992
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Abnormal echocardiogram, Intrinsic hand muscle atrophy, Weakness of the intrins... OMIM:302900
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, Mus... OMIM:258450
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Hyperkalemic Periodic Paralysis
Arrhythmia, Skeletal muscle hypertrophy, Flexion contracture, Congestive heart failure, Skeletal ... ORPHA:682
Tubular Renal Disease-Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy ORPHA:73224
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Ragged-re... ORPHA:550
Malignant Hyperthermia Of Anesthesia
Abnormality of masseter muscle, Ventricular extrasystoles, Exercise-induced rhabdomyolysis, Ventr... ORPHA:423
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Ventricular septal defect, Abnormal heart morphology, Pate... ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Left ventricular hypertrophy OMIM:619355
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Constrictive pericarditis, Abnormal pericardium morphology ORPHA:67
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... OMIM:601808
Aarskog-Scott Syndrome
Camptodactyly of finger, Congestive heart failure ORPHA:915
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Skeletal muscle hypertrophy, Muscle hypertro... ORPHA:280365
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoplasia of the musculature, Arrhythmia, High-output congestive heart f... ORPHA:231226
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Atrial septal defect, Flexion contracture, Patent ductus arteriosus, Congestive hea... OMIM:617303
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Hypertension, Aorti... ORPHA:363618
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vascu... ORPHA:727
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Macroglossia, Congestive heart failure, Flexion contracture OMIM:309900
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Flexion cont... ORPHA:505248
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormal aortic valve morphology, Congestive heart failure, Abno... ORPHA:579
Beta-Thalassemia Major
Dilated cardiomyopathy, Hypoplasia of the musculature, Arrhythmia, High-output congestive heart f... ORPHA:231214
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Pulmonic stenosis, Aortic valve stenosis, Hypertrophi... OMIM:615415
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Skeletal muscle atrophy, Abnormal heart morphology OMIM:608779
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Congestive heart failure, P... ORPHA:220393
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Cardiac conduction abnormality, Hypertrophic ca... ORPHA:255210
Monosomy 18Q
Secundum atrial septal defect, Patent ductus arteriosus, Left-to-right shunt, Dysplastic pulmonar... ORPHA:1600
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Decreased muscle mass, Congestive heart failure, Arteri... ORPHA:1900
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Sweet Syndrome
Dilated cardiomyopathy, Myositis, Small vessel vasculitis ORPHA:3243
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Geleophysic Dysplasia 1
Camptodactyly of finger, Tricuspid stenosis, Aortic valve stenosis, Congestive heart failure, Wri... OMIM:231050
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Cardiomyopathy ORPHA:228305
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Right ventricular dilatation ORPHA:369847
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Aortic regurgitation, Heart murmur, Congestive heart failure, Card... OMIM:252500
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epistaxis, Abn... ORPHA:774
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest ORPHA:20
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Glycogen Storage Disease Iv
Portal hypertension, Arthrogryposis multiplex congenita, Cardiomyopathy, Skeletal muscle atrophy OMIM:232500
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure ORPHA:525731
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Noncompaction cardiomyopathy, Tricuspid regurgitation ORPHA:508542
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,... ORPHA:3260
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle wea... ORPHA:363623
Seckel Syndrome 10
Congestive heart failure, Ventricular hypertrophy, Hypertension OMIM:617253
Weill-Marchesani Syndrome 2
Ventricular septal defect, Flexion contracture of toe, Patent ductus arteriosus, Pulmonic stenosi... OMIM:608328
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Pulmonary embolism, Pulmo... ORPHA:79282
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Multiple joint contractures, Skeletal muscle... ORPHA:506
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hypertension, Dilated cardiomyopathy, Portal hypertension, Vasculitis, Raynaud phenomenon OMIM:615688
Ethylene Glycol Poisoning
Hypotension, Renal tubular epithelial necrosis, Atrial fibrillation, Hypertension, Congestive hea... ORPHA:31826
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypertension, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hy... ORPHA:1830
