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Gene: Xirp1 MGI:1333878

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
xin actin-binding repeat containing 1
Synonyms:
Cmya1,  Xin,  mXin alpha

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Xirp1 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 Xirp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr... ORPHA:63273
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1W
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... OMIM:613122
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:615235
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Myofibrillar Myopathy 10
Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno... OMIM:619040
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di... OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, E... OMIM:608099
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef... OMIM:613876
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Distal lower limb muscle weakness, Cardiomyopathy, Leg muscle stiffness ORPHA:320360
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Distal Nebulin Myopathy
Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Weakness of the intrinsi... ORPHA:399103
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus... OMIM:611615
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 28
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... OMIM:619402
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle... OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic even... OMIM:610198
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ... OMIM:615351
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula... OMIM:613874
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Cardiomyopathy, Nemaline bodies, Limb muscle weakness OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa... OMIM:609308
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Scapular winging, Nemaline bodies, First degree atrioventricular bl... OMIM:617336
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Hepatomegaly, Pr... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy OMIM:255100
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle... OMIM:619903
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Myofib... OMIM:609452
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w... OMIM:615352
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Muscle fiber hyaline bodies, Fourth heart sound, Congestive heart fail... OMIM:255160
Myopathy, Distal, 1
Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an... OMIM:160500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a... ORPHA:34515
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird... ORPHA:263494
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:608810
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Cardiomyopathy, Limb-girdle muscle... ORPHA:86812
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Neonatal Lupus Erythematosus
Hepatomegaly, Prolonged QT interval, Heart block, Abnormal heart morphology, Splenomegaly, Arrhyt... ORPHA:398124
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le... ORPHA:45452
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ... OMIM:616827
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction OMIM:618189
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Pericardial effu... ORPHA:26793
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy OMIM:607685
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g... ORPHA:119
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Laing Early-Onset Distal Myopathy
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc... ORPHA:59135
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Hepatomegaly, Prolonged QT interval, Bradycardia, Skeletal muscle hypertrophy... OMIM:613327
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M... OMIM:613155
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome... ORPHA:3092
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,... ORPHA:171439
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Joint contracture, Splenomegaly, Flexion contracture OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ... ORPHA:66634
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Facial palsy, Scapular winging, EMG: myopathic ab... OMIM:612954
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopat... OMIM:618234
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro... OMIM:310200
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Glycogen Storage Disease Iii
Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Myopathy OMIM:232400
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Coronary Arterial Fistula
Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte... ORPHA:2041
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop... ORPHA:329336
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly OMIM:266500
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventri... OMIM:616878
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy, Hypertrophic cardiomyopathy OMIM:618237
Hemochromatosis, Type 2A
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiom... OMIM:602390
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Scapular winging, Facial palsy, Cardiomyopathy, Hand muscle weakness, M... ORPHA:254886
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia ORPHA:324588
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:613561
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb hypertonia, Lower limb muscle weakness ORPHA:1177
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis... OMIM:161800
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila... OMIM:615959
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Cap Myopathy
Lower limb amyotrophy, Sinus tachycardia, Facial palsy, Reduced systolic function, Increased vari... ORPHA:171881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies OMIM:616549
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Ca... OMIM:300280
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,... OMIM:602541
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Congenital Myopathy 4A, Autosomal Dominant
Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m... OMIM:255310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... OMIM:619433
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Second degree atrioventricular block, Ventricular fibrillation, Rhabdomyol... ORPHA:79102
