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Gene: Tnnc1 MGI:98779

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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
prenatal lethality prior to heart atrial septation Tnnc1em1(IMPC)J HOM   E15.5 0.00
preweaning lethality, complete penetrance Tnnc1em1(IMPC)J HOM   Early adult 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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

18 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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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
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Dysphagia... ORPHA:63273
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... OMIM:616276
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffne... ORPHA:320360
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Agitation, Compulsive behaviors OMIM:619651
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Dysphagia, Supraventricular tachy... OMIM:255100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy, Distal amyotrophy OMIM:610100
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Optic atrophy, Left ventricular hypertrophy, Hypertro... OMIM:618228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Flexion contracture, Interphalange... OMIM:613870
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Dysphagia, Weakness of facial muscul... OMIM:620265
Cln3 Disease
Aggressive behavior, Optic atrophy, Depression, Increased circulating androgen concentration, T-w... ORPHA:228346
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy, Hypothyroidism OMIM:619647
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Irritability OMIM:616647
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Cryptorchidism, Flexion contracture, Skeleta... OMIM:613156
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Left ventricular hypertrophy, I... ORPHA:335
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Hypertrophic cardiomyopathy, Aggressive behavior OMIM:620270
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy... OMIM:601005
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Endocardial Fibroelastosis
Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli... ORPHA:263297
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor OMIM:618632
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalize... ORPHA:1177
Pituitary Gigantism
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... ORPHA:99725
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Pulmonic stenosis, Atrial septal... OMIM:615355
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... ORPHA:90065
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Reduced left ventricular ejection fraction, Abnormal autonom... ORPHA:314652
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Aggressive behavior, Hypertension, Hypo... ORPHA:97229
Sarcosinemia
Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Emotional lability, Hypertrophic card... ORPHA:3129
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... OMIM:205400
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, Cardiomyopathy, Myopathy OMIM:610717
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... OMIM:619424
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyop... ORPHA:746
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Myopathy, Irritability, Hypertrophic cardiomyopathy OMIM:618237
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Joint contracture OMIM:608540
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Depressio... OMIM:219080
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Optic atrophy OMIM:618236
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration ORPHA:363549
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity d... ORPHA:369873
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... OMIM:618775
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Hyperactivity OMIM:620145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Myotonia, S... ORPHA:98855
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Syncope, Agitation, Palpitations, Type I diabetes me... ORPHA:276575
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atrophy, De... ORPHA:254886
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Agitation, Palpitations,... ORPHA:276580
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Emery-Dreifuss Muscular Dystrophy
Myotonia, Atrioventricular block, Decreased cervical spine flexion due to contractures of posteri... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Atrioventricular block, Decreased cervical spine flexion due to contractures of posteri... ORPHA:98853
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Hyperinsulinemic hypoglycemia, Exces... ORPHA:276556
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Irritability, Optic atrophy ORPHA:401866
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Optic atrophy, Atrial septal defect, Patent foramen ovale, Right ventr... OMIM:614261
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Hepatosplenomegaly, Bile duct prol... OMIM:267010
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hypogonadism OMIM:613313
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic atrop... OMIM:249270
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Dysphagia, Weaknes... ORPHA:329336
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Optic atrophy, Myopathy ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Abnormal nerve condu... ORPHA:93476
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Myotonia, S... ORPHA:98863
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Achalasia, De... ORPHA:324
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Neuromuscular dyspha... ORPHA:171442
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia... ORPHA:320
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... ORPHA:40366
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Aggressive behavior, Dilated cardiomyopathy, Irritability, Left ventricular hypertrophy OMIM:618321
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Hypothyroidism, Hyperthyroidism, Facial pal... ORPHA:254892
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Multiple System Atrophy, Parkinsonian Type
Raynaud phenomenon, Depression, Orthostatic syncope, Abnormal autonomic nervous system physiology... ORPHA:98933
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia, Joint contracture, Limb... OMIM:614498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Optic atrophy, C... ORPHA:401768
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Diabetes mellitus, Hepatomegaly OMIM:606069
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Left ventri... OMIM:252011
