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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, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death 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, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... ORPHA:26793
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Increased muscle lipid content, Myopathy, Hepatomegaly OMIM:610717
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... OMIM:612954
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... OMIM:602390
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618237
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98853
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... ORPHA:171881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98863
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy OMIM:613313
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... ORPHA:565612
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... ORPHA:521411
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block OMIM:530000
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Hepatomegaly OMIM:606069
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Limb-girdle muscle weakness, Myopathy ORPHA:1215
Hurler-Scheie Syndrome
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly ORPHA:93476
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomy... OMIM:300842
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly ORPHA:772
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... ORPHA:1194
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly OMIM:269920
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradycardia, Arrhythm... ORPHA:330001
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Nephronophthisis 16
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... OMIM:615382
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca... ORPHA:79279
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... OMIM:604377
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276556
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... ORPHA:746
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Flexion contracture, Camptodactyly OMIM:620029
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276575
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis ORPHA:94089
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ... ORPHA:2348
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276580
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu... ORPHA:79083
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly ORPHA:2394
Noonan Syndrome 8
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:615355
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia ORPHA:3386
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly ORPHA:773
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy OMIM:618241
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Neutral Lipid Storage Myopathy
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... ORPHA:98908
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology ORPHA:70472
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy OMIM:300438
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Cardiomyopathy, Hepatomegaly ORPHA:79312
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia OMIM:617710
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy OMIM:619046
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis ORPHA:79444
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly OMIM:616651
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Rhabdomyolysis... ORPHA:26791
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:369
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly OMIM:619902
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Cardiomyo... ORPHA:79086
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy OMIM:619386
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Hepatomegaly ORPHA:27
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Calcinosis ORPHA:79443
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy ORPHA:544469
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy, Hepatomegaly OMIM:614922
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia OMIM:606054
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Flexion contracture, Intracranial hemorrhage, Camptodactyly ORPHA:86309
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatosplenomegaly ORPHA:353298
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest OMIM:620167
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Isolated Atp Synthase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellul... ORPHA:98907
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Hypertrophic c... ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Beta-Thalassemia
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:848
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy ORPHA:88618
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:1842
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615415
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:5
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly OMIM:251000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia ORPHA:93400
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology ORPHA:886
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas... ORPHA:354
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis ORPHA:436271
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Pulmonic stenosis, Atrial septal defe... OMIM:605275
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... OMIM:616564
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy ORPHA:95
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Vici Syndrome
Cardiomyopathy ORPHA:1493
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome... ORPHA:93473
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Hypoplastic le... ORPHA:99226
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... OMIM:607014
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension ORPHA:292
Aicardi-Goutieres Syndrome 1
Splenomegaly, Cardiomyopathy, Vasculitis, Hepatomegaly OMIM:225750
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Weakness of facial musculature, Hypertrophic cardiomyopathy, Increased intramyocellular lipid dro... OMIM:220110
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... OMIM:253200
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... OMIM:253220
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H... ORPHA:255210
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Atrial s... OMIM:617303
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Cardiomyopathy ORPHA:264580
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo... ORPHA:579
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Limb hypertonia ORPHA:572798
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy ORPHA:3463
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy OMIM:616084
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Hepatosplenomegaly ORPHA:79255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hepatomegaly, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly... ORPHA:17
Isolated Complex I Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue ORPHA:2609
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita OMIM:608013
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Pericardial effusion, Flexion contracture, Cardiomyopathy OMIM:212065
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr... OMIM:252010
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Hereditary Spherocytosis
Splenomegaly, Restrictive cardiomyopathy, Hepatomegaly ORPHA:822
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia OMIM:614052
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Cartilage-Hair Hypoplasia
Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, ... ORPHA:175
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Lipodystrophy, Congenital Generalized, Type 1
Splenomegaly, Cardiomyopathy, Generalized muscular appearance from birth, Hepatomegaly OMIM:608594
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face ORPHA:309854
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... OMIM:182250
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect ORPHA:769
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy OMIM:615398
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Failur... ORPHA:444072
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... OMIM:256040
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Inflamm... ORPHA:221
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy OMIM:618329
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Ogden Syndrome
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... OMIM:300855
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly OMIM:613673
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Toriello-Carey Syndrome
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis ORPHA:3338
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly ORPHA:96191
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... ORPHA:90324
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Generalized muscular appearance from birth, Ventricular septal hypert... OMIM:269700
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis ORPHA:79430
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... ORPHA:116
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Hematochezia, Hyperten... OMIM:615846
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:33364
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Hypertrophic cardiomyopathy, Ragged-red muscle fibers OMIM:124000
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Hypertrophic cardiomyopathy OMIM:616539
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... ORPHA:48435
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Castleman Disease
Restrictive cardiomyopathy ORPHA:160
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Enl... OMIM:276700
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Oculoectodermal Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack OMIM:600268
Multiple Endocrine Neoplasia Type 1
Melena, Hypertension, Shortened QT interval, Hematemesis ORPHA:652
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:1328
Pearson Syndrome
Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Abnormal heart morphology, Cardiomyop... ORPHA:699
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Abnormal heart morphology ORPHA:369837
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... OMIM:218040
Zimmermann-Laband Syndrome 1
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:135500
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Hypertrophic cardiomyopathy, Enlarged ki... ORPHA:508
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Weight loss, Second degree atr... ORPHA:3385
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Acromegaly
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:963
Somatomammotropinoma
Macroglossia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy ORPHA:314769
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Fanconi Anemia
Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Atrial septal defect, Hyper... ORPHA:84
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Renovascular hypertension, Abnormal heart morpholog... ORPHA:97685
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypertension, Atrial septal defect, Hypert... OMIM:270400
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Noonan Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis 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
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he... ORPHA:79318
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Ca... OMIM:601803

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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