Gene Summary

Name:
troponin C, cardiac/slow skeletal
Synonyms:
cTnC,  TnC

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tnnc1em1(IMPC)J HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Tnnc1em1(IMPC)J HOM   E15.5 0.00
abnormal embryo size Tnnc1em1(IMPC)J HET E15.5 0.00
embryonic lethality prior to tooth bud stage Tnnc1em1(IMPC)J HOM   E12.5 0.00

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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.

Electrocardiogram (ECG)

Waveform Image

19 Images

Human diseases caused by Tnnc1 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.

The table below shows human diseases associated to Tnnc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hypertrophy,... OMIM:613243
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154

The table below shows human diseases predicted to be associated to Tnnc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
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 Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Cor pulmonale, Right ventricular hypertrophy, Hypertension OMIM:268500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Combined Oxidative Phosphorylation Deficiency 44
Cerebral atrophy, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomyopathy OMIM:618855
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Angina pectoris, Right ventricular hypertrophy, Pulmonary arterial hyp... OMIM:265400
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Supraventricular arrhythmia, Distal lower limb muscle weakness, Diabetes me... ORPHA:320360
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hypothyroidism, H... ORPHA:602
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Abnormal cerebral white matter morphology, Flexion contracture, Simplified gyral ... OMIM:618815
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Left ventricular hypertrophy, Br... OMIM:619048
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia, Increased QRS v... OMIM:619040
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Coenzyme Q10 Deficiency, Primary, 5
Secondary microcephaly, Cerebral atrophy, Bradycardia, Left ventricular hypertrophy OMIM:614654
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Abnormal thalamic MRI signal ... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Attrv30M Amyloidosis
Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block, Cardiomegaly, C... ORPHA:85447
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Classic Multiminicore Myopathy
Right ventricular failure, Increased muscle lipid content, Congenital muscular dystrophy, General... ORPHA:324604
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystroph... OMIM:613156
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Depression, Cerebral atrophy, Bradycardia, Hypogonadism... OMIM:609286
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Developmental And Epileptic Encephalopathy 35
Microcephaly, Cerebral atrophy, Irritability, Cardiomyopathy OMIM:616647
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Cardiomyopathy, Partial agenesis of the corpus callosum OMIM:616051
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypoplasia of the corpus callosum, Cerebral atrophy, Hypertrophic cardiomyopathy OMIM:618235
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Cardiomyopathy OMIM:610100
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Arrhythm... OMIM:181350
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Lower limb hypertonia, Abnormal left ventricular function, Skeletal... ORPHA:3208
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced ejection fraction, Pulmonary arterial hypertension OMIM:618189
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Basal ganglia cysts, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension... OMIM:613623
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Prolonged QT interval, Cardiomegaly, Patent foramen ov... OMIM:601005
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Endocardial Fibroelastosis
Cryptorchidism, Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure,... ORPHA:2022
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Cardiomyopathy OMIM:615119
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Brachial... ORPHA:268
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Combined Oxidative Phosphorylation Deficiency 17
Microcephaly, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomeg... OMIM:619167
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Congenital Fibrinogen Deficiency
Internal hemorrhage, Hemorrhagic ovarian cyst, Tachycardia, Right ventricular hypertrophy, Left v... ORPHA:335
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Bronchopulmonary Dysplasia
Right ventricular hypertrophy, Right ventricular failure ORPHA:70589
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Ventricular hypertrophy, Decreased muscle mass, Arrhy... ORPHA:263297
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Noonan Syndrome 8
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricu... OMIM:615355
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Aggressive behavior, Abnormal autonomic nervous system physiol... ORPHA:97229
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Fabry Disease
Arrhythmia, Angina pectoris, Abnormal autonomic nervous system physiology, Hypertension, Myocardi... OMIM:301500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Abnormal cerebral white matter morphology, Flexion contracture, Facial palsy, Myopathy, Cardiomyo... OMIM:201470
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Progressive microcephaly, Abnormal autonomic nervous system physiology, Micr... OMIM:614498
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor OMIM:618632
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hypertrophy,... OMIM:613243
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Cerebral atrophy, Hepatomegaly, Splenomegaly, Microcephaly, Hypogonadism, Ca... OMIM:608540
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 31
Microcephaly, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:614261
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Tangier Disease
Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertrophy, Splenomegal... OMIM:205400
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Hypothyroidism, ST segment depression, Hypertension, Hypopituitarism, Myocardial... ORPHA:90065