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Optic atrophy, Hepatosplen... OMIM:619487
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy OMIM:612989
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Multiple System Atrophy, Cerebellar Type
Raynaud phenomenon, Neuromuscular dysphagia, Depression, Orthostatic syncope, Abnormal autonomic ... ORPHA:227510
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Depression, Hypertension, Increased circulating cortisol ... OMIM:615830
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect OMIM:615981
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... OMIM:612954
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Agitation, Hypertrophic cardiomyopathy OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 19
Irritability, Hypertrophic cardiomyopathy, Optic atrophy OMIM:618241
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Cyclic Vomiting Syndrome
Cardiomyopathy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis multiplex... OMIM:613404
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal heart morphology ORPHA:391673
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrogenic diabetes insipidus, Atrial septal defect, Arthrogryposis m... OMIM:208085
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Limb-girdle muscle weakness, Optic atroph... ORPHA:1215
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Tetanus
Tachycardia, Dysphagia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, ... ORPHA:3299
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest ORPHA:168593
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa... OMIM:235200
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Mitral regurgi... OMIM:616564
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Dys... OMIM:161800
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... ORPHA:3287
Myotonic Dystrophy 1
Atrial flutter, Myotonia, Atrial fibrillation, First degree atrioventricular block, Facial dipleg... OMIM:160900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Hypertrophic cardiomyo... OMIM:613561
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia, Depression OMIM:602079
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Bradycardia, Cerebral hemorrhage OMIM:617397
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Splenomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Depressi... OMIM:300842
Hypokalemic Periodic Paralysis
Myotonia, Abnormal muscle fiber morphology, Impaired myocardial contractility, Adrenocortical ade... ORPHA:681
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Multiple System Atrophy
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... ORPHA:102
Hec Syndrome
Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Jaw claudication, Depression, Abnormal glos... ORPHA:221098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atrophy, Increased variabi... OMIM:258450
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Hyperactivity, Myotonia, Facial hypotonia, First degree atrioventricular blo... ORPHA:589821
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Irritability, Delayed puberty ORPHA:369
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology, Depression ORPHA:398147
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia ORPHA:772
Mitchell Syndrome
Limb muscle weakness, Abnormal autonomic nervous system physiology, Dysphagia OMIM:618960
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Myopathy, Hypogona... ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Cardiom... ORPHA:3386
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Optic atrophy, Depression, Cardiomyopathy, Limb muscle we... OMIM:619259
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... ORPHA:1194
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, P... OMIM:615084
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive... ORPHA:2131
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... ORPHA:684
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Optic atrophy, Cardiomyopathy ORPHA:79312
Myotonic Dystrophy 2
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... OMIM:602668
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Dysphagia, Abnormal heart morphology ORPHA:70472
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... OMIM:620351
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial hypertension, Hypertrophic car... OMIM:212350
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Nephronophthisis 16
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... OMIM:615382
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Anorexia OMIM:619386
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cranial nerve compression, Cardio... ORPHA:52430
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Ragged-red muscle fibers, Primary adrenal insufficiency, C... OMIM:530000
Hemochromatosis, Type 3
Cardiomyopathy, Hypogonadotropic hypogonadism OMIM:604250
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Hepatomegaly ORPHA:2394
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Agitation OMIM:619046
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... ORPHA:521411
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Hypertens... OMIM:615954
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... OMIM:212112
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Optic atrophy, Telangiectasia, Generalized amyotrophy, ... ORPHA:79279
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... OMIM:265380
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Depression, Hypertension OMIM:121300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... ORPHA:352447
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Depression, Abnormal heart morphology, Dysphagia, Emotional labil... ORPHA:79264
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Increased muscle lipid content, A... ORPHA:565612
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology, Impulsivity, Depression ORPHA:101046
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Irritability, Cholelithiasis, Hypertro... ORPHA:848
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia ORPHA:96
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... ORPHA:441
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:618437
Erythermalgia, Primary
Abnormal autonomic nervous system physiology, Palpitations OMIM:133020
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Small thenar eminence, Pulmonic stenosis, Cam... OMIM:619148
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Abnormal thymus morph... OMIM:242840
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Irritability, Hypotension,... ORPHA:159