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Prolonged QT interval, EMG: myopathic abnormalities, Arrhythmia, Abnormal EKG ORPHA:480864
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Hemochromatosis, Type 2B
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:613313
Rett Syndrome
Prolonged QTc interval, Skeletal muscle atrophy, Abnormal T-wave OMIM:312750
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Bradycardia, Ventricular hypertrophy, Cardiomyopathy, Cardiac arrest, Premature ven... OMIM:212138
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Pituitary Adenoma 1, Multiple Types
Hypertension, Cardiomyopathy, Left ventricular hypertrophy OMIM:102200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil... ORPHA:352447
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopat... ORPHA:565612
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph... ORPHA:3208
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Cardiac arrest, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Increase... ORPHA:52430
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy ORPHA:228305
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudden cardiac death ORPHA:156
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... ORPHA:272
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Syncope, Palpi... OMIM:170390
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Sudden cardiac deat... OMIM:212350
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro... ORPHA:75249
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Arrhythmia OMIM:606069
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Facial myokymia, Dilated cardiomyopathy, Limb hypertonia OMIM:606703
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:93476
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Flexion contracture, Skelet... OMIM:232500
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Splenomegaly, Dilated cardiomy... OMIM:300842
Gitelman Syndrome
Prolonged QT interval, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Palpitations OMIM:263800
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ... ORPHA:368
Infantile Refsum Disease
Cardiomyopathy, Hepatomegaly, Facial palsy, Arrhythmia ORPHA:772
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis devia... OMIM:232300
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Card... OMIM:258450
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila... OMIM:607155
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v... OMIM:615382
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hypertrophic cardiomyopathy, Generalized amyotrophy, Telangiectasia of the skin, Te... ORPHA:79279
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti... OMIM:620609
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness OMIM:619259
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Flexion contracture, Mitral regu... ORPHA:88630
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy OMIM:618120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Increased variability in muscle fiber ... OMIM:604377
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit... OMIM:212112
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Facial palsy,... ORPHA:31826
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276556
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Prolonged QT interval, Flexion contracture, Camptodactyly OMIM:620029
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyoly... ORPHA:746
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276575
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature OMIM:201470
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations ORPHA:276580
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Skeletal m... OMIM:607598
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Abnormal heart valve morpholog... ORPHA:3287
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Abnormality of skeletal muscle fiber size, Skeletal muscl... ORPHA:2348
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Portal ... ORPHA:465508
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres... ORPHA:466650
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardi... ORPHA:158687
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Congestive heart failure, Atrial flutter, Reduced left ventric... ORPHA:980
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hepatomegaly, Abnormality of skeletal muscle fiber size, Skeletal muscl... ORPHA:79083
Polyarteritis Nodosa
Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Neutral Lipid Storage Myopathy
Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Rimmed vacuoles, Cardiom... ORPHA:98908
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy ORPHA:2394
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia ORPHA:3386
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Ventricular... ORPHA:373
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Hypoglycosylation... ORPHA:370959
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat... ORPHA:363623
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cardiomyopathy, Hypotension, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia ORPHA:159
Refsum Disease
Splenomegaly, Heart block, Cardiomyopathy, Skeletal muscle atrophy ORPHA:773
Harel-Yoon Syndrome
Distal amyotrophy, Hypertrophic cardiomyopathy OMIM:617183
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec... OMIM:615355
Barth Syndrome
Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Skeletal myopathy... OMIM:302060
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Rhabdom... OMIM:614921
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi... ORPHA:99901
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Flexion contract... ORPHA:367
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:79312
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:70472
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal cardiac ventricle morphology, Monoclonal ligh... ORPHA:85443
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Generalized amyotrophy, Cardiomyopathy, Skeletal muscle atrophy, Limb hypertonia OMIM:617710
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability OMIM:105120
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly OMIM:619046
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... OMIM:619705
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function OMIM:618805
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation ORPHA:229
