Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
UV radiation resistance associated gene
Synonyms:
Uvragl,  9530039D02Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Uvrag 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 Uvrag by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities, Cardiomyopathy,... OMIM:608099
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Mildly elevated creatine kinase,... OMIM:614065
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Rimmed vacuoles,... OMIM:300696
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Calf musc... OMIM:300376
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular... OMIM:612999
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:604286
Distal Myotilinopathy
Elevated circulating creatine kinase concentration, Abnormal muscle fiber myotilin, EMG: myopathi... ORPHA:98911
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardi... OMIM:255100
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Flexion c... OMIM:609308
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Autophagic vacuoles, Facial diplegia, Cardiom... ORPHA:399058
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentrat... OMIM:608810
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Elevated circulating c... OMIM:160500
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Elevated circula... OMIM:255160
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Ventricular hypertrophy, Atrial fibrillation OMIM:613690
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Azoospermia, Cardiomyopathy, Arthritis, Splenomegaly, Incre... OMIM:602390
Myopathy, Myofibrillar, 4
Elevated circulating creatine kinase concentration, Autophagic vacuoles, EMG: myopathic abnormali... OMIM:609452
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conce... ORPHA:34515
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Elevated circulating creatine kinase concentration, Macroglossia, Facial palsy, Cardiomyopathy, C... OMIM:613155
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Immune-Mediated Necrotizing Myopathy
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis... ORPHA:206569
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Elevated circulating creatine... OMIM:616827
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Hypoglyco... OMIM:615352
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, Palpitations, Ventricular tachycardia, Ven... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated creatine kinase ... ORPHA:263494
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Elevated circulating cre... ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Elevated circulating creatine kinase conc... OMIM:610717
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Rimmed vacu... OMIM:612937
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Atrioventricu... OMIM:115197
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Facial palsy, Ge... OMIM:612954
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopath... OMIM:619424
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture, Elev... OMIM:300718
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration ORPHA:154
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiom... OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Hemochromatosis, Type 2B
Hepatomegaly, Cardiomyopathy, Splenomegaly, Increased circulating ferritin concentration, Congest... OMIM:613313
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Congestive heart failure OMIM:618234
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... ORPHA:86812
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Calf... ORPHA:98896
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, Mildly elevated creatine kinase... ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... ORPHA:2041
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Facial pals... OMIM:602541
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... ORPHA:767
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Ventricular hypertrop... OMIM:232400
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase concentration, Card... ORPHA:119
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscu... OMIM:310200
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia, Patent ductus arteriosus OMIM:616276
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
American Trypanosomiasis
Myocarditis, Hepatomegaly, Infectious encephalitis, Cardiomyopathy, Splenomegaly, Achalasia, Cong... ORPHA:3386
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Elevated circulating creatine kina... OMIM:600649
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Hepatomega... ORPHA:732
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Increased circulating ferritin concentration, Osteoarthritis, Arrhy... OMIM:606069
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Abnormal QRS complex, Ventricular septal defect, Abnormality of blood circulation, ... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo... OMIM:619433
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy OMIM:614096
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kin... ORPHA:262
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Hemochromatosis, Type 1
Telangiectasia, Hepatomegaly, Azoospermia, Cardiomegaly, Cardiomyopathy, Splenomegaly, Increased ... OMIM:235200
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid arthritis, Skin r... ORPHA:85414
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Abnormal mitochondrial morphology OMIM:618378
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinase co... ORPHA:254886
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Re... OMIM:212140
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Rheumatic Fever
Myocarditis, Sinusitis, Aplasia/Hypoplasia of the abdominal wall musculature, Pericarditis, Endoc... ORPHA:3099
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Elevated circulating creatine kinase conce... OMIM:300842