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Diabetes mellitus, Dilated cardiomyopathy, Hypogona... ORPHA:79230
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Depression, Abnormal autonomic nervous system physiology, Hypothyroidism, Ha... ORPHA:83601
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi... ORPHA:97240
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu... ORPHA:565624
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hepatomeg... ORPHA:99827
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Severe temper tantrums, Aggressive behavior, Optic atrophy, Cardiomyopat... OMIM:617710
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Pseudobulbar paralysis, Autonomic bladder dysfunction, Autonomic erectile dysfunction... OMIM:169500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Hydrocele testis, Proximal muscle weakness in lower limbs, Dysphagia, Atria... ORPHA:280633
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrogenic diabetes insipidus, Hy... OMIM:620167
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Cardiomyopathy, Dysphagia, ... OMIM:222300
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Optic atrophy ORPHA:544469
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy OMIM:620326
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mogs-Cdg
Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegal... ORPHA:79330
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop... OMIM:229300
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Isolated Atp Synthase Deficiency
Hepatomegaly, Dilated cardiomyopathy, Optic atrophy, Hypogonadism, Arrhythmia, Hypertrophic cardi... ORPHA:254913
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:91355
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Decreased serum testosterone concentration, Hypogonadotropic... ORPHA:465508
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Optic atrophy, Hepatomegaly ORPHA:27
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Distal amyotrophy OMIM:617183
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Facial palsy, Hypothyroidism, Optic disc coloboma, Congenit... OMIM:620186
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Adrenocorticotropin... OMIM:231550
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipid... OMIM:209900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Myotonia, Congestive heart failure, Flexion contracture, Skeletal muscle... ORPHA:682
Myotonia Congenita, Autosomal Recessive
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Dys... OMIM:255700
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... ORPHA:139578
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... OMIM:604377
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Depression, Hypertensi... ORPHA:58
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Decreased response to growth hormone stimulation test, B... ORPHA:485405
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Dysphagia ORPHA:319213
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Optic atrophy, Congenital co... ORPHA:97297
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... OMIM:160800
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bur... ORPHA:391428
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy OMIM:300590
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsuline... ORPHA:324575
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Noonan Syndrome 5
Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:611553
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
D-Glyceric Aciduria
Optic nerve hypoplasia, Tongue thrusting, Bradycardia OMIM:220120
Porphyria Variegata
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension, Abnormal autonomic nervous sy... ORPHA:79473
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Congestive hea... ORPHA:79083
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelastosis, Restrictive cardiomyo... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level OMIM:618839
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Secundum atrial septal defect, Facial diplegia, Attention deficit hyperactiv... OMIM:619121
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology, Hypomimic face OMIM:618049
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita, Abnormality of the endocrine sy... ORPHA:79321
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty, Hypertrophic cardiomyopat... ORPHA:496790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dysphagia, Hypertension, Agitation, Bradycardia,... ORPHA:94093
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Hypertrophic cardiomyopathy, Portal hypertension, Hepatosplenomegaly OMIM:619902
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Premature thelarche, Hypothyroid... OMIM:616878
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Optic atrophy, Skeletal muscle atrophy OMIM:620089
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Congestive heart failure, Abnormality of skeletal muscle fiber s... ORPHA:2348
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder OMIM:617935
Choreoacanthocytosis
Peroneal muscle atrophy, Compulsive behaviors, Muscle fiber atrophy, Decreased amplitude of senso... ORPHA:2388
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... ORPHA:370959
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Hypoplasi... OMIM:613177
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dysphagia, Intracran... ORPHA:449285
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Postural hypoten... OMIM:256800
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly OMIM:616651
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Flexion contracture, Optic atrophy, Abnormal autonomic nervous system... ORPHA:35069
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Rhabdomyolysis... ORPHA:26791
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:310440
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Agel Amyloidosis
Facial palsy, Depression, Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dy... ORPHA:85448
Caribbean Parkinsonism
EMG: myopathic abnormalities, Orthostatic hypotension, Abnormal autonomic nervous system physiolo... ORPHA:97355
Fragile X-Associated Tremor/Ataxia Syndrome
Dysphagia, Depression, Hypertension, Abnormal autonomic nervous system physiology, Compulsive beh... ORPHA:93256
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly ORPHA:773
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:1842
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Abnormal cardio... ORPHA:79086
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con... OMIM:606072
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy OMIM:614299
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... ORPHA:26793