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Splenomegaly, Ventricular septal defect OMIM:616651
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Flexion contracture, Hypertrophic cardiomyopathy OMIM:616897
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage ORPHA:99931
Alg3-Cdg
Arthrogryposis multiplex congenita, Cardiomyopathy, Macroglossia ORPHA:79321
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacu... OMIM:164310
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval ORPHA:79444
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Scapular winging, Rhabdomyolysis, Abnorma... ORPHA:26791
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy OMIM:609015
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:369
Craniofaciofrontodigital Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly... ORPHA:363705
Hyperglycinemia, Lactic Acidosis, And Seizures
Joint contracture, Hypertrophic cardiomyopathy OMIM:614462
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Enlarged kidney, Hepatosplenomegaly, Hypertrophic cardiomyopathy OMIM:619902
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal cardiovascular system physiology, Calf muscle pseudohypertrophy, Hypertens... ORPHA:79086
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly,... OMIM:268800
Pituitary Gigantism
Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:99725
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Cardiomyopathy ORPHA:27
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary... OMIM:620642
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy OMIM:619386
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Facial palsy, Cardiomyo... ORPHA:258
Dpagt1-Cdg
Hepatomegaly, Prolonged QT interval, Camptodactyly, Flexion contracture, Intracranial hemorrhage ORPHA:86309
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy ORPHA:544469
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614582
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Prolonged QT interval, Tachyc... ORPHA:1772
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Ventricular tachycardia, Dilated cardiomyopathy OMIM:615821
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatosplenomegaly ORPHA:353298
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypertension, Prolonged QT interval ORPHA:79443
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Lower limb amyotrophy, Hypertrophic cardiomyopathy ORPHA:496790
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Myopathy OMIM:614922
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Cardiomyopathy, Limb hypertonia OMIM:606054
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Increased variability in muscle fiber diameter, Cardiomeg... OMIM:617022
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Cardiomyopathy, EMG: myopathic abnormalities, Increased intramyocellular lipid drop... ORPHA:98907
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Hepatomegaly, Tachycard... ORPHA:137675
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, Cardiomyopathy, P... ORPHA:93672
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula... OMIM:620152
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Hypertrophic cardiomyopathy OMIM:620167
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:611126
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:254913
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath... OMIM:264800
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ... OMIM:620294
Mitochondrial Complex I Deficiency, Nuclear Type 29
Palpitations, Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Scapular w... ORPHA:500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Pulmonary arterial hypertension OMIM:613320
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular... ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Myopathy ORPHA:157
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Cardiomyopathy, Splenomegaly, Increased muscle lipid content, Myopathy OMIM:610717
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Elbow flexion contracture, Arr... OMIM:608836
Congenital Generalized Lipodystrophy
Congestive heart failure, Hepatomegaly, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy,... ORPHA:528
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:848
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hematochezia, Splenomegaly, Skeletal musc... OMIM:615895
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hypertension, Cardiomyopathy, Punctate vasculitis skin lesions, Rayn... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly ORPHA:228308
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myositis, Vasculitis, Hypertension, Transient ischemic att... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Ven... OMIM:618775
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Cardiomyopathy ORPHA:88618
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Dextrocardia
Situs inversus totalis, Dextrocardia, Abnormal heart morphology, T-wave inversion, Abnormal EKG ORPHA:1666
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopa... OMIM:230500
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:620646
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:1842
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o... ORPHA:576
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:5
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Small hypothenar eminence, Mu... ORPHA:2463
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,... ORPHA:550
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo... OMIM:615415
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Skeletal muscle hyp... ORPHA:280365
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
Usher Syndrome
Abnormal cardiovascular system physiology, Myopathy, Hypertrophic cardiomyopathy ORPHA:886
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c... OMIM:620300
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal heart morphology, Hepatosplenomegaly, Abnormal EKG, Telangiectasia ORPHA:93400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Agel Amyloidosis
Cardiomyopathy, Facial palsy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia ORPHA:85448
Gm1 Gangliosidosis
Congestive heart failure, Cardiomyopathy, Ventricular septal defect, Camptodactyly of finger, Abn... ORPHA:354
Costello Syndrome
Ventricular septal defect, Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pulmonic steno... ORPHA:3071