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:89842
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Tetrasomy 5P
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murm... ORPHA:3309
Triosephosphate Isomerase Deficiency
Myopathy, Congestive heart failure, Skeletal muscle atrophy OMIM:615512
Autosomal Recessive Cutis Laxa Type 1
Supravalvular aortic stenosis, Abnormal cardiac ventricular function, Congestive heart failure, D... ORPHA:90349
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Tricuspid regurgitation, Abnormal cardiac septum morphology, Tricuspid valve prolapse... ORPHA:2556
Erdheim-Chester Disease
Congestive heart failure, Abnormal aortic valve morphology, Abnormal pericardium morphology ORPHA:35687
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Telangiectasia of the skin, Pulmonary embolism, Congestive heart fai... ORPHA:2346
Kawasaki Disease
Arrhythmia, Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Double outle... ORPHA:2331
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Steinert Myotonic Dystrophy
Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular systolic dysfunction, Atr... ORPHA:273
Avian Influenza
Congestive heart failure, Rhabdomyolysis ORPHA:454836
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Werner Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Skelet... ORPHA:902
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage ORPHA:33226
Aceruloplasminemia
Torticollis, Congestive heart failure ORPHA:48818
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Card... OMIM:182250
Abetalipoproteinemia
Distal lower limb muscle weakness, Myopathy, Congestive heart failure, Cardiomegaly ORPHA:14
Marfan Syndrome
Decreased muscle mass, Aortic regurgitation, Camptodactyly, Flexion contracture, Tricuspid regurg... OMIM:154700
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Diamond-Blackfan Anemia 1
Atrial septal defect, Tricuspid stenosis, Congestive heart failure, Ventricular septal defect OMIM:105650
Listeriosis
Endocarditis, Arteritis, Pericarditis, Rhabdomyolysis, Congestive heart failure, Myocarditis ORPHA:533
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormal heart valve morphology, Patent ductus arteriosus, Myopathy, Abn... ORPHA:1606
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Tela... ORPHA:93672
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, Congestive heart failure, Renovascular hypertension, Patent fora... ORPHA:391487
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect, Patent ... ORPHA:444077
Incontinentia Pigmenti
Camptodactyly of finger, Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia,... ORPHA:464
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Arterial rupture OMIM:225400
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Macroglossia, Arrhythmia, Flexion contracture of finger, Flexion contrac... OMIM:256040
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Renal tubular epithelial necrosis, Bradycardia ORPHA:79404
Marfan Syndrome
Mitral valve calcification, Mitral valve prolapse, Congestive heart failure, Skeletal muscle atrophy ORPHA:558
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale... OMIM:607872
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Joint contractures involving the joints of the feet ORPHA:79408
Williams Syndrome
Abnormal endocardium morphology, Mitral regurgitation, Patent ductus arteriosus, Cerebral ischemi... ORPHA:904
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Spontaneous, recurrent epistaxi... OMIM:610655
Carney Complex
Congestive heart failure, Cardiac myxoma, Hypertension associated with pheochromocytoma ORPHA:1359
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Primary Sclerosing Cholangitis
Spider hemangioma, Generalized amyotrophy, Congestive heart failure, Palmar telangiectasia, Porta... ORPHA:171
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Myopathy, Muscle fiber atrophy ORPHA:2388
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Atypical Werner Syndrome
Calf muscle hypertrophy, Hypertension, Telangiectasia of the skin, Aortic valve stenosis, Congest... ORPHA:79474
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Atrial septal defect, Situs inversus totalis, Ventricular septal defect OMIM:243800
African Trypanosomiasis
Arrhythmia, Pericarditis, Congestive heart failure, Third degree atrioventricular block, Second d... ORPHA:3385
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, High-output congest... OMIM:187300
Parkes Weber Syndrome
Subarachnoid hemorrhage, Lower limb muscle weakness, Muscle hypertrophy of the lower extremities,... ORPHA:90307
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 Ppp3r1

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 Ppp3r1.

No publications found that use IMPC mice or data for Ppp3r1.

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MGI Allele Allele Type Produced
Ppp3r1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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