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... ORPHA:3426
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Panc... ORPHA:892
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly ORPHA:353298
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Optic atrophy,... ORPHA:95
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Combined Oxidative Phosphorylation Deficiency 5
Hypertrophic cardiomyopathy OMIM:611719
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonad... ORPHA:550
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Splenomegaly, Vasculitis, Cardiomyopathy, Hypothyroidism, Self-... OMIM:225750
Inherited Creutzfeldt-Jakob Disease
Emotional lability, Depression, Irritability, Abnormal autonomic nervous system physiology, Vesti... ORPHA:282166
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Cardiomyopathy, Irritability, Hypotension ORPHA:292
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Congestive heart failure, Hyperin... ORPHA:528
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T... ORPHA:401923
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Cryptorchidism, Camptodactyly OMIM:611209
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome... ORPHA:93473
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level OMIM:618835
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myotonia, Camptodactyly of ... ORPHA:324442
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:619053
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Myotonia, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule... ORPHA:79102
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal heart morphology, Macr... ORPHA:453499
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial septal defect, Hype... OMIM:613706
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Noonan Syndrome 6
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia OMIM:606054
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... OMIM:312870
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Vici Syndrome
Cardiomyopathy, Optic atrophy ORPHA:1493
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology, Depression ORPHA:163921
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Hepatomegaly OMIM:251000
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... ORPHA:99734
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Handgrip myotonia, Prolonged QRS complex, Decreased response to growth h... ORPHA:273
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter OMIM:188580
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:5
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture OMIM:601003
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hand muscle weakness, Fatty replacement of skeletal muscle, Cong... ORPHA:98908
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Flexion contracture, Optic atrophy, Attention deficit hyperactivity disorder, Atria... OMIM:619383
Paramyotonia Congenita
Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas... ORPHA:354
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... OMIM:618397
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f... ORPHA:2326
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia, Hypothyroidism, Dysphagia ORPHA:99736
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl... ORPHA:258
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension ORPHA:90051
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Repetitive compulsive behavior, Muscular ventric... ORPHA:66634
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec... OMIM:614921
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Depression ORPHA:886
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re... OMIM:619127
Tick-Borne Encephalitis
Skeletal muscle atrophy, Facial palsy, Anorexia, Depression, Abnormal glossopharyngeal nerve morp... ORPHA:297
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hypertrophic cardiomyopathy, Abnormal cardiac se... ORPHA:251071
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615415
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Anorexia, Aggressive behavior, Orchitis, Hypovolemia, Capillary... ORPHA:99826
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology, Diabetes insipidus OMIM:598500
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Depression, Hypertension, Proximal limb muscle stiffness, Asymmet... OMIM:184850
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy, Hepatomegaly OMIM:614922
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hypertension, Bile duct proliferation, Atrial septal defect, Left ven... OMIM:613610
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dysphagia OMIM:252930
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:618810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy,... ORPHA:70595
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Dysphagia, Hypertrophic cardiomyopathy,... OMIM:607426
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Hypoplasia of the musculature, High-outpu... ORPHA:231226
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Hypertrophic cardiomy... OMIM:605275
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo... OMIM:608390
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular arrhythmi... ORPHA:280365
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyop... OMIM:615895
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Portal hypertension, Sho... OMIM:609136
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Alexander Disease Type Ii
Limb muscle weakness, Abnormal autonomic nervous system physiology, Dysphagia ORPHA:363722
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Ramos-Arroyo Syndrome
Atrial septal defect, Self-mutilation, Aganglionic megacolon, Abnormal autonomic nervous system p... ORPHA:1051
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... OMIM:164310
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Flexion contracture, Abnormal auton... ORPHA:99027
Stuve-Wiedemann Syndrome 1
Myotonia, Elbow flexion contracture, Dysphagia, Contracture of the proximal interphalangeal joint... OMIM:601559
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Noonan Syndrome 4
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:610733
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:157
Costello Syndrome
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... ORPHA:3071
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia ORPHA:371
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Bicuspid aortic valve, Myocardial infarction, Bilateral cryptorchidism, Partial... OMIM:150230
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Hypothyroidism ORPHA:445038