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont... OMIM:602782
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Flexion contracture, Hypertrophic cardiomyopathy OMIM:619383
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova... OMIM:619343
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hypertrophic cardiomyopathy,... ORPHA:464321
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Hypertension, Cardiomyopathy, Upper limb muscle w... ORPHA:892
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis ORPHA:436271
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure OMIM:605676
Noonan Syndrome 6
Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613224
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Cardiomyopathy OMIM:251000
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... ORPHA:3384
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Friedreich Ataxia
Cardiomyopathy, Hand muscle atrophy ORPHA:95
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg... OMIM:130650
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa... ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa... ORPHA:881
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent... OMIM:616564
Vici Syndrome
Cardiomyopathy ORPHA:1493
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Hypertension, Cardiomyopathy, Cam... ORPHA:93473
Hurler Syndrome
Hepatomegaly, Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Flexion con... OMIM:607014
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardio... ORPHA:758
Congenital Enterovirus Infection
Myocarditis, Pericardial effusion, Cardiomyopathy, Hypotension ORPHA:292
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Hepatomegaly, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hype... OMIM:253200
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Cardiac conduction abnormali... ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased intramyocellular lipid droplets, Hypertrophic cardiomyopathy, Weakness of... OMIM:220110
Mucopolysaccharidosis Type 1
Congestive heart failure, Abnormal aortic valve morphology, Abnormal tendon morphology, Abnormal ... ORPHA:579
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Diastasis recti, Flexion contractu... OMIM:253220
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Aicardi-Goutieres Syndrome 1
Vasculitis, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:225750
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Cardiomyopathy, Aortic regurgitation, Severely reduced left ventricular ejection fr... OMIM:252600
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Diastasis recti, H... OMIM:252500
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion con... OMIM:617303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Noonan Syndrome 7
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:613706
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Wars2-Related Combined Oxidative Phosphorylation Defect
Generalized amyotrophy, Cardiomyopathy, Limb hypertonia ORPHA:572798
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va... OMIM:619745
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:612938
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Abnormal T-wave ORPHA:2131
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp... ORPHA:91387
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy ORPHA:3463
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria... OMIM:309801
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Pul... ORPHA:505248
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Hepatosplenomegaly ORPHA:79255
Vici Syndrome
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dil... OMIM:242840
Noonan Syndrome 4
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:610733
Bohring-Opitz Syndrome
Facial hypotonia, Bradycardia, Bilateral wrist flexion contracture, Congenital contracture, Lower... ORPHA:97297
Isolated Complex I Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal mitochondria in muscle tissue ORPHA:2609
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion ORPHA:416
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Abnor... ORPHA:581
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Splenomegaly OMIM:616084
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr... OMIM:245600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Ragged-red muscle fibers, Patent foramen ovale, Hypertrophic cardiomyopathy, Increa... ORPHA:17
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Cardiomegaly, Macr... OMIM:618143
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis multiplex congenita OMIM:608013
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Flexion contracture OMIM:212065
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy, Camptodactyly, ... OMIM:617403
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic card... OMIM:252010
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal tricuspid valve morphology, Flexion contracture of digit, Abnormal heart v... ORPHA:580
Noonan Syndrome 2
Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Ventricular septal defect, H... OMIM:605275
Leopard Syndrome 1
Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bundle b... OMIM:151100
Mucopolysaccharidosis Type 2, Severe Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217085
Abetalipoproteinemia
Congestive heart failure, Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy ORPHA:14
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension, Cardiomyopath... ORPHA:217093
Cartilage-Hair Hypoplasia
Heart block, Hepatomegaly, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:175
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Fucosidosis
Hepatomegaly, Generalized amyotrophy, Splenomegaly, Flexion contracture, Cardiomegaly, Macroglossia OMIM:230000
Hereditary Spherocytosis
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly ORPHA:822
Noonan Syndrome
Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:648
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Congenital Tracheomalacia
Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou... ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Hypocalcemic Vitamin D-Dependent Rickets
Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:289157
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Hepatomegaly, Generalized muscular appearance from birth, Splenomegaly OMIM:608594
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Hepatomegaly, Portal hypertension, Hypertrophic cardiomyopathy, Splenomegaly ORPHA:309854