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Elevated circulating creat... OMIM:258450
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Bacterial endocarditis... ORPHA:99095
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis, Congenital finger flexion contractures, Wrist flexion contr... OMIM:208250
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Elevated circulating creatine kinase concentration, Ventricular hypertrophy... OMIM:300280
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Patent du... OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology ORPHA:93476
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... ORPHA:3287
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Bradycardia, Cardiomyopathy, Con... OMIM:261740
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Prolonged... ORPHA:231111
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:604377
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... ORPHA:276556
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Hemochromatosis, Type 3
Arthritis, Increased circulating ferritin concentration, Cardiomyopathy OMIM:604250
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Arthritis, Splenomegaly, Skin rash, Elevated ... ORPHA:829
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Desminopathy
Concentric hypertrophic cardiomyopathy, Weakness of facial musculature, Atrioventricular block, C... ORPHA:98909
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, M... OMIM:161800
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Increased muscle lipid content, Coronary arte... ORPHA:565612
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, El... OMIM:201475
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:613673
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Congestive heart failure, Splenomegaly ORPHA:163596
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormality of serum cytokine level, Pulmonary arterial hypertension, Arthritis, Art... ORPHA:464343
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:615084
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... ORPHA:276575
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia ORPHA:324588
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hypoalbuminemia, Reduced systolic function OMIM:618805
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Eleva... ORPHA:352447
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Sinusitis, Tubulointerstitial nephritis, ... ORPHA:183
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Increased C-peptid... ORPHA:276580
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy OMIM:212350
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:615382
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Cardiomyopathy, Ab... ORPHA:329336
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Cystic acne, Increased circulating interleukin 6, Panniculitis, Acne inve... OMIM:608068
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Elevated circulating creatine kinase concentra... ORPHA:81
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Arrhythmia OMIM:255120
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Ventricular hyper... OMIM:617321
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Elevated circulating creatine... ORPHA:268
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Cardiomyopathy, Rimme... ORPHA:52430
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Congenital Enterovirus Infection
Myocarditis, Infectious encephalitis, Pericardial effusion, Hepatitis, Cardiomyopathy, Skin rash,... ORPHA:292
Thymic Tumor
Dysgammaglobulinemia, Cardiac arrest, Pericarditis ORPHA:100100
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly OMIM:269920
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated c... ORPHA:368
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Pancreatitis, Elevated circulating creatine kinase ... OMIM:619386
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myopathy, Elevated circulating creatine kinase concentration, Ventricular hypertrop... ORPHA:228305
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Splenomegaly, Skin rash, Hypotension ORPHA:83317
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Sinusitis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulat... ORPHA:36234
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Patent ductus arteriosus, Atria... OMIM:618652
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Fasciitis, Raynaud phenomenon, Transient ischemi... ORPHA:801
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly OMIM:246900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ma... ORPHA:308552
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Flexion contracture OMIM:614462
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Lymphadenitis, Cardiomegaly, Increased circulating ferritin co... OMIM:618886
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Cardiomegaly, Perimembranou... ORPHA:1457
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Infectious encephalitis, Abnormal aortic valve morphol... ORPHA:1194
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... ORPHA:1677
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Perica... ORPHA:781
Simple Cryoglobulinemia
Viral hepatitis, Hypertension, Pericarditis, Monoclonal immunoglobulin M proteinemia, Abnormal he... ORPHA:91139
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Arrhythmia, Hypotension ORPHA:188
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal atri... ORPHA:324410
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Elevated circulating creatine kinase concentration OMIM:618120
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure, Myocardial fibrosis OMIM:253250
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Microscopic Polyangiitis
Sinusitis, Pericarditis, Episcleritis, Peritonitis, Epistaxis, Arthritis, Pancreatitis, Increased... ORPHA:727
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating crea... ORPHA:42