Alg1-Cdg
Microcephaly, Hypogonadism, Hypertrophic cardiomyopathy ORPHA:79327
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Microcephaly, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Caribbean Parkinsonism
EMG: myopathic abnormalities, Autonomic bladder dysfunction, Orthostatic hypotension, Midline bra... ORPHA:97355
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Reduced ejection fraction, Abnormal salivary gland morphology, Abnormal auto... ORPHA:314652
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Rhabdomyolysis, Lower limb muscle weakness, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Hypointensity of cerebral white matter on MRI, Increased circulating procalcitonin concentration,... ORPHA:363549
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Hepatomegaly, Myopathy, Diabetes mellitus, Cardiomyopathy OMIM:610717
Sarcosinemia
Emotional lability, Peroneal muscle weakness, Pulmonic stenosis, Optic atrophy, Hypertrophic card... ORPHA:3129
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Hypertrophic cardiomyopathy OMIM:604377
Cushing Disease
Bipolar affective disorder, Depression, Hypertension, Telangiectasia of the skin, Anxiety, Diabet... ORPHA:96253
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... OMIM:616827
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkins... OMIM:300257
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Mitochondrial Complex I Deficiency, Nuclear Type 7
Microcephaly, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618229
Ceroid Lipofuscinosis, Neuronal, 3
Anxiety, Optic atrophy, Concentric hypertrophic cardiomyopathy, Cerebral atrophy OMIM:204200
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Diffuse cerebral atrophy, Bradycardia ORPHA:2898
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Frontal cortical atrophy, Proximal amyotrophy, Left ventricular systolic dysfun... ORPHA:206559
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right atrial enlargement, Right ventricular h... OMIM:616028
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Cardiomegaly, Cardiomyopathy, Orthostatic hypotensi... OMIM:105210
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Mcleod Syndrome
Personality disorder, Depression, Rhabdomyolysis, Atrial fibrillation, Anxiety, Dilated cardiomyo... OMIM:300842
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Hepatomegaly, A... OMIM:115197
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Depression, Abnormal cerebral white matter morphology, Ce... ORPHA:254886
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy OMIM:614096
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Palpitations, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Myopathy, Optic atrophy, Cardiomyopathy ORPHA:26792
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Atrial septal defect, Ventric... OMIM:208085
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Depression, Primary hyper... OMIM:219080
Salih Myopathy
Arrhythmia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Dilate... OMIM:611705
Dyskinesia, Familial, With Facial Myokymia
Facial myokymia, Limb hypertonia, Congestive heart failure, Anxiety, Dilated cardiomyopathy OMIM:606703
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Ventricular septal defect, Ri... OMIM:613404
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Microcephaly OMIM:618097
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Hypertension, Congestive heart failure, Type II diabetes mellitus, Hypertrophic cardi... ORPHA:225
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Shoulder girdle muscle weak... ORPHA:254892
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Irritability, Left ventricular hypertrophy ORPHA:401866
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Mitochondrial Complex I Deficiency, Nuclear Type 14
Secondary microcephaly, Myopathy, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618236
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
3-Methylglutaconic Aciduria, Type Viii
Hypoplasia of the corpus callosum, Cerebral atrophy, Bradycardia, Secondary microcephaly OMIM:617248
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Syncope, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Muscular dystrophy, Abnormal cerebral white matter morphology,... OMIM:613153
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Hypertrophic cardiomyopathy OMIM:618228
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Macroglossia, Bradycardia, Elevated circulating thyroid-stimulati... ORPHA:95717
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Aortic valve stenosis, Right vent... OMIM:267010
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:98853
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Atrioventricular canal defect, Mic... ORPHA:40366
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Papilledema, Cholelithiasis, Bradycardia, Hypert... OMIM:618775
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Microcep... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Abnormal cerebral white matter morphology, Bradycardia OMIM:616299
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Depression, ... ORPHA:98933
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defe... OMIM:249270
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Microcephaly, Ventricular septal defect ORPHA:2515
Fabry Disease
Conjunctival telangiectasia, Abnormal endocardium morphology, Delayed puberty, Transient ischemic... ORPHA:324
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Depression, Mitral regurgitation, Emotional lability, Generalized a... OMIM:258450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Infantile Spasms-Broad Thumbs Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly, Optic disc pa... ORPHA:3173
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Secondary microcephaly OMIM:610768
Al Amyloidosis
Macroglossia, Monoclonal light chain cardiac amyloidosis, Arrhythmia, Gastrointestinal hemorrhage... ORPHA:85443
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Aggressive behavior, Ventricular septal defect, Dysplastic ... OMIM:300967
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hepatomegaly, ... ORPHA:276556
Vici Syndrome
Agenesis of corpus callosum, Congestive heart failure, Left ventricular hypertrophy, Schizencepha... OMIM:242840