Aicardi-Goutières Syndrome
Myositis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Raynaud phenomenon, Cardiomegaly, Mult... ORPHA:51
Singleton-Merten Syndrome 1
Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Tendon rupture, Musc... OMIM:182250
Rabson-Mendenhall Syndrome
Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Enlarged ovaries, Macroglossia ORPHA:769
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy OMIM:615398
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Failure to thrive, Mitral valve prolapse, Ventricular se... ORPHA:444072
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Flexion contracture of toe, Elbow flexion contracture, Ca... OMIM:256040
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Limb hypertonia, Patent foramen ovale, Retinal hemorrhage, Tricuspid regurgi... OMIM:620371
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Torticollis, ... OMIM:300855
Leigh Syndrome
Congestive heart failure, Ventricular septal defect, Hypertrophic cardiomyopathy, Skeletal muscle... ORPHA:506
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy OMIM:618329
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... OMIM:609942
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Congestive heart failure, Tricuspid regurgitation ORPHA:508542
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Macroglossia, Ventricular septal defect, Hepatomegaly ORPHA:96191
Cockayne Syndrome Type 3
Hepatomegaly, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Flexion contracture, ... ORPHA:90324
Toriello-Carey Syndrome
Pulmonic stenosis, Cardiomyopathy, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3338
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis ORPHA:79430
Lipodystrophy, Congenital Generalized, Type 2
Ventricular septal hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Generali... OMIM:269700
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy... OMIM:615846
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgita... OMIM:617506
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Enlarged kidney, Hepatomegaly, Leiomyosarcoma,... ORPHA:116
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:33364
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure ORPHA:73224
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Hypertrophic cardiomyopathy OMIM:124000
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ... ORPHA:51608
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid... ORPHA:2556
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy OMIM:616539
Castleman Disease
Restrictive cardiomyopathy ORPHA:160
Postinfectious Vasculitis
Ischemic stroke, Bacterial endocarditis, Hypertension, Cardiomyopathy, Vasculitis in the skin, Ra... ORPHA:48435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Cardiofaciocutaneous Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Atrial septal defect, Hypertrophic cardiomyop... ORPHA:1340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:607721
Cardiofaciocutaneous Syndrome 1
Pulmonic stenosis, Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy OMIM:115150
Tyrosinemia, Type I
Enlarged kidney, Hepatomegaly, Gastrointestinal hemorrhage, Melena, Hypertrophic cardiomyopathy, ... OMIM:276700
Multiple Endocrine Neoplasia Type 1
Hematemesis, Hypertension, Shortened QT interval, Melena ORPHA:652
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:620376
Oculoectodermal Syndrome
Atrial septal defect, Transient ischemic attack, Hypertrophic cardiomyopathy OMIM:600268
Camurati-Engelmann Disease
Hepatomegaly, Facial palsy, Hypertrophic cardiomyopathy, Splenomegaly, Skeletal muscle atrophy ORPHA:1328
Zimmermann-Laband Syndrome 1
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:135500
Pearson Syndrome
Hepatomegaly, Cardiomyopathy, Abnormal heart morphology, Cardiac conduction abnormality, Splenome... ORPHA:699
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy ORPHA:369837
Costello Syndrome
Rhabdomyosarcoma, Ventricular septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Achi... OMIM:218040
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand muscle atrophy, Bicuspid aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Hand muscle atrophy, Bicuspid aorti... ORPHA:363958
Yunis-Varon Syndrome
Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Tetralo... ORPHA:3472
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid... ORPHA:904
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Enlarged ova... ORPHA:508
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Transposition of the great arteries, Hepatomega... OMIM:312870
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mi... OMIM:220111
African Trypanosomiasis
Myocarditis, Congestive heart failure, Pericarditis, Weight loss, Arrhythmia, Third degree atriov... ORPHA:3385
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Systolic heart murmur, Dilatation of... OMIM:619991
Acromegaly
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Bardet-Biedl Syndrome
Hypertension, Abnormal heart morphology, Cardiomyopathy, Skeletal muscle atrophy ORPHA:110
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:363700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Diastasis recti, Ventricular septal defect, Camptodactyly, Hypertrophic cardiomyopa... ORPHA:96334
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Splenomegaly, ... OMIM:270400
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertension, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Pul... ORPHA:97685
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ... OMIM:607872
Noonan Syndrome 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:163950
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Yunis-Varon Syndrome
Patent foramen ovale, Cardiomyopathy, Pulmonary arterial hypertension, Tetralogy of Fallot, Heart... OMIM:216340
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Ventricular septal defect, Hyp... OMIM:601803
Pmm2-Cdg
Angina pectoris, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Intracranial he... ORPHA:79318

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 Xirp1

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 Xirp1.

No publications found that use IMPC mice or data for Xirp1.

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MGI Allele Allele Type Produced
Xirp1em1(IMPC)Ics Deletion Mice

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