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancr... ORPHA:99889
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mu... ORPHA:209335
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Diabetes mellitus, Hypoplasia of the musculatu... ORPHA:231214
Serotonin Syndrome
Restlessness, Tachycardia, Rhabdomyolysis, Hypertension, Irritability, Agitation, Hypotension, Ab... ORPHA:43116
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Myotonia, Aggressive behavior, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Muscular Dystrophy, Barnes Type
Myopathy, Myotonia, Muscular dystrophy OMIM:158800
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hyper... ORPHA:217253
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cardiac arrest, Cryptorchidism, Congestive heart failure, Cardiomy... OMIM:212720
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Myotonia, Firm muscles OMIM:255710
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellul... ORPHA:98907
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy ORPHA:88618
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... ORPHA:769
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Absent nipple, Hypoplasia o... OMIM:612289
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... ORPHA:96149
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Central Hypoventilation Syndrome, Congenital, 1
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi... OMIM:209880
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology, Cryptorchidism OMIM:217980
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Optic nerve hypoplasia, Congenital fibrosis of extraocular muscles, Abnormal autonom... ORPHA:300570
Myotonia Permanens
Skeletal muscle hypertrophy, Myotonia, Generalized muscle hypertrophy, Dysphagia ORPHA:99735
Machado-Joseph Disease
Distal amyotrophy, Abnormal autonomic nervous system physiology, Dysphagia OMIM:109150
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Arrhythmia, Dysphagia, Hypertrophic ca... OMIM:615471
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Cardiomyopathy, Generalized amyotrophy, Dysphagia, Limb hypertonia ORPHA:572798
Tangier Disease
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly ORPHA:31150
Rett Syndrome
Skeletal muscle atrophy, Agitation, Abnormal autonomic nervous system physiology, Increased serum... ORPHA:778
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Optic atrophy, Macrogl... OMIM:617303
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatos... ORPHA:466934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Optic ... OMIM:253800
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Myotonia OMIM:170400
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Optic atrophy, Abnormal ... ORPHA:579
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hypertrophic cardiomyopathy, Optic atrophy, Skeletal muscle steatosis ORPHA:436271
Primary Hyperoxaluria
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... ORPHA:416
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m... ORPHA:3101
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... OMIM:607014
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypogonadotropic hypogonadism, Optic atrophy, Dysphagia, Autonomic bladder dysfunction, Delayed p... ORPHA:447896
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Optic atroph... ORPHA:505248
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hyperinsulinemic hypogly... ORPHA:71212
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreati... OMIM:130650
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Abnor... ORPHA:139417
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Depression, Agitation, Abnormal autonomic nervous system physiology ORPHA:2828
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis,... OMIM:619745
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Cardiomyopathy OMIM:616084
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Optic atrophy, Increased intramyocellular lipid droplets, Weakness of facial muscul... OMIM:220110
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Splenomegaly, Polycystic ... ORPHA:264580
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Isolated Complex I Deficiency
Optic disc pallor, Hepatomegaly, Diabetes mellitus, Optic neuropathy, Hypertrophic cardiomyopathy... ORPHA:2609
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Bile duct proliferation, Optic atrophy OMIM:618329
Hereditary Spherocytosis
Splenomegaly, Restrictive cardiomyopathy, Cholelithiasis, Hepatomegaly ORPHA:822
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Cryptorchidism OMIM:614052
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... OMIM:253220
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism OMIM:603736
Toriello-Carey Syndrome
Aganglionic megacolon, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmon... ORPHA:3338
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Leiomyosarcoma, Hypertension, Pheochromocytom... ORPHA:139411
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... OMIM:253200
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology, Aggressive behavior OMIM:300894
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Reduced ... ORPHA:99829
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism OMIM:617903
Noonan Syndrome 3
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... OMIM:609942
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Irritability, Hypertrophic cardiomyopathy OMIM:616539
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, O... ORPHA:255210
Leopard Syndrome 1
Bundle branch block, Scapular winging, Delayed menarche, Complete atrioventricular canal defect, ... OMIM:151100
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Generalized muscular appea... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Flexion contrac... OMIM:212065
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217085
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Supernumerary nipple, Pineal cyst, Atrial septal defect... OMIM:600268
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Irritability OMIM:229700
Leprosy
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Testicular mass, Ab... ORPHA:548
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Hepatosplenomegaly ORPHA:79255
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly ... ORPHA:217093
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hyperactivity, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis... OMIM:607721
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis, Anorexia ORPHA:79430
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353281
Episodic Ataxia Type 1
Calf muscle hypertrophy, Myotonia ORPHA:37612
Postinfectious Vasculitis