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Irritability, Myopathy, Optic atrophy, Hypertrophic cardiomyopathy OMIM:618237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Joint contracture o... OMIM:614407
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Abnormal nerve conduction velocity, Hepatomegaly, Splenomegaly, ... ORPHA:93476
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Ty... ORPHA:169186
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Aggressive behavior, Hypertrophic cardiomyopathy OMIM:300438
3-Methylglutaconic Aciduria Type 4
Microcephaly, Cardiomyopathy ORPHA:67048
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Muscular dystrophy,... ORPHA:300751
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal autonomic nervous system physiology, Sudden ... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal auton... ORPHA:369873
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Pro... OMIM:610198
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Depression, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimoto thyroidi... ORPHA:83601
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Ventricular septal defect, Emotional lability, Optic ... ORPHA:255241
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... ORPHA:95716
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Decre... ORPHA:320
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Depression, ... ORPHA:227510
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Hyperglycinemia, Lactic Acidosis, And Seizures
Microcephaly, Flexion contracture, Cerebral atrophy, Hypertrophic cardiomyopathy OMIM:614462
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal heart... ORPHA:79264
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Skeletal muscle atrophy, Diabetes mellitus, Myopathy, Hypogonadism, Adrenal hyperpl... ORPHA:189439
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Cryptorchidism, Corpus callosum atrophy, Hypoplasia of the corpus c... ORPHA:565624
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Cryptorchidism, Arrhythmia, Aplasia/Hypoplasia of the corpus callosum, F... ORPHA:1194
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:98915
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Muscular dystrophy, Flexion contracture, Congestive heart failure, Calf... OMIM:310200
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Depression, Primary hypercortisolism, Hypertension, Emotion... OMIM:615830
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Bardet-Biedl Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus OMIM:615981
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... ORPHA:329336
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia, Abnormal heart morphology ORPHA:391673
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy OMIM:612989
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Achalasia, Abnormal autonomic nervous system physiology, Skeletal muscle... OMIM:252320
Noonan Syndrome 10
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Mitral stenos... OMIM:616564
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Hypergonadotropic hypogonadism, Generalized amyotrophy, Facial p... OMIM:615084
Trimethylaminuria
Depression, Tachycardia, Hypertension, Splenomegaly OMIM:602079
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ho... ORPHA:226313
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Abnormal heart valve morphology, Pulm... ORPHA:230851
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Camptodactyly of toe, Marked muscular hypertrophy, Joint contracture of ... OMIM:300280
Sengers Syndrome
Myopathy, Hypertrophic cardiomyopathy OMIM:212350
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Optic atrophy, Diabetes mellitus... ORPHA:1215
Coproporphyria, Hereditary
Depression, Hypertension, Hepatomegaly, Tachycardia, Anxiety, Splenomegaly OMIM:121300
Glossopharyngeal Neuralgia
Depression, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Anxiety, Jaw c... ORPHA:221098
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Camptodactyly, Cerebral atrophy, Left ventricular hypertrophy, Progressive microc... OMIM:611209
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:613673
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Cerebral edema, Left ventricular hypertrophy OMIM:619355
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Testicular atrophy, Congestive heart failure, Cardiomegaly, Splenomegal... OMIM:235200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Proximal Spinal Muscular Atrophy
Atrial septal defect, Facial diplegia, Flexion contracture, Quadriceps muscle weakness, Triceps w... ORPHA:70
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Microcephaly, Hypertrophic cardiomyopathy OMIM:246900
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Bradycardia, Dilation of l... OMIM:610015
Combined Oxidative Phosphorylation Deficiency 5
Hypoplasia of the corpus callosum, Microcephaly, Leukoencephalopathy, Hypertrophic cardiomyopathy OMIM:611719
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Kearns-Sayre Syndrome
Arrhythmia, Primary adrenal insufficiency, Basal ganglia calcification, Third degree atrioventric... OMIM:530000
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Atrial fibrillation, Abnormal left ventricular function, Tr... ORPHA:75249
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Hec Syndrome
Vaginal hydrocele, Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Nemaline bodies, Microcephaly, Myopathy, Cardiomyopathy OMIM:616549
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Cranial nerve compression, Generalized amyotrophy, Congestive heart... ORPHA:52430
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:262
Mitchell Syndrome
Abnormal cerebral white matter morphology, Limb muscle weakness, Abnormal autonomic nervous syste... OMIM:618960
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Cyclic Vomiting Syndrome
Microcephaly, Cardiomyopathy OMIM:500007
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
American Trypanosomiasis
Arrhythmia, Aganglionic megacolon, Achalasia, Hepatomegaly, Congestive heart failure, Splenomegal... ORPHA:3386
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Hypoplasia of the corpus callosum, Left v... OMIM:618619
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy ORPHA:638