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Elevated circulating creatine kinase conce... OMIM:607155
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture OMIM:616549
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration, Telangiec... ORPHA:93672
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopat... ORPHA:465508
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... ORPHA:549
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Inters... ORPHA:139402
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Myopathy, Flexion contracture OMIM:618237
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, EMG: myopathic abnor... OMIM:609286
Whipple Disease
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Myositis, Arthritis, Splenomega... ORPHA:3452
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Cardiomyopathy, Patent ductus arteriosus, Arthrogryposis multiplex congen... OMIM:616866
Hemochromatosis Type 2
Dilated cardiomyopathy, Increased circulating ferritin concentration ORPHA:79230
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... ORPHA:555874
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Elevated circulating creatine kinase concentration, Macroglossia, Car... OMIM:232300
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhythmia ORPHA:156
Roifman Syndrome
Eczema, Noncompaction cardiomyopathy, Hip contracture, Decreased circulating antibody level, Recu... ORPHA:353298
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Cardiomyopathy ORPHA:2394
Infantile Refsum Disease
Cardiomyopathy, Hepatomegaly, Facial palsy, Arrhythmia ORPHA:772
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Cardiomyopathy, Splenomegaly ORPHA:79312
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Generalized amyotrophy OMIM:613561
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia, Hepatomegaly, Telangiectasia of the skin, Generalize... ORPHA:79279
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Eczema, Ventricular septal defect, Mitral regurgitation, Patent duct... OMIM:615355
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Pancreatitis, Splenomegaly, ... ORPHA:90970
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine ki... OMIM:614921
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Splenomegaly, Uveitis, Vasculitis, Ski... ORPHA:32960
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Hepatosplenomegaly, ... OMIM:232500
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Elevated circulating creatine kinase concentration, Cardiomyopathy, Proximal muscle weakness in u... ORPHA:363623
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Chronic otitis media, Rhinitis, A... ORPHA:47612
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus ORPHA:229
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Myositis, Pulmonary arterial... ORPHA:809
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Eczema, Noncompaction cardiomyopathy, Hip contracture, R... OMIM:616651
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Myopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte m... ORPHA:367
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure ORPHA:70472
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Atrioventricular block, Abnormal hea... ORPHA:398124
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Elevated circulati... ORPHA:90291
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Absence Of The Pulmonary Artery
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Bronch... ORPHA:980
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hepatomegaly OMIM:604273
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Left ventricular systolic dysfunction... OMIM:619167
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Pulmonic s... OMIM:615415
Neutral Lipid Storage Myopathy
Hepatomegaly, Pelvic girdle muscle weakness, Abnormal circulating creatine kinase concentration, ... ORPHA:98908
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Pericarditis, Pneumonia, Endocarditis, Septic arthritis, Osteomy... ORPHA:449280
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Blau Syndrome
Hypertension, Eczema, Pericarditis, Synovitis, Flexion contracture of toe, Arthritis, Nongranulom... OMIM:186580
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Cardiomyopathy ORPHA:27
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Hepatomegaly, Tubulointerstitial nephritis, Patent foramen ovale OMIM:614582
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:618839
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Pericarditis, Episcleritis, Chondritis of pinna, Ch... ORPHA:728
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Glomerulonephritis, ... ORPHA:99931
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Limb muscle weakness OMIM:619259
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly OMIM:619046
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Elevated creatine kinase after exercise, R... ORPHA:159
Aicardi-Goutieres Syndrome 9
Hypertension, Hepatomegaly, Pericarditis, Pericardial effusion, Increased blood pressure, Left ve... OMIM:619487
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Elev... ORPHA:99901
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroelastosis, Increased circulati... OMIM:619313
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Macroglossia, Ca... ORPHA:370959
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Acute colitis, Congestive heart failure, Hypoalbuminemia, Abnormal per... ORPHA:67
Mitochondrial Trifunctional Protein Deficiency
Mitral regurgitation, Skeletal myopathy, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... ORPHA:746
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Retinal hemorrhage, Renovascular hypertension, Restrictive c... OMIM:264800
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:369
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Inflammatory abnormality of the skin, Ventricular septal... ORPHA:26793