Cerebral vasculitis, Anorexia, Abnormality of the peripheral nervous system, Raynaud phenomenon, ... ORPHA:48435
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Dysphagia, Hypom... ORPHA:247234
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy OMIM:615398
Trisomy 20P
Macroorchidism, Cryptorchidism, Abnormal autonomic nervous system physiology, Camptodactyly of fi... ORPHA:261318
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ... OMIM:617403
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Melkersson-Rosenthal Syndrome
Macroglossia, Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Tachycardia, Hyperthyroidism, Increas... OMIM:609152
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes... OMIM:255800
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Hypothyroidism OMIM:613673
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia, Flexion contracture, Optic atrophy OMIM:615491
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Myotonia, Shoulder flexion contracture, Skeletal muscle... ORPHA:800
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Agenesis of the diaphragm, Ventricular septal defect, Adr... OMIM:236680
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology, Dysphagia, Depression OMIM:168600
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g... ORPHA:699
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... ORPHA:293987
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hematochezia, Hyperten... OMIM:615846
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Scorpion Envenomation
Bundle branch block, Tachycardia, Restlessness, Cardiac conduction abnormality, Myocarditis, Cong... ORPHA:466677
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hepatomegaly, Aggressive behavior, Ragged-red muscle fibers, Flexion con... ORPHA:17
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology, Dysphagia, Hypomimic face ORPHA:171695
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Decreased serum leptin, Splenomegaly, Generalized muscular appearance from birth, H... OMIM:269700
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Dysphagia OMIM:617248
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Heart block, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:175
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Dysphagia OMIM:600072
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Decreased response to grow... ORPHA:363958
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Optic atrophy, Pulmonic stenosis, Atrial septal ... ORPHA:1340
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, L... ORPHA:100924
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Thomsen And Becker Disease
Myotonia ORPHA:614
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepat... ORPHA:51
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Optic nerve dysplasia, Tongue thrusting, Pulmonic stenosis, Atrial septal defect, H... OMIM:115150
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Hepatomegaly, Optic neuropathy, Splenomegaly, Ragged-... OMIM:252010
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Tendon xanthomato... ORPHA:391665
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Abnormal heart morphology, Atrial septal defect, Restrict... ORPHA:369837
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Hepatomegaly, Splenomegaly, Flexion contracture, Subd... ORPHA:90324
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Anorexia, Splenomegaly, Optic atrophy, Hypog... ORPHA:1328
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Pancreatic islet-cell hyperplasi... OMIM:276700
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Hypomimic face ORPHA:309854
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Castleman Disease
Restrictive cardiomyopathy ORPHA:160
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Achalasia, Ineffective esophageal peristalsis, Dysphagia, Sinus bradycardia OMIM:619482
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Cryptorchidism ORPHA:33364
Idiopathic Camptocormia
Myositis, Myotonia, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proxim... ORPHA:1320
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia, Nemaline bodies, Elbow contracture OMIM:620275
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Depression, Emotional lability, Hypertrophic cardiomyop... OMIM:124000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, ... ORPHA:353277
Doors Syndrome
Double outlet right ventricle, Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism ORPHA:79500
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Zimmermann-Laband Syndrome 1
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:135500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... OMIM:218040
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragma... ORPHA:116
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Self-mutilatio... OMIM:607872
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Cardiomyopath... ORPHA:3472
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Plague
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Endocarditis, Depression, Hypoten... ORPHA:707
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture... ORPHA:3206
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aganglionic megacolon, Aggressive behavio... OMIM:270400
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Aganglionic megacolon, Cryptorchidism, Abnormal c... ORPHA:84
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Facial hypotonia ORPHA:438216
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Compulsive behaviors, Atrial septal d... ORPHA:904
Noonan Syndrome 1
Ventricular septal defect, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Atrial septal defect,... OMIM:163950
Tetraamelia Syndrome 1
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:273395
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Abno... ORPHA:97685
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, Cardiomyopath... ORPHA:480880
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Cryptorchidism, Heart murmur, Cardiomyopathy, Irritabil... OMIM:216340
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Hypogonadotropic hypogonadism, Elevat... ORPHA:79318
Pallister-Killian Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidism,... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tnnc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tnnc1.

No publications found that use IMPC mice or data for Tnnc1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tnnc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnnc1em1(IMPC)J Exon Deletion Mice
Tnnc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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