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Aganglionic megacolon, Hypertension, Le... OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Cerebral atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Pu... OMIM:619272
Infantile Refsum Disease
Arrhythmia, Hepatomegaly, Facial palsy, Optic atrophy, Cardiomyopathy ORPHA:772
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Developmental And Epileptic Encephalopathy 75
Frontal cortical atrophy, Hypoplasia of the corpus callosum, Cardiomyopathy, Cerebral cortical at... OMIM:618437
Myotonic Dystrophy 1
Atrial flutter, Cerebral atrophy, Atrial fibrillation, Cholelithiasis, Myotonia, Testicular atrop... OMIM:160900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Optic atrophy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Tachyc... ORPHA:3299
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Cryptorchidism, Aggressive behavior, Camptodactyly, Anencephaly, Pulmonic ... OMIM:619148
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Cryptorchidism, Atrial septal defect, Aggressive behavior, Ventricular septal defect, Abnormal ca... ORPHA:466791
Wolfram Syndrome
Male hypogonadism, Gastrointestinal hemorrhage, Abnormal autonomic nervous system physiology, Hyp... ORPHA:3463
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Mucolipidosis Type Ii
Diastasis recti, Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency,... ORPHA:576
Myotonic Dystrophy 2
Palpitations, Myotonia, Type 2 muscle fiber atrophy, Hypogonadism, Tachycardia, Elevated circulat... OMIM:602668
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... ORPHA:102
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Hepato... ORPHA:422
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Abnormal aortic valve morpholog... ORPHA:3287
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Delayed puberty, Irritability, Hypertrophic cardiomyopathy ORPHA:369
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Macronodular adrenal hyperplasia, Hypertension, Depression ORPHA:189427
D-2-Hydroxyglutaric Aciduria 1
Multifocal cerebral white matter abnormalities, Aortic regurgitation, Dilation of lateral ventric... OMIM:600721
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Depres... ORPHA:247691
Pseudo-Torch Syndrome 2
Hepatomegaly, Polymicrogyria, Cerebral hemorrhage, Cerebral calcification, Microcephaly, Bradycardia OMIM:617397
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding, Hyperinsulinemia, Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contr... OMIM:613327
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Hypertrophic c... OMIM:615382
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cardiomyopathy OMIM:604250
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Microcephaly, Cardiomyopathy ORPHA:2394
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Hypoplasia of the corpus callosum, Lower l... ORPHA:97297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Cryptorchidism, Microcephaly, Hypertrophic cardiomyopathy OMIM:604273
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Arrhythmia, Rhabdomyolysis, Hepatomegaly, Myopathy, Cardiomyopathy ORPHA:228305
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Congestive heart failure, Cardiomegaly, Optic atrophy, Limb muscle weakness, Cardiomy... OMIM:619259
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Arrhythmia, Apathy, Hypothyroidism, Hepatomegaly, Decreased serum testoste... ORPHA:465508
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Muscul... ORPHA:272
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Hypergonadotropic hypogonadism, Generalized amyotrophy, Dil... ORPHA:352447
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Cerebral atrophy, Abnormal autonomic nervous system physiology, Iron accumul... ORPHA:329284
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Hepatomegaly, Generalized amyotrophy, Optic atrophy, Telangiectasia, ... ORPHA:79279
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Abnormal cerebral white matter morphology, Cerebral atrophy, Irritability, Cerebral edema, Cardio... OMIM:618321
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes... OMIM:300952
Joubert Syndrome 32
Polymicrogyria, Hypertrophic cardiomyopathy OMIM:617757
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Sudden cardiac death, Hepatomegaly, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:156
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Testicular dysgenesis, Cryptorchidism, Bradycardia, Dysplastic testes OMIM:608800
Alternating Hemiplegia Of Childhood
Arrhythmia, Facial hypotonia, Cardiac conduction abnormality, Aggressive behavior, Abnormal auton... ORPHA:2131
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Macroglossia, Increased radioactive iodine uptake, Decreased circulat... ORPHA:90673
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Cardiomyopathy, Splenomegaly OMIM:619046
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Hepatomegaly, Irritability, Mic... ORPHA:159
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Irritability, Splenomegaly, Hypogonadotropic hypogonadism, Hypertro... ORPHA:848
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Akinetic mutism, Depression, Apathy, Diffuse spongifo... ORPHA:282166
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Abnormal autonomic nervous system physiology, Ort... ORPHA:441
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Rhabdomyolysis, Tachycardia, Glycogen accumulation in muscle f... ORPHA:368
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Aggressive behavior, Cerebral atrophy, Limb hypertonia, Skeletal muscle atrophy, Optic atrophy, C... OMIM:617710
Hsd10 Disease, Infantile Type
Cerebral atrophy, Frontotemporal cerebral atrophy, Paroxysmal bursts of laughter, Abnormality of ... ORPHA:391428
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior OMIM:300894
Ataxia With Vitamin E Deficiency
Arrhythmia, Diabetes mellitus, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:96
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypertrophic cardiomyopathy OMIM:619386
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Type II lissencephaly, Congenital muscular dyst... ORPHA:370959
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Diffuse leukoencephalopathy, Depression, Au... OMIM:169500
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Depression, D... ORPHA:90674
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055