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... ORPHA:99827
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Abnormal P wave, Hepatomegaly... ORPHA:85443
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic necrosis OMIM:231530
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Abnormality of skeletal muscle fiber size, Myopathy, H... ORPHA:79083
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia ORPHA:96
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Splenomegaly ORPHA:848
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hepatomegaly, S... ORPHA:2348
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase conce... OMIM:607426
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Beh├žet Disease
Retrobulbar optic neuritis, Cerebral ischemia, Optic neuritis, Splenomegaly, Gastrointestinal hem... ORPHA:117
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia OMIM:530000
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:370
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Transient ischemic attack, Elev... ORPHA:1304
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Peritonitis, Elevated circulating amyloid A, Arthritis, Splenomegaly,... OMIM:249100
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Postinfectious Vasculitis
Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Inflammatory abnormali... ORPHA:48435
Kawasaki Disease
Myocarditis, Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal def... ORPHA:2331
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Tubulointerstitial nephritis, Elevated circulating creatine kinase concentration, C... ORPHA:228308
Sweet Syndrome
Dilated cardiomyopathy, Increased circulating interleukin 6, Inflammation of the large intestine,... ORPHA:3243
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension ORPHA:31824
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Atrial septal defect, Patent ductus arteriosus ORPHA:1842
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Rhinitis, Fulminant hepatitis, Bradycardia, Macul... ORPHA:319213
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Elevated circulatin... OMIM:618775
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Minimal change glomerulonephritis, Hypoalbumin... OMIM:616730
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Increased intramyocel... ORPHA:98907
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Esophagitis, Tela... ORPHA:3342
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:618835
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Cardiomyopathy ORPHA:1493
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle hypertrophy, Macroglossia, Congestive ... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:226100
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Hepatomegaly, Panniculitis, Cardiomyopathy, Abnormal cardiovascular syste... ORPHA:79086
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Decreased circulating IgG level, Cardiomyopathy, Chronic mucocu... OMIM:242840
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction OMIM:145350
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Aortic regurgitation, Recurrent otitis m... OMIM:252500
Alg3-Cdg
Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block, Splenomegaly ORPHA:773
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Increased muscle lipid content, Antenatal intracerebral hem... OMIM:608836
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture OMIM:616897
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Elevated circulating creatine kinase concentration, Congestive ... OMIM:609015
Propionic Acidemia
Hepatomegaly, Eczema, Limb hypertonia, Pancreatitis, Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Abnormal heart v... OMIM:230500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentrat... OMIM:607459
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Colitis, Hematochezia OMIM:203300
Shigellosis
Myocarditis, Hypovolemic shock, Pneumonia, Peritonitis, Acute colitis, Arthritis, Uveitis, Rhabdo... ORPHA:810
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Nephritis, Patent ductus arteriosus, Spl... OMIM:617303
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Myopathy, Tubulointerstitial nephritis, Elevated circulating creatine kinase concen... ORPHA:157
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Cardiomyopathy OMIM:614922
Listeriosis
Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Pneumonia, Endocarditis, Peritonitis... ORPHA:533
Microsporidiosis
Myocarditis, Cholangitis, Sinusitis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:2552
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Episclerit... OMIM:602782
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Distal lower limb... ORPHA:892
Granulomatosis With Polyangiitis
Sinusitis, Hypertension, Pericarditis, Prostatitis, Chronic otitis media, Epistaxis, Pancreatitis... ORPHA:900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Pneumonia, Weakness of facial musculature, Cardiomyopathy, Raynaud ... ORPHA:247691
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Absent muscle fiber merosin, Reduced ejection fraction, Myositis... ORPHA:258
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cardiomyopathy, Skin rash OMIM:618321
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619053
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus ORPHA:1517
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Myocardial infarction, Vasculit... ORPHA:342
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Muscular dystrophy, Cardiomyopathy, Hypoalbum... ORPHA:88618
Gm1 Gangliosidosis
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Infectious encep... ORPHA:354
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Arrhythmia, Pulmonic stenosis OMIM:611553
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ma... ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Parotitis, Splenomegaly, Camptodactyly of finger, Elevated c... OMIM:256040
Penoscrotal Transposition